FDA Puts "Partial Hold" on Rare disease Drug
As a nurse it is defeating to know you have exhausted every avenue to help your child. I am helpless. No cure, no treatment, no drugs, just supportive care like diet, speech therapy and occupational therapy.
When Applied therapeutics came into our lives it was the first and only hope. It was a heavy burden lifted off my shoulders. An opportunity to improve my daughter’s life. As a family we weighed the options and took great care when making the decision to join the drug trail on AT-007. We were told the process of approval and the timeline. We joined, had nurse visits and lab days. We were ready for what was asked of us.
The day before traveling to Atlanta for dose day it was canceled because of covid-19 concerns. We would have to wait another year before we could start again. Fast forward a year later we started up again. We have been with applied for almost 2 years, just on the brink of FDA approval and then in August 2021 and Jan 2022 articles revealed that the FDA wanted more from us.
MORE? I am tired and feel such defeat when the FDA put a partial pause on approval.
I am Frustrated. Overwhelmed. Anxious. Depressed.
She is only 4 and she is stronger than anyone I know. I just want to be a mom not a nurse making decisions. I want to hold her when she cries because she fell playing on a playground, not holding her crying because she has more lab work.
We have had endless days of pokes and prods from lab work, EKG’s, evaluations, phone calls, surveys, med logs, and coordination of care. Prior authorization, insurance phone calls, and meetings. We have worked hard as a family, and this has strained our physical and emotional health. I question what I do everyday. What is in her best interest and what will keep the balance of her mental and physical health? Is she getting placebo or the drug? Should we keep doing this to her? She has improved so much since starting. What if she is getting the drug and I stop the trial because we just can’t go on any more? What will this decision mean for her? Can we go on in this trial for more years? Will Applied have enough money to fund this extended research? Panic has set in again. I am worried. What if we never get this drug approved?
The FDA has us in “partial clinical hold.” I say “us” as in our family, the families dedicated to this trial, and the families waiting for this approval. We have waited so long. We are real people not an evidence-based research paper you read. We have names, faces, and each have unique painful stories. Our whole community is waiting for this little miracle drug. The article states the FDA is concerned with the size of the trail. I understand a large size trail group is ideal and gives more data, but we don’t have the luxury of numbers or finical help to extend research for much longer. We need special consideration for our size, it shouldn’t be used as a disadvantage. Our lack of numbers is why we don’t have a cure for galactosemia but a vaccine for covid in one year. We are a minority of people.
In my experience, Applied Therapeutics has gone above and beyond to help us through the trial. They listen to me and help make special accommodations to improve the hardships during a drug trial. They come with toys and bring extra staff to help with blood draw days. As a nurse I am fully aware of placebo effects, but Penelope has changed. Her life has improved. I know this drug works. It sounds small but in her latest IEP meeting her teacher bragged that she is the best drawer in her pre-k class. She wasn’t even able to hold a crayon in November. My house is covered in drawings. She is stronger, her speech and motor skills have improved way faster than I ever expected. I know there is a chance that she is on placebo but I believe deeply that she is doing better because of this drug. The FDA’s decision has deeply impacted our family. It also effects every rare disease.
I support the Haystack Project
I support the Access to Rare Indications Act (H.R. 6160)
I support the Helping Experts Accelerate Rare Treatments (HEART) Act (HR 1184)
Please support us and Applied Therapeutics with an Accelerated Approval Pathway.
Please join me in emailing, calling and writing the FDA for more support on Rare Disease.
