Meeting the EU Regulation: Plain Language Summaries & Protocol Synopses

On January 21, 2022, the European Medicines Agency (EMA) launched a new clinical trials website, Clinical Trials Information System (CTIS). The new website was launched with the application of the new clinical trials regulation, Regulation (EU) No 536/2014.

The regulation requests a plain language version of the protocol synopsis to be submitted as part of the initial application for a clinical trial.

Hear from CISCRP colleagues and industry experts who discuss creating a plain language protocol synopsis that can be used for non-expert audiences, preparing plain language summaries of trial results to meet the new regulation, and best practices for developing and implementing a plain language summary program.

Panelists:

Julie Faries-Mitchell, MS

Associate Director

Health Communication Services

CISCRP

Christopher Pfitzer

Associate Director

Transparency Operations Lead

UCB Biosciences, Inc.

Kim Edwards, PhD

Associate Director

Medical Writing

CISCRP

To access more educational content about clinical trials and clinical research participation click here. 

Medical Hero Spotlight: Jenn McNary, Three Sons, Three Rare Diseases & Clinical Trials

Written by Melissa Daley & Lindsey Elliott, CISCRP | lelliott@ciscrp.org

Jenn’s plate is full. With four biological children, two foster children, a full-time job as Executive Director, head of patient advocacy at Fulcrum Therapeutics, running her own consultancy for patient advocacy, and serving as founder of One Rare, a nonprofit that sponsors a virtual summit for young adults with rare conditions, she is always going somewhere and doing something for someone. This would be a lot to imagine for others with quieter lives, but Jenn’s story goes even deeper. Three of her biological children have rare diseases with serious physical impacts. Her sons Austin and Max have Duchenne Muscular Dystrophy, and James has Primary Immune Deficiency and Congenital Cholesteatoma. Participating in clinical research has been a major part of their lives. 

“I decided that Austin and Max were going to be in any clinical trial that they were eligible for the first time I sat down at a Parent Project Muscular Dystrophy (PPMD) conference, in the audience, and watched scientists talk about MDX mice and how they were curing Duchenne in these mice,” Jenn recounts. “That was when the boys were five and two. It was never a question in my mind because I was told my sons would not live into adulthood. There were no care options.” 

Duchenne Muscular Dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of dystrophin, a protein that keeps muscle cells intact. (1) 

Austin, now 23, was the first member of the family to participate in a clinical trial, at the age of twelve. He was invited to be in a Phase I trial, which tests an experimental treatment on a small group of people to assess its safety and side effects and find the correct drug dosage. (2) “It was a hard decision to make, to be a safety subject in a study,” says Jenn.  “It was hard as a mom, and it was hard as a twelve–year–old to understand that you’re participating to determine if this therapeutic is going to be safe when it’s administered once. It was not expected to benefit him, even if he was in the treatment arm of the study, because it was one dose. And there were a lot of blood draws.” 

The family lived in Vermont, and the study site was in Columbus, Ohio.  “It was really cumbersome, flying with a non-ambulatory patient,” says Jenn. “I was very pregnant with my daughter, at the time. It was not a good experience. But we made the decision to be in that study because there really were no other options. I have always believed in research. I’ve always had that kind of feeling of if not us, then who? We have to move science forward.” 

Right after Austin’s participation, Max, now 20, was invited to participate in another clinical study for Duchenne Muscular Dystrophy. “He was nine and a half years old,” says Jenn. “Max’s study was only for ambulatory patients. That was really hard because I knew from the very beginning that Austin would not qualify for the study, but Max would. Austin was fine with that, saying that if it works for Max, then I’ll get it. This was a really invasive study.” For over a year, Jenn and Max travelled to the study site in Ohio. During that time, Max had four muscle biopsies. 

“The decision to take part in that study was because I was willing to try anything. We didn’t have all the different choices that we have now, a decade later, for clinical trials for Duchenne,” says Jenn. “Unfortunately, nothing came fast enough.” 

Austin and Max continue to participate in clinical research, and Jenn’s role in the decision-making process has changed as her sons have entered adulthood. “Things have shifted a bit. I now give advice instead of making decisions. I like to be the decision maker, but I can’t tell them what to do. I give them all the information they need to make their own decisions and I let them know my opinion,” says Jenn. Recently, Austin and Max decided to screen for the same clinical study when Jenn shared information about the opportunity with them. Max decided to participate, based on Jenn’s input. Austin resourced additional information from biotech researchers he knows through his professional network. 

 

Jenn’s 14-year-old son, James, has two rare disease conditions: one, Primary Immune Deficiency, a rare genetic disorder that impairs the immune system but can be controlled on blood plasma products, (3) and two, Congenital Cholesteatoma (4) a tumor disease confined to the ear canal. While the tumors can be controlled and removed surgically, they can grow in many directions. Jenn shared, “the doctors watch for the tumors and remove them.” 

