This infographic identifies ways to raise awareness among and better engage the LGBTQ+ community in clinical research and healthcare.
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
Written by: Kristen Castillo
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.
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.
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.
CISCRP hosted a 3-part webinar series titled “Navigating Rare Disease and Clinical Research: Every Patient Matters”. This article brief is based on the second episode, “Rare Disease Clinical Trials: How to Prepare for When the Clinical Trial Ends”. Moderated by Joan Chambers, Senior Director, Marketing and Outreach, CISCRP and Marsha Lanes, Genetic Counselor/Medical Editor, NORD (National Organization for Rare Disorders), panelists included Dr. Tracy Dixon-Salazar, Executive Director, Lennox-Gastaut Syndrome (LGS) Foundation, Richie Kahn, Senior Director, Patient Engagement, Medable, Inc., and Dana Holinka, Operating Board Member, Tuberous Sclerosis Complex (TSC) Alliance. You can access the webinar recording here.
You or a loved one is participating in a clinical trial, which at some point, will come to completion. There are several considerations to address before the end of the clinical trial, and conversations to have with the PI (Principal Investigator) and clinical site staff. These include how medical care will be transitioned, who will be the primary physician moving forward, post-study access to medical records and study staff, access to study medication, how you will be informed about the outcome of the clinical trial and potential options to enroll in an upcoming clinical trial. In rare disease clinical research, participants are often minors, so caregivers and patient advocates may have additional questions.
“Don’t think that any question is silly, stupid or dumb, because you’re going to go into this transition phase feeling like you have no control, after you’ve been taken care of and guided along,” says Dana Holinka, whose daughter is a rare disease clinical trial participant.
Dr. Tracy Dixon-Salazar’s daughter has participated in 26 rare disease clinical trials for medications, treatments, alternative therapies, and diet. Tracy advises to ask questions about access and care. If the participant received the study medication and not the placebo, and was benefitting from it, ask if they will still have access to it.
In a clinical trial, the participant is cared for by the physician investigator and research staff, in addition to the standard of care that is concurrently being provided by their primary care physician. Once the trial is completed, ask how care will be transitioned, and if there is an option available to remain in the care of the study staff.
“How are you going to work with our primary care provider to make sure there is no gap, if the medication is something we want to stay on?” says Tracy. Other considerations are whether the study medication will be covered by the participant’s medical insurance and the length of access to it.
“People who are conducting clinical trials are the best of the best,” says Tracy. “They’re going to know very much about the research, very much about the treatment you’re on, and they’re going to know a lot about the process. Our experience, in the multiple trials that we have done, was that we could stay, if our insurance (in the United States) was now going to cover the medication. We had to work that out.”
Richie says another key for a successful transition is to “Prepare yourself to advocate, either as a patient or a caregiver, for a friend or loved one participating, and do it early.” Conduct research on clinical trials and the informed consent process, to make sure that all your questions get answered at the onset of the study, and that you understand exactly what is involved.
“Sponsors aren’t necessarily bound to continue providing access (to a treatment) after a trial ends. But when you’re having that conversation during the informed consent process, within that informed consent form, itself, all of this should be outlined. It’s good to check. If you are not sure, you can always reach out to your site coordinator, your PI (Physician Investigator). Often times, there are open label follow ups, long term extensions, and a couple of other possibilities, as well, where sometimes an investigational product will be made available after the trial wraps up. That is especially common after early Phase and first-in-human trials,” says Richie.
Biopharmaceutical companies and drug sponsors may have programs to assist families with the extra cost of the medication, after the clinical trial ends. This is dependent upon whether the product is already approved and marketed. There are other tools available, including state-level medication assistance programs. For investigational products that are not yet approved, there are mechanisms where a pharmaceutical company may be able to intervene to continue providing the investigational product after the clinical study concludes. And there may be the possibility of participating in another clinical trial. If a participant has not yet received the investigational medicine during the clinical trial, there may be an open access arm available at the end of the trial.
“Sponsors really do try to make that happen, as much as possible,” says Tracy.
Dana emphasizes the importance of networking with other patients, patient advocates, caregivers and advocacy organizations.
