Featured Story: Heard! Second FDA Patient Listening Session Focuses on JHD

Posted on at May 25, 2023
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Heard! Second FDA Patient Listening Session Focuses on JHD

Katie Jackson was caregiver to her husband throughout his 14-year-long battle with Huntington’s disease. She is the CEO of Help 4 HD International and recipient of multiple awards, including the World Stem Cell Inspiration Award. She has led numerous programs for Help 4 HD International, raising millions in grants throughout the years. Jackson has also educated law enforcement, first responders, and other professionals on subjects pertaining to HD. 

We at Help 4 HD International want to share our experience of obtaining a Patient Listening Session (PLS) with the FDA, where seven mothers presented, by Zoom, their personal stories of their children with Juvenile -onset Huntington’s disease. BJ Viau and Seth Rotberg were granted a PLS last year; these two events were the beginning of what we hope are a series of personal contacts with the FDA to communicate the perspectives of families and patients. We hope others can learn from the process we went through and keep the torch burning.

Months of Legwork

In July of 2022, we at Help 4 HD International sent a request to the FDA for a Patient Listening Session (PLS) on juvenile-onset Huntington’s disease (JHD). Within a couple of weeks, we heard back from the FDA Patient Affairs team, who advised us to submit a full application to various offices of the FDA, asking them if they had an interest in hearing more about the patient and caregiver human experience of living in a home impacted by JHD.

On October 7, 2022, we received an email from the Patient Affairs team at the FDA, stating that our request was sent to the Center for Biologics Evaluation and Research, The Center for Devices and Radiological Health, and the Center for Drug Evaluation and Research. After all three divisions reviewed our request, they determined that it would be beneficial for each center to be represented there.

I had been one of the 10 speakers at an in-person, full Patient Focus Drug Development (PFDD) meeting with the FDA in 2015, which was followed by a 2022 PLS led by BJ Viau and Seth Rotberg. A huge group of us attended that very important meeting in 2015. I was the first to speak that day, which was an incredible honor to me.

After receiving the October email, we went to work finding seven speakers to represent our JHD community. From there, we created session topics and goals, reached out to other HD organizations for letters of support and pre-session materials, created the pre-session material packet, and wrote financial disclosures.

Last, we sent out a 20-question survey to families impacted by JHD. It included questions about the young person’s CAG repeats, gender, inheritance from mother or father, symptoms, injuries, hospitalizations, falls and medications. We also asked what risks families were and were not willing to take when it came to their children participating in clinical trials, and more. Over 60 families completed the survey prior to the meeting.

All the data was reported to the FDA and we explained that we would continue to keep it open and collect information to help them support future decisions on JHD drug development and access to treatment.

Our Big Day Arrives

In February 10, 2023, we met with the 16 FDA members. The FDA Patient Affairs team opened up the session, and I represented our organization in going over the topics, goals/hopes for the session.

I related to the panel that while we know that there is compassionate/expanded use and access pathways, there is a huge challenge for families having to fill out forms for this, talk to their health care providers and lean on them to get the FDA and industry all of the proper paperwork. I explained that they would hear today how these mothers have attempted this path and have yet to be successful on being granted compassionate use or access.

Also, I said that we understand that drugs can be used off-label, but this, too, puts a significant responsibility on the family having to fight with insurance companies; if it is an expensive therapy or treatment, insurance companies may use the fact that it is off-label as an excuse to not cover the therapy or treatment. It isn’t approved for this disease, so third-party payers won’t pay for it.

If industry would request approval for the children to be included in these adult trials, and the FDA would grant that approval, it would help the families and provide the children with access to possible future life-saving therapies or quality-of-life treatments. This may require that the sponsor follow the children for an extended time while on the therapy and report back to the FDA data on safety and efficacy. However, it would eliminate the long wait for access, as well as eliminate a placebo group that, as the panel would hear from the parents today, seems almost cruel. The disease progresses so rapidly… can’t the children be their own controls?