 

“James had probably the most potentially deadly complications of any of my kids, because he had a tumor as a result of congenital cholesteatoma that grew into his brain at one point and caused a massive infection,” explains Jenn. Having primary immune deficiency also contributed to James having serious infections after surgical intervention. 

 

“James had four tumor removals in the space of two years. They are complicated surgeries that can take up to six hours because they are working around little structures in the ear. It was such a painful situation,” says Jenn. One way to treat the illness is a radical mastoidectomy, which removes the structures in the inner ear to reduce the chance of tumor growth. It leaves the patient without hearing in the ear. Jenn and James discussed the pros and cons of the treatment together. 

“I left the decision up to him to make and decide what he preferred, because he is the one going through all these surgeries and massive infections,” says Jenn.  James opted to have the procedure. He has not experienced tumor growth since having the surgery. 

James is currently not eligible to participate in clinical trials for immune deficiency, as most are focused on either severe forms of the disease, or require participants to be 18 years and older. (The disease primarily occurs in adults). At the time this interview was conducted, there were no congenital cholesteatoma clinical trials in the United States. 

Jenn finds support in online communities with like-minded parents, caregivers, and other rare disease patients. Meeting in person has been curtailed for the past two years due to the COVID-19 pandemic. Jenn says “You just find your people. I don’t have many friends outside of the rare disease community.” 

 

Jenn has also forged a strong network of informed connections that she can call upon when discussing options about clinical research participation for and with her sons. 

“Professionally, I work in rare disease,” says Jenn. “I have the unique capability of being able to call a research scientist or somebody else in the field and ask them to look at data and make decisions with me or explain something to me. I’m a huge believer in resourcing, so I don’t feel like I have to know everything. The people in my world believe in research. I don’t surround myself with anybody who would think that it is not a good idea. When the condition that your child is living with is deadly, you’re very willing to try something because you know what the alternative is.” 

Jenn advises patients, parents and care partners embarking on their clinical research journey to ask as many questions as necessary to make the right decision about participating in a clinical trial. 

 

“When Max and Austin were in their first clinical trials, I didn’t understand any of it. There are things I wish I had known or that I wish I had asked about,” says Jenn. Important questions include finding out what happens after the clinical trial ends. “What is the plan after this phase?” says Jenn. “Once enrolled in the study and exposed to this therapy, do I get to continue on it, if it works and there is good data? If the drug or treatment works, you want to know that there is a plan for your child.” 

 

Jenn recommends asking the study team about options that can reduce the burden of clinical trial participation for patients and caregivers, such as conducting tests and taking blood draws locally, or even at home. The COVID-19 pandemic has scaled the prevalence of decentralized clinical trials (DCTs), telehealth and home health visits. These options have also reduced the amount of travel for patients and caregivers. If travel is involved, Jenn recommends asking questions about travel costs, paying for childcare and/or travel expenses for siblings, lodging and meal related expenses. 

 

“As a caregiver, my biggest piece of advice is ‘Don’t make yourself irreplaceable’, because it’s not a sprint, it’s a marathon,” says Jenn. “Family members can be strong care partners. Make sure that you like and trust your team at the research facility. Reach out. Ask questions. You don’t have to sign an informed consent form that you don’t understand. You don’t have to agree to anything you don’t understand. Take the opportunity to make clinical research staff explain everything and what you’re agreeing to do,” says Jenn. 

To learn more about rare diseases & clinical trials, tune in to CISCRP’s 3-part webinar series:

Part 1  |  Part 2  |  Part 3


To search for medical conditions in a specific location, visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

Sources:

(1)   https://www.mda.org/disease/duchenne-muscular-dystrophy 

(2)  https://www.nia.nih.gov/health/what-are-clinical-trials-and-studies#four

(3)  https://www.niaid.nih.gov/diseases-conditions/primary-immune-deficiency-diseases-pidds#:~:text=Primary%20immune%20deficiency%20diseases%20(PIDDs)%20are%20rare%2C%20genetic%20disorders,Some%20PIDDs%20can%20be%20fatal 

4) https://rarediseases.info.nih.gov/diseases/10422/cholesteatoma/cases/25312#:~:text=Cholesteatoma%20is%20an%20abnormal%20growth,painless%20discharge%20from%20the%20ear

The Latest Dose: Raising Awareness for Unknown Illnesses

Play Podcast Here:

There are more than seven thousand rare diseases in the world – 95% of which have no known treatment. The term rare diseases is a cruel misnomer – in fact they aren’t that rare, and importantly, the definition of what constitutes a rare disease differs by country. To raise awareness, Rare Disease Day is recognized on the last day of February annually. In this episode, industry leaders Joan Chambers, senior director of marketing and outreach at CISCRP, and Scott Schliebner, executive VP and chief strategy officer at M&B Sciences, discuss the importance of improving access to treatment and medical representation for individuals with rare diseases and their families.

