By Debbie Drell
I’ve been a part of thousands of conference calls and virtual meetings during the course of my career. But while the details of many of those conversations get blurred over time, I can still clearly remember the voices and stories from a 60-minute conference call on October 23, 2018.
On that seemingly nondescript day nearly five years ago, a small team of staff from the U.S. Food and Drug Administration (FDA) and National Organization for Rare Disorders (NORD) opened a conference call line to meet with seven people who had been diagnosed with hemophilia or were caring for children with this condition.
What we heard was truly powerful.
During that hour, patients and caregivers shared their fears and hopes for the future of gene therapy as a treatment for hemophilia — a rare, genetic bleeding disorder that is well-known for its cause of difficulty in blood clotting.
The call was one of the first NORD/FDA Patient Listening sessions, and patients shared quite vulnerably — sometimes through tears — their concerns and hopes for clinical trials involving gene therapy.
The call gave the FDA a chance to hear directly from patients and caregivers about their experiences. The FDA’s team wanted to learn many things, including whether someone living with hemophilia would be willing to participate in a clinical trial in gene therapy if there were risks involved. Specifically, they wanted to learn what level of benefit would outweigh the risks.
It was during this call that I saw firsthand the power of these patient listening sessions.
The FDA heard clearly from patients and caregivers that enrolling in clinical trials is a family decision – and that children must be involved as well:
“…the decision to enroll in a clinical trial affects many people beyond the patient. This could include their spouse, children, parents/siblings, and other dependents, all of whom should be involved in the decision to enroll. If a clinical trial were available for children, the child should be old enough to be involved in the decision and understand the commitment of the trial.” (citation: FDA-Requested Patient Listening Session Summaries, https://www.fda.gov/media/124436/download)
Since then, the FDA and NORD have hosted a total of 14 listening sessions that bring the rare disease patient and caregiver voice to FDA scientists and researchers.
This partnership offers people living with an array of rare diseases access to an important avenue for helping advance medical research and new product development and gives FDA professionals the chance to hear directly from rare disease patients and caregivers as they make decisions about new treatments and products.
Creating Connections
Any time a person with a rare disease has a chance to share their story with the FDA, it’s a significant moment.
But these opportunities do not happen in a vacuum. The FDA needs to be sure it is hearing from a diverse cross-section of patient voices and experiences in order to gain a deeper understanding of what matters most to those who are living with rare conditions. And the patients and caregivers who participate must feel safe and comfortable before they can provide personal and sometimes intimate accounts of their rare disease journey.
That’s why NORD is such an important partner in the Patient Listening Sessions program.
As a result of our 40-year history of serving the rare disease community, we have built deep relationships with rare disease patients and patient organizations.
In working with the FDA to arrange and facilitate these sessions, NORD engages diverse rare disease patient communities — ensuring the FDA hears perspectives that reflect a cross-section of those who are impacted by rare diseases.
In addition to helping find patients and caregivers, NORD also helps prepare patients and caregivers participating in FDA listening sessions to ensure that they feel comfortable, safe, and confident about their participation.
For example, when we approached one of NORD’s 340 patient organization partners — the Proteus Syndrome Foundation — to take part in a 2022 listening session, we took the time to fully explain the process and help participants prepare for the opportunity.
Our process empowered participants in the listening session to feel safe and comfortable when they took part in their listening session.
“Our community was unfamiliar with FDA Listening Sessions, but when NORD came to our Family Conference in Bethesda, MD, to speak about it, they became excited for the chance to inform the FDA of their experiences with proteus syndrome,” said Kim Green, Executive Director, Proteus Syndrome Foundation.
Advancing Research and Therapies
Since the start of this partnership, NORD has helped coordinate listening sessions involving 100 patients and caregivers across a diverse range of more than 11 rare diseases ranging from Childhood Cerebral Adrenal Leukodystrophy (CCALD) to Fabry Disease and Mucopolysaccharidosis Type II (MPS II), or Hunter syndrome.
Patients and caregivers have answered quite honestly some tough, and real-life questions, such as:
- Would you be willing to accept severe or life-threatening risk in order to gain improvement in your child’s disease?
- Would you participate in a randomized clinical trial, given there is a possibility your child may receive the placebo?
- Is there a way to make clinical trials less burdensome, such as participating at a local facility?
In answering these and other questions, the rare disease community has an invaluable opportunity to help inform the FDA as it works to advance medical product development and new product approvals.
In turn, the FDA hears directly from patients about their lived experience — including the impact that their conditions have on their quality of life and how they manage their symptoms.
Throughout NORD’s 40-year history, we’ve been fortunate to have a strong partnership with the FDA to help ensure that rare disease patients have a seat at the table and that their voices are heard.
The Patient Listening Sessions carry that tradition forward as both NORD and FDA work to ensure that more patients have to ensure that patients with rare diseases have the opportunity to share their experiences living with and managing a rare disease with FDA..
Debbie Drell is Director of Membership at the National Organization for Rare Disorders