Seven Mothers Speak

I then went over some of the data collected through the survey. After that, I began introducing the mothers and caregivers, and one at a time, they related their individual stories about their children with JHD. Symptoms ranged from neuropathy and pain, dystonia, tremors and chorea, and trouble swallowing, to hallucinations, seizures, cognitive decline and memory loss. On the emotional side, they described anxiety, depression and withdrawal, bullying and attempts at self-harm.

Each mother/caregiver also described the treatments their children were on and talked about the impact of the disease on their families’ lives — the losses of enjoyment and of the happy milestones that mark the lives of young people not afflicted with a degenerative disease. They also talked about the risks they were willing to take for the potential that a treatment would help their child.

Specifically, we expressed our wishes that disease-modifying therapies approved for adults would be approved for the children as well.

One mother expressed her frustrations with trying to use compassionate use pathways multiple times and being turned away every time.

Our unified message was expressed well by Holly, who wrapped up her talk with this plea:

Please help our children. Please think about labeling if a drug is approved for adult-onset HD and giving children access to the drugs, even if it means that the children have to be followed for a couple years in an extended safety and efficacy study.

At the end of these testimonials, Olivia, a 16-year-old with JHD was brought in so that the FDA could meet a young person directly affected by juvenile HD.

The FDA Responds

In the Q&A session that followed, the FDA panel expressed how important these listening sessions are for the FDA to be able to listen and absorb all they can from the patients and caregivers. They said that the FDA panel were the students, and the presenters, the experts. They said they talk to medical professionals and sponsors all the time but they rarely get an opportunity to talk to the patients that actually live with the disease every day.

They expressed that the session effectively reinforced something they already know — that the smaller patient population groups have more challenges in participating in clinical trials.

Together, we talked about how, in addition to being very focused on the burdens of Huntington’s disease and its subpopulations, they also see the opportunities to attempt to do these trials, leveraging the science as fast as it allows them to do so.

They addressed what we talked about during the session — that even when a therapy is approved, that’s not always the end of our battles for access, because third party payers and others make it difficult for access. They expressed that the FDA is very thoughtful with the language used during this process of labeling etc., so they don’t cause unnecessary burdens on families.

In summary, we were assured that the FDA wants to make sure that diseases that have pediatric manifestations aren’t abandoned or ignored.

One member of the FDA said she understood that if there were treatment options, early intervention may be ideal. She applauded how the HD community is “taking back our voices” and stating that this is our disease and it is our right to make decisions for us.

An Auspicious Start

We have received wonderful responses since the meeting, including letters from the FDA’s Office of Pediatrics as well as CBER’s office of Tissues and Advance Therapies.

We understand this is just the beginning. If we want trials, treatments, and therapies available for our children, it is going to take regulatory agencies, sponsors, medical professionals, organizations, and advocates all working together for change.

Other disease spaces have accomplished their goals, finding effective therapies for children living with rare terminal diseases. JHD has been left on the sidelines too long, with no voice and no hope.

We walked away from this PLS with hope and a sense of accomplishment. Finally, our children’s voices were heard and we have hope that the narrative will start to shift, that everyone will start to truly understand the urgency and not only talk about it, but take action.

To help fuel this, Help 4 HD International has put together a Juvenile Huntington’s Disease Patient Listening Session Overview that is being reviewed by the FDA and should be up on the FDA’s website soon.

Patient Listening Session with the FDA


  • JHD symptoms
  • The difference between JHD and adult-onset HD
  • Symptom differences in siblings with JHD


  • The FDA will have a greater understanding of JHD.
  • We provide the FDA with the patient perspective for JHD to consider for regulatory decisions.
  • We would help the FDA understand the risks the parents are willing and not willing to take when it comes to their children participating in clinical trials.
  • We would create an understanding for our JHD community that the FDA does care about JHD and understands the urgency.

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