Visit The Latest Dose Website
Read Oracle Health Sciences Blog

Medical Hero Spotlight: Dr. Tracy Dixon-Salazar and LGS (Lennox Gastaut Syndrome)

Dr. Tracy Dixon-Salazar Lennox Gastaut Syndrome

Written by Melissa E. Daley, CISCRP

“The best way to describe Savannah is that she lives in the now. She doesn’t really fret about the future, and she doesn’t dwell on the past. But she does have memories that come up from time to time. You can pull out pictures and she can remember those times and what was happening,” says Dr. Tracy Dixon Salazar, of her daughter, Savannah. “She recalls having to wear a helmet in school all the time and having a seizure response dog. I don’t think she globally understands the journey she’s been on.” Now in her late twenties, at age five Savannah was diagnosed with Lennox-Gastaut syndrome (LGS), a development brain disorder that frequently evolves from early-life-onset epilepsy and usually emerges between ages of three to five years old. (1) Tracy’s role in Savannah’s life is a triumvirate of mother, patient advocate and scientific researcher.

“Savannah started having seizures out of the blue and nobody could tell us why,” says Tracy. When Tracy and her husband, Ruben, sought treatment for Savannah, they were told that knowing the origin of the seizures was not necessary to stop them. However, none of the prescribed medications worked. They were advised that Savannah’s seizures would not damage her brain. “I would see the seizures taking a huge toll on her cognitive ability and her ability to learn. We were told that you can’t die from seizures, and yet we had to resuscitate Savannah a number of times,” says Tracy.

Tracy decided to address the disconnect between how medical professionals were assessing her daughter’s illness and Savannah’s lived experience by enrolling in college, ultimately attaining her PhD in Neurobiology and Neurosciences. It took twelve years, with Tracy and Ruben tag-teaming work, school, child care and health care responsibilities. Despite the grueling demands, Tracy was determined. “I wanted to understand what could cause early life seizures,” says Tracy. “What was this LGS and where did it come from?”

LGS patients can have hundreds of seizures a day that dramatically impact their physical and cognitive development. “You never knew what you were going to get,” says Tracy. “It could be a five-seizure day, or it could be a 500-seizure day.”

Tracy describes a 500-seizure day as “…absolute chaos. You’re not going anywhere. They’re not going anywhere. You’re probably not going to make it to work. She’s not going to make it to school. You’re on watch to make sure that these seizures stop on their own. You have to be counting them,” says Tracy. A cluster of seizures together over a prolonged period of time can cause brain damage. A single cluster that does not end on its own (called status epilepticus) can also become a fatal emergency.

Savannah, Tracy and friend.

“At its worst, Savannah was going into cluster seizures or status epilepticus, two to four times a week.” Tracy or Ruben had to prevent Savannah from injuring herself during a seizure, administer rescue medications, and attend to Savannah’s post-episode physical needs, which may include caring for uncontrollable bouts of urination, defecation and vomiting.

Seizures are brutal. Over the years, Savannah has endured a fractured skull, broken teeth, broken arms, injury to her eye and a severed nose bridge. With her parents searching for a way to provide relief and healing, Savannah tried 26 different treatments between the ages of two and eighteen, including medications, diets, devices and alternative therapies. Some of these were through participation in clinical trials. None of them worked.

As a post-doctoral candidate, Tracy worked in a lab, sequencing exomes, the coding part of the genome that contains information for protein synthesis (2), in children with pediatric brain disease and epilepsy. “For me, science was going to be the thing that answered these questions,” says Tracy.

Savannah was a participant in clinical research conducted by Tracy and her colleagues on the research team. In addition to sequencing Savannah’s genes, they also sequenced Tracy’s and her husband’s, as part of Tracy’s research for a precision or genomic therapy to treat LGS.

“When we sequenced Savannah’s exome, we found a group of calcium channel genes, that were telling us that she had too much calcium going into her brain cells, so we started to look at existing medications that targeted calcium channels,” says Tracy. They found medications targeting calcium that were used for high blood pressure and arrythmias, not epilepsy. After a risk/benefit analysis of the data and in coordination with Savannah’s physician, Savannah began treatment with a calcium blocking drug. Her seizure numbers dropped by 95% and her episodes of non-stop seizures completely stopped. (3)

“Unfortunately, we didn’t find it until she was 18 years old, so a lot of brain damage had already happened. But she really turned a corner after that,” says Tracy. Savannah was able to safely discontinue a number of medications she had been taking. “She started talking. She could walk. Savannah is funny and sassy. I feel like I got to meet her again when she was 18 years old.”

While the outcome of the research was positive, Tracy faced internal challenges about her role as a parent and a researcher during the process. “It was difficult for me as a mother and a scientist, because all of my training had said ‘you can’t objectively study your own disease or a disease that your loved one has’. Yet if you go into scientific literature, there are TONS of people who have studied their own disease or a disease of a loved one,” says Tracy. “It’s made them a better scientist, in many ways. But there’s so much more at stake if I get it wrong, with my own child. I was so conflicted during this time.”