“Parents, and having those connections in the community, have helped us immensely. Connecting with other families and other people who are experiencing what you’re experiencing is huge. You can get some of the best information,” says Dana. This can include medical articles about the latest developments, or resources to help navigate day to day details. For example, Dana learned about a financial assistance resource called needhelppayingbills.com from another rare disease parent.
Dana recommends connecting with a local representative from the pharmaceutical company that can help with questions or concerns if there is one in your area.
“I think it’s imperative that you make those kinds of connections,” says Dana. “You can make them at the beginning, when you’re in the trial, or with some of the questions towards the end. Find out who that person is locally. They’ve had the experience of interacting with other parents, caregivers and the people involved in the studies.” The representative may be able to offer resources, such as discount coupons for medications or assistance with grassroots fundraising efforts.
“Generally, this is a really collegial industry. I think for just about everyone, it’s all about making those connections for the good of the patient. If you can get to the right person, you’re going to have a warm reception,” says Richie.
How information is shared with clinical research participants at the conclusion of the study is outlined during the informed consent process. If there are multiple sites and institutions involved in the clinical trial, enrollment rates and timetables may impact when the results of the clinical study are shared. The information has to be collected and analyzed. You can find information on clinicaltrials.gov and from advocacy groups and non-profits in your respective indications and therapeutic areas.
“Many sponsors will share this information directly with patients, if you ask,” says Richie.
“I think no matter where you live, if you are a patient in the trial or a caregiver, we all tend to have the same exact questions,” says Tracy. “Thinking about transitioning is a really anxious time for patients and families. Having those conversations start early, about the questions we’re all going to have, is really important.”
To learn more, you can view the webinar here. Access the companion infographic here.
You can view part-one of the series, “Rare Disease Clinical Trials: Being Informed About Clinical Research” here and part-three, “Rare Disease Clinical Trials: After Participation, Paying It Forward” here.
Access the companion infographics:
Authored by: Melissa E. Daley, Communications & Marketing Manager, CISCRP
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.
The Clinical Trials Supplement features a variety of informative and timely articles about clinical research. This supplement covers clinical trial participants’ selfless gift to medicine, how African-American men can beat the adds against prostate cancer, exciting developments on an Alzheimer’s cure, and Otsuka’s holistic approach on clinical research.
The medical hero spotlight cover story features Mel and Aaron Havert, a patient and caregiver that are taking on a Hemophilia A diagnosis.
To participate in this campaign or an upcoming media campaign, please contact Matt Steele | msteele@ciscrp.org.
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.
“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.”
“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.”
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.
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.
Relevant resources:
If you are interested in licensing this infographic or other CISCRP content, please contact at info@ciscrp.org.
Authored by Melissa E. Daley, Communications & Marketing Manager, CISCRP
Clinical trials are standard common practice in cancer treatment for children, adolescents and young adults (AYA). The RACE (Research to Accelerate Cures and Equity) for Children Act requires that medications that are used to treat adult cancers also be assessed for use in pediatric populations, if certain criteria are met. SMEs from ICON, a global provider of consulting, and outsourced development and commercialization services to pharmaceutical, biotechnology, medical device and government and public health organizations, and Children’s Minnesota shared their experiences treating adolescent and young adult populations in light of the RACE for Children Act in a 15-minute Flash Webinar.
“Pediatric cancer is quite a different clinical area. When a child to young adult is newly diagnosed or has relapsed or refractory cancer, providers first look to clinical trials for recommended treatment,” says Missy Hansen, MSN, APRN, CPNP, CPHON, Pediatric Strategy Liaison, Center for Pediatric Clinical Development, ICON a former nurse practitioner now working in pediatric clinical development. “Even if there isn’t an open trial for the child to be enrolled on, providers will often recommend treatment according to a trial, if that trial is what we know to be the best treatment option for that child’s disease.”
It’s important to provide clear and complete information about clinical research participation to parents, caregivers, and pediatric/AYA patients.
“We have to educate families on what a clinical trial is. A lot of times, when a parent hears the word ‘trial’, they think it’s experimental. It’s really looking at what can give you the best quality of life and event-free survival,” says Lori Ranney, DNP, APRN, CPNP, CPHON, Children’s Minnesota, a nurse practitioner. “We look at the family as a whole, and if it’s appropriate, involve children and AYA populations in the discussion.”
