My son’s time is running out due to a rare disease. The FDA needs to add more clinical trial flexibility

My toddler, Wheeler, will probably not live to adulthood. Juvenile Batten disease — he has the type known as CLN3 — is stealing his childhood. And then this rare disease will steal my child.

Wheeler is missing the DNA needed to recycle a waste product called lipofuscin that his cells naturally produce. As lipofuscin builds up, his condition will get worse, robbing him of his eyesight, his speech, his mobility, and ultimately his life.

Our only hope is finding a treatment to cure, or at least a way to slow down this unrelenting disease. At age 3, Wheeler already has sleep and behavior problems, as well as delays in his speech and fine motor development. He recently began moving closer to the TV and rubbing his eyes, signals that in a matter of months or weeks he may soon live the rest of his life blind.

These words are hard to type. One of the hardest parts of being the parent of a child with a rare disorder is the feeling of helplessness. In addition to raising children with debilitating medical conditions, you must also assume the role of scientist, clinical research manager, fundraiser, and pharma/biotech CEO.

I’m fortunate that my background as a former deputy chief of staff for the Department of Health and Human Services makes it easier to navigate the maze faced by people with rare diseases and their caregivers. During the Covid-19 pandemic, I saw our government move mountains to save lives. I know how the system can develop treatments in record time.

Despite their name, rare diseases are not so rare. They affect nearly 1 in 10 Americans. There may be nearly 11,000 rare diseases, and 3 in 10 children with one of them will not live to see their fifth birthday. Some 95% of rare diseases lack a treatment or therapy that has been approved by the Food and Drug Administration. The urgency to advance research and treatment is real.

There is a ray of hope for Wheeler: a generic drug called miglustat that may delay the progression of his disease. Miglustat is not a new drug; it has been approved for other disease states since 2003 and is safe. But it isn’t approved for CLN3. Our family is hoping that Wheeler can be among the first CLN3 children to demonstrate miglustat’s effectiveness, but a clinical trial of it for children is still a year off. We don’t have that time to waste.

A clinical trial is essential because Wheeler’s health insurers — private and Medicaid — have denied coverage for it because it is not FDA-approved for CLN3, his circumstances notwithstanding, and miglustat costs $24,000 a month. The appeals process continues, but as recent reporting has shown, the chances of getting coverage for this off-label use are slim, and Wheeler’s time is running out.

To make matters worse, the FDA’s Division of Rare Diseases and Medical Genetics has insisted that the trial include a placebo. This is a huge obstacle and, if you think this is unethical, you aren’t alone. In this kind of situation, use of a placebo in a progressive rare disease should be considered unethical as it is likely to result in irreversible harm, death, or other serious morbidity.

It doesn’t have to be this way. At HHS, I saw how Operation Warp Speed accelerated the development and deployment of lifesaving vaccines and therapeutics against Covid-19 and facilitated a public-private partnership between regulators and industry when time mattered. What’s needed is a paradigm shift, a bold and revolutionary new way to quickly bring lifesaving therapies to Wheeler and millions of people like him with rare diseases.

The government’s response to rare diseases has been uneven, at best. The Center for Biologics Evaluation and Research (CBER) is planning a pilot program for an Operation Warp Speed for rare diseases, as well as other initiatives to accelerate the development of rare disease therapies. Sadly, the Division of Rare Diseases and Medical Genetics, once known for its flexibility on rare disease and orphan drugs, is taking a more conservative approach than it has in the past.

This failure to act is hindering the search for solutions to other rare diseases, such as Niemann-Pick type C, and is at odds with longstanding FDA policy regarding flexibility for rare and debilitating diseases. If the FDA is unwilling to help lead biopharma companies and family foundations through the gauntlet of testing and approval for rare disease treatments it should, at the very least, get out of the way.

When Wheeler was diagnosed with CLN3 at 4 weeks old, doctor after doctor told us there was no treatment, and that we should make as many memories as possible. It wasn’t until a colleague — a career civil servant at the FDA — visited me that I heard a message of hope: “There always has to be a first, and there is no reason why it can’t be your son.”

The irony that the FDA is standing in our way is not lost on me, but I don’t have time for irony. The FDA marked this year’s Rare Disease Day on Feb. 27 with a virtual public meeting on the topic, with more than 5,700 people taking part — an indication of what an important time it is for rare disease. In his opening remarks, FDA Commissioner Robert Califf reiterated his priority for re-examining and increasing the effectiveness for clinical trials and the essential role of patients in developing treatments. He also announced a new funding opportunity for neurodegenerative disease programs to start natural history studies, and emphasized that the importance of biomarkers and natural history study data.

This funding opportunity and Califf’s emphasis on the importance of natural history data struck me as being at odds with clinical trial designs in rare disease that discount natural history data in favor of placebo arms. The fact that the FDA hosted a daylong event on rare disease is encouraging, but more leadership is needed so that accelerated activities in rare disease are universal across the agency.

It’s time for Califf and the FDA to fundamentally reimagine how drugs for rare diseases are developed and remove needless obstacles that hinder clinical trials for them. There is an urgent need to recommit to rational flexibility, not just for Wheeler but for so many others whose time is running out.

Judy Stecker is a health care public relations professional engaged with clients in the rare disease space, and the co-founder of www.WheelersWarriors.org. She was the assistant secretary of public affairs at the Department of Health and Human Services from 2018 to 2019 and deputy chief of staff from 2019 to 2021.