Participation in clinical research has been a big part of their lives, even before Savannah’s participation in the study conducted by her mother and the team. “It was always important for us to be part of research studies, to be a part of clinical trials, to be thinking about not only how we are going to help ourselves, but how we are going to help the next generation as well,” says Tracy. “LGS is a rare disease, but we have a community of six thousand (active in the LGS Foundation). There is a predicted forty-eight thousand thousand people with LGS in the United States and a predicted million people worldwide.”

Tracy shares there are several things to consider before participating in clinical research. “Being in a clinical trial is not without risk – but so is not being in a clinical trial. If you have exhausted every anti-seizure medication and there is an open clinical trial, and you choose not to be in that, there will be consequences for that as well. As a parent, you just make the best possible decision that you can make. There is risk on both sides. Become as informed as you possibly can to make that decision.”

Tracy is committed to providing information and resources to the LGS community by serving as Executive Director of the LGS Foundation, founded in 2008 by Christina Sanlnocencio, whose brother Michael was an adult living with LGS. Tracy says “Advocacy organizations like the LGS Foundation, or wherever your community is, are there for you so you don’t have to walk this alone. Talk with them. They have a lot of great information to share on how to navigate and understand clinical trials.  How to think about the pros and cons of participating in clinical research. Find somebody who has walked there before you and hear their story. It can help you make decisions about whether or not you or your loved one should go into a clinical trial, or how you are going to support your loved one who is in a clinical trial.”

To search for medical conditions in a specific location, visit our Search Clinical Trials page.

To stay informed about clinical trials, visit our Resources page.

Sources:

(1)  https://www.lgsfoundation.org/about-lgs-2/what-is-lennox-gastaut-syndrome/

(2)  https://www.broadinstitute.org/blog/what-exome-sequencing

(3)  https://www.lgsfoundation.org/fighting-for-a-cure-for-lgs/

Medical Hero Story: Angie Volk, Multiple Sclerosis Advocate

Multiple Sclerosis MS

Written by: Lindsey Elliott | lelliott@ciscrp.org

 

“Angie, are you sure there isn’t more going on? Are you having any other symptoms?”

Angie Volk, a Multiple Sclerosis patient and advocate, recalls being taken aback by this question posed by her Urologist at an appointment in 2014. In her early 40s, Angie was in an executive role in the healthcare industry that required weekly travel for work via plane. Over the years, Angie had begun struggling with urinary issues, which eventually worsened making travel difficult. She made the decision to consult a Urologist for evaluation and treatment. After a year of treatment, Angie’s doctor suggested there may be an underlying health condition causing her problems, and recommended she see a Neurologist.

“This conversation with my doctor was the catalyst for my diagnosis and the start of my journey as an MS advocate. I am so thankful to my doctor for her advice. Without it, I wouldn’t be where I am now,” Angie says.

MS is diagnosed most commonly between the ages of 20 and 50, but it can go unrecognized for years. Many people living with MS experience “invisible”, or not outwardly visible symptoms which can create a unique set of issues they have to face.

“Some people assume that you don’t really have a disease because you may not appear visibly sick. This can undermine a person’s confidence and discourage them from seeking treatment. You may develop feelings of anger, frustration, and fear as well. People living with MS need to be prepared to educate the important people in their lives about their disease and the symptoms they experience,” Angie explains.

“Looking back now and understanding my disease, I realize I had been experiencing symptoms of MS back in my twenties and thirties without realizing,” she notes.

During that time, Angie was in nursing school, working long hours. She suffered from daily headaches and neck pain and began visiting a chiropractor regularly. During that time, she experienced sporadic and unusual health issues for which she was also screened for Lupus, but no conclusive results were identified.

After being referred to a Neurologist, Angie underwent an MRI and numerous tests for different autoimmune and clotting disorders. She was diagnosed with chronic migraines and started medication, receiving additional referral to an interventional pain management physician for her neck pain.  In 2016, Angie requested and received a second MRI to compare to her baseline exam. Although her first MRI had found brain abnormalities (white matter lesions), the doctors had initially believed these were related to her migraines and did not schedule any additional MRI’S at that time.

“I knew something wasn’t right, so I kept pushing for answers,” Angie recalls. It was then that Angie was finally referred to the MS neurology clinic “Once I was able to get into the MS clinic, I was finally diagnosed.”

Multiple Sclerosis is a disease where a person’s immune system attacks the brain and spinal cord. This damages myelin, the protective layer insulating our nerves, ultimately disrupting signals to and from the brain.

Individuals with MS will experience disease progression often involving the development of lesions in the brain or spinal cord. The placement of these lesions impact how a patient’s symptoms will manifest and progress. No two individuals with MS will have the same symptoms, impairments, or outcomes. However, common problems include impaired vision, cognition changes, weakness, difficulty with balance, fatigue, dizziness, and urinary issues.

“With a disease like MS, there is no single treatment plan. Treatments vary for each patient,” Angie explains. In her case, Angie works with several specialists to manage her symptoms. “The part I find frustrating as a chronic patient, is that I don’t have a straightforward or streamlined treatment plan. I see so many doctors. As my disease has progressed, constant appointments have begun to interfere with my life.  It can feel like a full-time job, managing my health and going to medical appointments.”