Hospitals and other treatment facilities may also include their child-family-life interdisciplinary teams and social workers to provide additional support and resources.
Children’s Minnesota is a large pediatric oncology institution that also has a well-known referral center. About 90% of eligible patients are treated through participation in clinical trials. Children’s Minnesota works to partner with the four surrounding states – Wisconsin, North Dakota, South Dakota, and Iowa – with the goal of bringing care closer to home for patients.
“The RACE for Children Act is updated legislation that went into effect in the summer of 2020. It specifically targets pediatric cancer. The intent is to get more cancer drugs studied in children, thereby ultimately getting new and improved and aid-proof drugs to the children,” says Missy. The RACE for Children Act expands prior legislation and policies designed to increase the development of pediatric drugs, treatments and therapies and eliminates the orphan exemption for pediatric studies for cancer drugs directed at relevant molecular targets (1).
One way to provide medications and treatments to children, particularly in a rare disease space, where there is a limited number of patients, is to consider that some adolescents may be able to receive similar dosages that adults receive, particularly older adolescents, due to their underlying organ maturation. Taking a patient’s physical maturation into account allows for more adolescents to participate in clinical research, even if they are not yet 18 years old. Minor children (under the age of 18 years old) cannot legally provide informed consent to participate in clinical research. They are asked to provide “assent” or “dissent”, meaning they agree or do not agree to take part. To participate in this process, the child must be mature enough to understand the trial and what it entails. (2)
Children’s Minnesota’s AYA Center tailors care to adolescent’s and young adults’ distinct needs, which can significantly impact outcomes. “We strive to make our AYAs feel individualized,” explains Lori. “We have formed a team of physicians, nurse practitioners, and nurses that focus on AYA patients and their individual needs. The AYA population is a unique one. We want to make sure we are helping them gain independence, by looking at what is important to them, such as friends, school and socialization. We have also formed an AYA support group, where patients go out and do fun activities together, so they can see that there are other people living like them, that can connect to in ways that they can’t necessarily connect to their other friends.”
You can learn more by accessing the webinar recording here. View CISCRP’s library of webinars and podcasts here.
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.
(2) https://www.cancer.gov/about-cancer/treatment/clinical-trials/patient-safety/childrens-assent
Authored by Melissa E. Daley, Communications & Marketing Manager, CISCRP
CISCRP hosted a 3-part webinar series titled “Navigating Rare Disease and Clinical Research: Every Patient Matters”. This article brief is based on the first episode, “Rare Disease Clinical Trials: Being Informed”. Moderated by Christian Rubio of Global Genes, panelists included Dr. Jahannaz Dastgir of Goreyeb Children’s Hospital of Morristown, New Jersey, Melanie Havert of Rare Patient Voice, Jenn McNary, Founder of One Rare, and Stephanie Loomer, Project Manager, CISCRP. You can access the webinar recording here.
The biggest difference between common disease and rare disease clinical trials is “…probably the amount of people that can be enrolled in the trial,” says Dr. Jahannaz Dastgir, Director of Clinical Research, Applied Therapeutics and Lead Physician at Atlantic Health System’s Pediatric Neuromuscular Program. “With conditions like diabetes or heart disease, for example, you could have very large numbers of patients. In rare diseases, you would have a much smaller number, because there might be 20 cases of the condition, worldwide. You have to work out the statistics to make sure you have the right amount of data over the right amount of time to get the study to be statistically significant so that the drug can be approved.”
A disease or condition is classified as “rare” in the United States if it affects less than 200,000 individuals. This definition varies in other parts of the world. For example, in the European Union, a disease is defined as “rare” when less than 1 in 2,000 individuals are impacted. While there is no exact count, it’s estimated that there are approximately 7,000 rare disease effecting 25 to 30 million Americans (1) and over 300 million children and adults globally, roughly 3.5% to 5.9% of the population (2). Conducting clinical studies in the rare disease space to find safe and effective solutions is a collaborative effort by stakeholders in the clinical research enterprise including patients, patient advocates, product developers and medical research professionals.
“Our clinical trial journey really started with me having no knowledge of clinical trials,” recalls Jennifer McNary, a mother of four, rare disease patient advocate, educator and founder of One Rare, a nonprofit organization whose mission is to improve experiences for the rare disease community through education, mentoring and peer support. Jennifer’s connection to the rare disease community is particularly poignant.
