News in Focus: PDUFA VII is a step in the right direction for the rare disease community

Craig Martin is chief executive officer of Global Genes, a nonprofit organization whose mission is to increase public awareness for rare disease and globally connect, empower and educate individuals and rare disease foundations in person, print and online.

More than 400 million people worldwide are affected by 7,000+ rare diseases. In the U.S., around 1 in 10 people (more than 33 million Americans) have a rare condition. More than half of rare disease patients are children, and about one-third of them will die by the age of 5. On average, it takes rare disease patients 5-7 years to get a diagnosis – literally, a lifetime, for many patients.
 
Despite the collective scale of impact from rare conditions and their severity, only about 5 percent of rare diseases have an FDA-approved treatment. So, the urgency and scope of need for better pathways for treatments to be developed and reach patients and families is enormous.
 
As of this week, there is a glimmer of hope for better and faster progress on the horizon.
 
We are thrilled to see the news of FDA’s proposed pilot programs to accelerate and improve the process for rare disease drug development. The pilots — and eventual adoption of these approaches on a broader scale — would help address several key challenges that often confront rare disease treatments in development.
 
One of the proposed pilots, Split Real Time Application Review (STAR), would provide the opportunity to submit supportive information for new drug applications in two parts, which will help to alleviate pressures on regulators and perhaps allow for a more adaptive process. This should help avoid some of the delays and Complete Response Letters (CRLs) we’ve seen in recent years, getting urgently needed treatments to patients sooner.
 
Another proposed program, The Rare Disease Endpoint Advancement Pilot Program, would allow for a collaborative process with industry to develop more meaningful, consistent and relevant endpoints for clinical trials. This is especially important for rare diseases, many of which affect children and have major associated neurological or neuromuscular effects, the progression of which can be difficult to measure precisely and therefore difficult to determine the level of progress and impact achieved from a treatment.
 
This important FDA pilot will only truly work to its desired intent if it considers the voice and needs of rare patients and caregivers. These families are the ones who truly see, experience and can document the real human implications of a particular disease and are therefore best equipped to define what a “meaningful benefit” looks like that can be tested in a clinical trial.
 
We are also encouraged by FDA’s proposed pilot to identify, in advance of a clinical trial, what types of real-world evidence the agency will accept as part of regulatory submissions. It’s crucial that patients and caregivers be involved early in the process, as they ultimately will be the ones responsible for collecting and sharing this evidence.
 
All of this, of course, hinges upon Congress approving these pilots. They should, and we expect they will. Once that happens, we can turn our attention to ensuring the rare disease community supports, and is involved in, the advancement of these initiatives.
 
It bears noting the target dates for these pilot rollouts aren’t until 2023, which, in rare disease, seems like lightyears away -- and for many, will be far too late. With tens of millions of Americans without approved treatment options in the rare disease community, this is a public health issue. Given the speed with which we’ve moved mountains on other public health priorities, and considering the costly and tragic consequences associated with the current lack of approved treatments, we must find a way to move faster here. It’s imperative that we do.
 
We applaud FDA for recognizing the need to adjust its processes to better address the unique needs of rare diseases; and we look forward to helping these programs to be successful and assist in fostering agency and confidence in patients, allowing them to focus on their own wellbeing.