Most MS patients manage their symptoms by taking medication, whether by oral, injectable, or by intravenous infusion. “A common treatment MS patients receive is called Monoclonal antibody therapy, which involves an intravenous infusion administered under close medical supervision. These infusions can be monthly or more sporadic. In my case, I receive a monoclonal antibody infusion twice a year,” Angie says.

She explains that these treatments are very effective in suppressing the part of the immune system that causes inflammation, so the disease doesn’t progress. “Unfortunately, your immune system is being suppressed, which increases your risk for infection – upper respiratory being the most common.”

In 2020, the pandemic made daily life dangerous for Angie and other members of the MS community.

Angie explains, “My treatment suppresses B cells, which play a role in the production of antibodies. This type of therapy reduces the effectiveness of vaccines, given that your body cannot adequately produce the antibodies needed to provide immunity. After my first two COVID-19 vaccines, my blood was tested and the sample detected no antibodies, meaning I was left unprotected and extremely vulnerable to the virus.”

The pandemic also impacted Angie’s access to care. With the many complications put in place by COVID-19, Angie made the decision to opt out of some regular therapies to limit her exposure. She did not attend her physical therapy appointments and avoided public spaces since there was no guarantee that everyone around her was vaccinated. 

Despite these challenges, Angie’s medical knowledge and strong self-advocacy motivated her to continue her medical journey, now as a clinical trial participant. Angie has participated in several MS clinical trials over the past couple of years. When reflecting on her decision to initially join a clinical trial, Angie shares, “I knew that self-advocacy was important to my regular medical care, but also realized it was equally relevant to clinical research. I was familiar with how clinical trials were conducted because of my previous work as a nurse in the clinical setting, but I had never personally participated in a trial.”

In her free-time, Angie became further educated about MS and the current research being done in the US and abroad. Having new information allowed her to stay informed about the latest medical advances with MS and clinical trial opportunities. While researching, Angie discovered that one of her physicians who worked in MS clinical research was conducting a booster vaccine study for MS patients on certain immunotherapies with the goal of evaluating a patient’s immune response by analyzing their blood levels. Angie was excited to join the clinical trial for the booster vaccine.

 

Since T cells are not regularly monitored, Angie was curious to see whether she had adequate protection from COVID-19 despite not producing antibodies from the vaccine. “I wanted to know just how safe am I during this pandemic? Is my immune system strong enough to protect me if I were to get exposed to COVID?” Angie recalls.

Angie has also joined other MS clinical trials. Her nurse practitioner referred her to a study focusing on physical therapy treatment for individuals with MS, allowing her to receive free physical therapy.

“When I began my medical journey and considered joining a clinical trial, I had my own medical background to rely on, but also a strong network of friends and colleagues in the medical field as well. I knew I could go to them to share my concerns and thoughts and they would support me.”

Angie emphasizes that when it comes to getting involved in clinical research, finding a practitioner who partners with you in decision-making is critical. “We all deserve to have a say in our medical treatment. I suspect that many people who may be considering joining a clinical trial might be apprehensive to do so because they don’t know what questions to ask, are nervous to speak up to their healthcare provider, or worry that they may ask too many questions and be perceived as annoying. However, being informed is so important. As a trial participant, you always have a choice and should feel comfortable advocating for yourself.”

Angie shares that her own medical journey has helped identify unmet patient needs across the board. “Many people don’t even know what questions to ask their doctors, and without a medical background this type of diagnosis can be incredibly overwhelming. It’s so important for practitioners to share information about how clinical trials work, their importance, and to discuss any current trial opportunities available to their patients,” she says.

“Ultimately, joining a study is a win-win situation. Clinical trials and those who participate help advance medicine. There are so many different opportunities available to those who are looking for them.”

For those considering participating in a clinical trial, Angie says, “Have an open mind, and do your own research. If you have questions, reach out to someone that you trust.” If possible, Angie recommends getting connected with someone who has participated in a trial who can answer your questions with firsthand experience and help alleviate any apprehensions.

 

For more information and resources about Multiple Sclerosis, visit the National Multiple Sclerosis Society website.

To stay informed about clinical trials, visit our Resources page.

To search for medical conditions in a specific location, visit our Search Clinical Trials page.

 

 

Pediatric Education Series

This 4-part, live-action video series explains clinical research to children and teenagers.

Video Playlist
1/4 videos
1
Overview of Clinical Trials
Overview of Clinical Trials
2
Who’s Involved?
Who’s Involved?
3
How It Works and What it Means to Consent
How It Works and What it Means to Consent
4
Treatments in Clinical Trials
Treatments in Clinical Trials

Part 1: Overview of clinical trials

Part 2: Who is involved (research professionals, doctors, nurses, etc.)