“My three sons all live with rare diseases. My first two sons, are now 22 and 19, are living with Duchenne Muscular Dystrophy. I also have a third son living with 2 rare diseases, primary immune deficiency and congenital cholesteatoma. He is 13 years old. And I have a daughter who is healthy,” says Jennifer. When her two older sons were diagnosed as children, Jennifer was advised that “…there were no treatments, no therapies, there was nothing I could do and in fact, there were no clinical trials that we could think about enrolling in.” Jennifer took matters into her own hands and shares “I spent a lot of years raising money and funds for science and going to advocacy meetings.”
Jennifer also pursued clinical research as a healthcare option for her two older sons in hopes of changing the trajectory of their disease progression.
“Thankfully, when Max was 9 years old, and his brother, Austin was 12, we were allowed to participate in our first clinical trial. It was a lot of work to get to this point,” she recalls. Through personal connections, Jennifer learned about a clinical trial in Columbus, Ohio, at Nationwide Children’s Hospital. The clinical study was specific to a certain mutation in Duchenne Muscular Dystrophy.
“I dug out my kids’ genetic report and I realized that my kids actually had this genetic mutation and could qualify for the study. When I called the (clinical research) site and asked them if my sons could be part of the study, they told me that there were a few things we had to do. The first thing was that we had to answer a few questions about the kids’ mobility and ability to walk. Unfortunately, because Austin was 12 and had lost the ability to walk at age 10, he was not able to enter the study or even be considered. But Max was the right age, has the right genetic mutation, and he was functionally the right kind of kid that they were looking for to bring into this 12-person study. And so, I packed up Max, and my newborn daughter at the time, Nora, and I left my three-year-old son and my 12-year-old non-ambulant son with some family and friends and we flew to Columbus, Ohio to meet with the doctors running the study,” says Jennifer.
At the time, Jennifer and her family lived in Vermont. Weekly travel to the clinical research center was required. “I didn’t have a lot of money and a lot of patients do not have the money to fly weekly, stay in hotels, get rental cars, so I wanted to make sure that this was all going to be reimbursed and that patients were not going to have to pay for their time in a study,” says Jennifer.
It’s important to ask questions about all aspects of the clinical study, so that you have a complete understanding of what it entails for both the participants and caregivers. Equally important, is that you feel comfortable and confident in asking questions to the research center staff- study coordinators and/or the Principal Investigator.
“One of the questions I asked when we were evaluating this study was what happens at the end of the study, if my child didn’t get the drug, do they continue to receive the study drug, (when the study is completed)? This is called an extension study. I always ask at the beginning of a clinical trial, is there an extension planned, and will all of these patients receive the active drug, if it works?” says Jennifer.
Melanie Havert is a patient advocate and project manager at Rare Patient Voice, which provides patients and caregivers with rare diseases an opportunity to voice their opinions through surveys and interviews to improve medical products and services. When she is discussing details with clinical research staff “A question I always like to ask is have any other people had this drug yet or are we going to be the first ones to try this? Of course, it’s tested extensively before it gets to people, but I like to know where we’re at, at that phase.”
“My instinct is to ask questions about the data that exists around this and why do they (clinical research staff) think it’s going to work. What do you know about this therapy that leads you to believe that it’s going to do something?” says Jennifer. She also advises that participants or caregivers need to ask about any lasting implications from participating in the study. “Ask that question because you don’t want to end up eliminating yourself from future clinical trials and from having flexibility to choose what therapies you want to take. Once you’re in a clinical trial, you often can’t change your current treatments.”
A common question that participants and caregivers ask is what the first day of a clinical trial is like.
“The first day can be pretty intense,” says Melanie. “In my experience, you get a stack of papers, and someone sits down with you and you spend a couple hours going over these papers, and they make sure that you completely understand what you’re about to do to participate in the clinical trial. They really walk you through the process.” (This is called Informed Consent and you can learn more about it here). There may also be blood draws and urine samples taken, along with other initial benchmark testing. “It really depends on the specific drug and how they are handling it that day. It’s pretty intense but it’s worth it.”