Part 3: What it means to consent to be in a trial

Part 4: What treatments are given in clinical trials

This video is also available with Spanish subtitles here and is available in French.

These videos were developed with feedback from patients, parents, and community advocates involved in pediatric research. They all helped to make sure the topics, language, images, and design of these videos are appropriate, educational, and engaging for pediatric audiences.    

These videos were also reviewed by an Institutional Review Board (IRB), which is also known as an independent ethics committee. The IRB review ensures the videos follow ethical guidelines for providing information about clinical research to patients and the public.  

Silver Awarded in the Category of Digital Health Media / Publications

This video series was done in collaboration with Otsuka

Eye Know—Do You? Podcast with Ken Getz

Bryan and Bradford Manning chat with Ken Getz, a Tufts University School of Medicine professor and founder of CISCRP, a non-profit organization that helps the general public understand the clinical research process, including those living with an IRD. He discusses the benefits and risks of clinical trials, and the value of participation in research.

Access Podcast

About Eye Know—Do You? Podcast

Join the Two Blind Brothers, Bradford and Bryan Manning, on a journey to learn more about genetic testing. Diagnosed with Stargardt disease as boys, Bradford and Bryan are known for their advocacy and charitable work in the inherited retinal disease (IRD) community. Eye Know – Do You? is sponsored by Spark® Therapeutics.

To learn more about inherited retinal diseases and the importance of genetic testing visit www.EyeWant2Know.com. 

Some speakers have been compensated for their time.

Healthcare Provider Best Practices To Improve Experiences for LGBTQ+ Patients

This infographic identifies ways to raise awareness among and better engage the LGBTQ+ community in clinical research and healthcare.

Download infographic here.
VIEW MORE INFOGRAPHICS

Additional Resources:

Read Broadening the Lens of Diversity for More Inclusion in Clinical Research | Written by Malia Lewin, Teckro

Read Improving LGBTQ+ Inclusivity in Ovarian Cancer Care | Written by Clara MacKay, World Ovarian Cancer Coalition

Read Considerations for LGBTQ+ Inclusion in Clinical Research | Industry Report written by Teckro

Medical Hero Story: Melanie and Aaron Havert, Rare Disease Advocates

Written by: Kristen Castillo

 

One Family’s Journey Through Chronic Illness and Clinical Trials

 

The Havert family is taking on a major health diagnosis and taking care of each other along the way.

Aaron Havert, 40, and daughter Eleanii, 9, both have Hemophilia A, a genetic bleeding disorder caused by a lack of blood clotting factor VIII. The main symptoms of Hemophilia A include prolonged bleeding and bruising. Aaron’s case is considered severe while Eleanii’s case is considered mild. There’s no cure for Hemophilia A, but gene therapy may help reduce the severity of the disorder.

Aaron, who was diagnosed when he was 10 months old, needs to prevent a spontaneous bleed from occurring. He treats his Hemophilia A with factor infusions administered directly into a vein at home every two to three days. Eleanii receives factor treatment on demand, meaning she’s treated when she has a bleed.

Caregiving and advocacy
Melanie Havert, Eleanii’s mother, is a caregiver to both her daughter and to Aaron. The family lives in Northern California with their older daughter Charlii, age 11, and three pets.

Melanie, 36, started her caregiver journey in 2004 when she first met Aaron. He taught her at his kitchen table how to infuse him with life-saving intravenous injections.

“According to both Aaron and Eleanii, I am the best at giving infusions,” she says. “Without the factor being administered into their veins, Aaron would die, and Eleanii would have a very painful life and could even lose her life in the case of something like a minor head injury.”

Melanie’s caregiver role also includes giving Eleanii subcutaneous injections into her thighs; ordering medication and supplies; and attending appointments, conferences, and support groups. She’s often a resource for other new caregivers.

When she realized how little information was available about female Hemophiliacs like her daughter, she committed to connecting with female symptomatic carriers of the disorder.

Melanie is also a project manager at Rare Patient Voice, a market research recruitment firm providing patients and caregivers with opportunities to share their opinions and experiences with researchers.

 

“I love helping others learn how to advocate for themselves and their families,” she says. “We need to learn how to stand up for ourselves and voice our needs and desires when it comes to our health, our struggles, our wins, and our needs.”

 

Clinical trials
Aaron has participated in five clinical trials over the past 30 years, including four for different anti-hemophilic factors (AHF) and one for a first in-human gene therapy trial.

He participates to help improve treatment for Hemophilia. The condition can be difficult, causing physical limitations, chronic pain, and very expensive medical costs. His monthly medication costs $20,000.

 

“There has been such a dramatic change in the medical treatment of my condition over the past 35 years, that the quality of life — and the longevity of life — for Hemophiliacs has so greatly improved,” he says. “It is a testament to how important clinical trials and medical research are.”

 

A better future
When considering participating in clinical trials, Melanie advises patients and their families to understand the risks, ask questions, and speak with others who’ve participated to gain a better understanding of the process.
She also advises preparing the family for all possible outcomes and discussing it as a unit. A clinical trial has the potential to affect the entire family. When Aaron wants to participate in a clinical trial, he and Melanie have a long discussion of the possible risks. If he decides to participate, he writes a personal letter to each of their daughters explaining exactly why he decided to participate and what he hopes will come out of it.

 

“Participating in a clinical trial is a big deal,” says Aaron. “It is an act of love and hope for a better future. Without those willing to participate in clinical trials, medicine and the medical field would not be where they are today.”

Medical Hero Story: Richie Kahn & Wolfram-like Syndrome

Authored by: Melissa Daley | mdaley@ciscrp.org

Richie Kahn shares, “I am a public health professional by training, and a clinical researcher by trade. I was working in full-service ophthalmology, developing new products for the eye, when I found out I was losing my vision.” It was March of 2019. Initially, it appeared that Richie had an early onset, clear-cut case of glaucoma, but a very different diagnosis lay ahead.

The diagnosis of glaucoma was initially confirmed through exams with an optometrist and an ophthalmologist who specializes in the disease. The ophthalmologist said that the good news was that they knew what Richie had, and the better news was that there were excellent treatment options available.

Richie shares insights on how technology can remove barriers to participating in clinical research.

 

Richie’s keen sense of humor shines through with his response to the ophthalmologist. “Well, I said bad news and worse news. Bad news, my background is in patient advocacy, and worse news is that I work in ophthalmology and know just enough to be dangerous, so I am going to be a giant pain in your butt,” smiles Richie. “Based on the fact that my doctor laughed, I knew we were going to get along well.”

Richie explains that “Glaucoma is a disease of the eye characterized by a build-up of fluid which causes increased pressure on the optic nerves connecting the eye to the brain. I decided this was an opportunity to turn lemons into lemonade, to build awareness of clinical research as a care option, and to get people screened for symptom-free vision loss.”

He used his skills and experience in business development in clinical research to conduct outreach to non-profits, particularly the Glaucoma Research Foundation, to ask how he could help. “If I have the opportunity to combine my knowledge of research and my passion for patient advocacy, put me in coach, I’m ready,” Richie says.

At an industry conference in the autumn of 2019, Richie met a key opinion leader (KOL) in the glaucoma field, who invited Richie to meet with him to review his case. This was the third medical opinion Richie had sought. Richie’s care team had performed the necessary screenings and followed treatment guidelines for glaucoma.

In that appointment, Richie received disturbing news.

“With relatively few signs and symptoms, I had lost about 15% of my vision,” says Richie. “That was the first indicator that what I had was not, maybe, so clear-cut.”

Richie’s optic nerve was pale, and the doctor was concerned. Tests were conducted to determine whether Richie had suffered a series of small strokes or had a tumor. Just after Thanksgiving in 2019, the test results came back negative. The KOL recommended that Richie confer with a neuro-ophthalmologist that was in the same building. After a lengthy appointment that didn’t provide any further insight, the neuro-ophthalmologist recommended genetic testing.

In late February of 2020, just before the global pandemic began shutting down the US, Richie received more unsettling news, via a phone call with the neuro-ophthalmologist.

“I could hear from the tone in this doctor’s voice, he was not familiar with the diagnosis he was sharing,” says Richie. The doctor told Richie that the genetic tests indicated that he had Wolfram Syndrome, and that he should meet with a genetic counselor. Richie asked for his test results and he started researching the disease on his own.

NORD (National Organization for Rare Disorders) describes Wolfram Syndrome, in part, as “…an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. The symptoms and rate of progression of Wolfram Syndrome can be quite variable. Neurological symptoms such as poor smell, poor balance, an awkward, unbalanced way of walking (ataxia) and central sleep apnea can occur.” It also impacts the brain stem and affiliated critical bodily functions, including breathing. (Source: https://rarediseases.org/rare-diseases/wolfram-syndrome/)

“I used to go to a Korean Buddhist temple, for 15 years. So I am very much ‘It is what it is.’ You know, having good vision is temporary. Being alive is temporary. I was very matter of fact about it,” says Richie.

Richie decided to contact the KOL on Wolfram Syndrome, Dr. Fumihiko Urano, MD, PhD, of the Washington University School of Medicine in St. Louis, Missouri,  and received a response. A meeting was scheduled with Richie, his wife, Dr. Urano and the clinical research nurse. Dr. Urano determined that Richie did not have Wolfram Syndrome but had Wolfram-like Syndrome.

“And I said, what is that?” says Richie.

Wolfram-like Syndrome is a rare disease, a disorder of the endoplasmic stress reticulum. It typically manifests between the ages of 6 and 8 years old, with optic atrophy that is often slow progressing. Later, many individuals develop insulin dependent diabetes. Sensory and other hearing loss may also occur.

“My particular flavor of the disorder, I was told by Dr. Urano, was only discovered by science in 2019,” says Richie. “I am patient number 17.”

The other 16 individuals presented symptom onset more typical of Wolfram-like Syndrome.

“Here I am, a unique and special snowflake, just like everybody else with a rare disease, right?” smiles Richie. “We have no way of knowing what the progression will be like. Eight or nine months after chatting with Fumi (Dr. Urano) for the first time, I had lost 15% of my vision. Today,  I have lost almost 50%. So we’re preparing for legal blindness, I mean, I could be there right now. It depends on the test you take. But again, I am using this as an opportunity to focus on incorporating the patient perspective into clinical trial designs, creating studies that are less burdensome and building awareness of the whole thing.”

Wolfram-like Syndrome is an orphan disease, without any treatment and currently no clinical trials being conducted.  Richie has connected with Amylyx Pharmaceuticals, in Cambridge, Massachusetts, a company that has been granted Orphan Drug Designation for AMX0035 for the treatment of Wolfram Syndrome.

 “I’ve connected with the key opinion leader and looking to connect with patients — anything I can do to help make their lives easier and bring promising new therapies to them. It’s a net win,” says Richie.

Richie further explains that research indicates that up to 3% of individuals of western European Jewish heritage (Ashkenazi) may be carriers for this genetic condition.

“It makes me scratch my head,” says Richie, “because some might manifest with diabetes and no vision loss. Some might think they have glaucoma but they’re not diabetic. So I wonder how many patients might conceivably have this condition and just are not aware.”

It’s clear that Richie’s view about participation in clinical research is towards assisting others who come after him and sharing awareness about the importance and magnitude of clinical research.

“For vision loss, while there’s really fantastic work being done, through the Catalyst for a Cure program at Glaucoma Research Foundation, and there’s a lot of really promising pre-clinical work right now, once you’ve lost your eyesight, in almost every scenario, it is what it is. It’s not reversible. So I’m not necessarily looking at this (upcoming) trial to restore vision loss, or anything like that, for me. If I can contribute and help the next patient, fantastic. If I can at least build awareness about clinical research as a care option, and research even being an option in the community, that’s great. But I am not counting on my disease progression slowing or vision restoration. It’s more about building awareness of research, for both patients and clinicians, contributing to science and work in vision restoration.”

Richie’s patient advocacy efforts include public speaking engagements and work with the Glaucoma Research Foundation. “I am very clear now, about my diagnosis, in presenting myself as an optic atrophy patient and not a glaucoma patient,” says Richie. He is involved in the foundation’s patient summit steering committee and often moderates webinars and panels with the team.

Richie has high praise for the Glaucoma Research Foundation, saying “They’ve been absolutely lovely. They’ve connected me with other patients who are interested in becoming advocates, interested in writing blogs and sharing their perspective with researchers, which is fantastic. I am not only working with tremendous advocates, I have the opportunity to connect with patients and hear their stories, help them become better advocates, learn from them and just be a sounding board for them. Sometimes they’re just looking to vent. Ultimately, if they’re interested, I try to get them to be engaged and empowered to be their own advocates.”

Richie has participated in other non-vision-related clinical trials in the past, including a traditional brick and mortar clinical trial for migraine headaches. He participated in a one-day trial for involving a virtual reality headset, powered by artificial intelligence, that runs  at-home visual field exams. He also tried, unsuccessfully, to participate in the recent COVID-19 vaccine studies, but did not receive calls back, most likely due to clinical site bandwidth.

When he shared with family and friends that he may participate in an upcoming clinical trial for Wolfram-like Syndrome, he did face some confusion from his loved ones. “A question I have heard is, ‘If you’re not going to restore your eyesight, then why would you participate?’ I try to use it as opportunity to educate, that everyone’s rationale and motivation to participate is different,” Richie explains.

Richie advises individuals considering clinical research that “If you’ve got questions about a clinical trial, reach out to the study site to get your questions answered. If you’re really curious, go through the pre-screening process. Go through screening. If you qualify, go through informed consent. Learn as much as you can, to make sure that, if you are going to participate, your expectations are clear. There’s nothing worse than either a patient or a doctor getting involved in clinical research and not having a clear understanding of what the study involves. And then share your experiences with your friends, family and community members.”

Richie also makes note of a very basic, but profound fact about clinical research. “This is a full-contact, team sport. Every time you go the pharmacy and look at the products being dispensed by the pharmacists remember they wouldn’t be there without clinical trial participants.” You can see this sentiment in action in CISCRP’s MT Pharmacy video.

In June of 2021, Richie participated as a panelist in the CISCRP webinar titled “Rare Disease Clinical Trials: How to Prepare for When the Clinical Trial Ends”, where he shared his experience as a rare disease patient, patient advocate and clinical research professional. You can access the recording here.

Richie is very hopeful about the evolving state of the clinical research enterprise. “If there is a silver lining in the pandemic as it relates to clinical research, I think we’re at this inflection point where the momentum is such that we are moving towards decentralized trials, hybrid trials, where patients can participate, not necessarily 100% on their own terms, but from where they are situated and when they are able to participate,” says Richie.

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