Dr. Dastgir adds “You will get additional testing that is part of the trial. And the results of these you may or may not be privy to. It’s really important to maintain the standard of care locally.” Dr. Dastgir says the care that a participant receives during a clinical study is “…an enhancement of care, better access to experts but not a substitution for the standard of care that you get back home with your local provider.”
Melanie observes that “Something that I’ve noticed is that when you go see your regular doctor, you can ask them questions and they have answers for you. When you’re in a clinical trial, it’s the doctors that are asking you questions, and you’re giving them the answers.” Participants can ask questions in a clinical trial, as well.
In the era of social media, patients and caregivers have unprecedented access to information sharing platforms. Dr. Dastgir says “Social media is the Wild Wild West in terms of what kind of information you’re receiving, and whether it’s correct or not. When people sign the consent form, there’s some level of discretion and confidentiality that exists, and whether or not that gets implemented is primarily good faith.”
Both common disease and rare disease clinical trials for children and adults are monitored by the FDA (Food and Drug Administration) the NIH (National Institute of Health) and IRBs (Institutional Review Boards). You can learn more about safety protocols in clinical research here.
“I do have a lot of faith in the safety of this system,” says Jennifer. “There are a lot of safety nets to capture adverse events and to protect children in studies. I am happy to report that this was a positive example of being in a clinical trial, because this therapy was approved based on the study that Max was in. We’re still on the hunt for the next best therapy, and we’re hoping to be accepted into another trial. I would give this experience a 10 out of 10.”
“Most rare diseases are genetic or have a genetic component and 75% of rare diseases are without a single FDA-approved treatment. On average, it takes an average of 7.3 years to receive an accurate diagnosis of a rare disease,” says Christian Rubio of Global Genes. Clinical research is essential to addressing these disease states and indications in order to find treatments, therapies and cures.
You can view part-two of the series, “Rare Disease Clinical Trials: How to Prepare for When the Clinical Trial Ends” here and part-three, “Rare Disease Clinical Trials: After Participation, Paying It Forward” here.
To search for medical conditions in a specific location, visit our Search Clinical Trials page.
Access the companion infographics:
To stay informed about clinical trials, visit our Resources page.
Sources
(1) https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
(2) https://www.rarediseaseday.org/article/what-is-a-rare-disease
###
The Trifecta lived daily by Rare Disease families is now experienced by the whole world: 1) Isolation, 2) Medical Uncertainty, 3) Disruptions in Home/Work Life. Scott Schliebner of ICON & Cristol Barrett O’Loughlin of Angel Aid Cares discuss how caregivers are navigating the impact of these three forces for the whole family.
You can access the article brief based on the webinar here.
Moderator
Scott Schliebner
SVP, Scientific Affairs
Therapeutic Expertise Head
Center for Rare Diseases, ICON
Click on image for biography.
Panelist
Cristol Barrett O’Loughlin
Founder & CEO
Angel Aid Cares
Click on image for biography.
Gain a better understanding of rare disease clinical trials by listening to patient advocates and health care providers, learn how to be prepared for when the trial ends, and hear from those who chose to be advocates in this 3 part webinar series.
Moderator
Christian Rubio
VP of Strategic Advancement,
Global Genes
Panelist
Dr. Jahannaz Dastgir DO
Director, Pediatric Neuromuscular Program,
Goryeb Children’s Hospital
Panelist
Melanie Havert
Project Manager,
Rare Patient Voice, LLC
Panelist
Jenn McNary
Founder & Patient Advocate,
One Rare
Presenter
Stephanie Loomer
Project Manager,
CISCRP
Marsha Lanes,
Genetic Counselor/
Medical Editor,
NORD
Dr. Tracy Dixon-Salazar,
Executive Director,
Lennox-Gastaut
Syndrome Foundation
Richie Kahn, MPH
Senior Director,
Patient Engagement,
Medable Inc.
Dana Holinka,
Operating Board Member,
TSC Alliance
Britta Dornan
EveryLife Foundation for Rare Diseases
Ryan Colburn
Patient Advocate
(Pompe disease)
Dr. Kim Stephens
Project Alive
Marc Yale
International Pemphigus & Pemphigoid Foundation
Part 1:
Part 2:
Part 3:
