Revolutionizing Clinical Trials to Expedite Cures for Rare Diseases

Revolutionizing Clinical Trials to Expedite Cures for Rare Diseases

An innovative approach is making a difference in patients’ lives

In traditional clinical trials, every potential treatment requires its own trial, starting with a new protocol, an extensive approval process, trial site selection (which, for a rare disease, is often numerous), patient recruitment, analysis, and evaluation. Once complete, the machine is disassembled and rebuilt to test the next drug. Suffice it to say, this is a slow and cumbersome process, generating obstructions to study results and slowing down drug development.

The Children's Tumor Foundation (CTF) is breaking down barriers to drug development with a transformative solution called platform trials. These trials start with a master protocol, which all participating sites agree to at the start. One of the most significant points of agreement is what success looks like. Then, drugs are plugged into this master protocol as they become available. In a platform trial, patients can more easily switch to another treatment if they’re not responding to the drug, whereas in a traditional trial they’d have to start over, enrolling in another trial, if one existed for which they qualified. Patients who do not respond to any drug are moved to a “waiting room” until another drug becomes available.

The result is populating trials swiftly, which can be particularly attractive to drug companies, and bringing effective treatments to our patients faster. Patients like Michael Skyer, PhD, an adult living with NF2-related schwannomatosis. Michael was diagnosed as a child, and at that time, there were exactly two paths forward: surgery or do nothing. Since then, Michael has tried a number of different treatments, including surgical procedures, radiation therapy, and multiple clinical trials, including a platform trial.

CTF's pioneering investments include two platform trials:

INTUITT for NF2-SWN and the EU-PEARL designed platform trial, in partnership with the Global Coalition for Adaptive Research (GCAR). INTUITT has been active since 2020 and demonstrates CTF's commitment to NF2-SWN care, rapidly identifying potential treatments. Its multifaceted objectives include nimble therapy screening and the parallel assessment of treatments for diverse NF2-SWN manifestations. The EU-PEARL-designed platform trial encompasses all types of benign tumors associated with NF in a singular, adaptive framework, dramatically accelerating the pace of discovery and the development of effective therapeutic interventions across the NF spectrum.

Michael was part of the original INTUITT cohort and began the trial at the start of the pandemic. He has tolerated brigatinib quite well, and it is, indeed, slowing down the growth of all his spinal and peripheral nerve tumors. From “do nothing,” “wait and see,” and “surgery is the only option,” to where we are today: with multiple drug options that are effectively slowing down tumor growth.

Kevin Martin, 2024 NF Ambassador

Kevin Martin, a young adult from New York, is CTF’s 2024 National Ambassador. This award is bestowed upon an individual with NF to recognize their courage in living with the condition and their personal efforts to further the Foundation's goals of research, public awareness, and patient support.

Kevin was diagnosed with neurofibromatosis type 1 (NF1) at the young age of two years old. Interestingly, his diagnosis was the result of tagging along to his brother’s appointment for a strep test. The pediatrician expressed concerns about the size of Kevin’s head—it was bigger than it should have been for his age—and sent him for testing. An NF diagnosis soon followed.

Kevin has been involved with the Children’s Tumor Foundation since childhood in numerous ways to raise awareness and money to fund research. Now a member of the Junior Board, Kevin helps lead a group of young professionals, “One thing I would say to patients with NF is as scary as it can be, there’s a whole group of people who are in this community who will have your back, who are going through the exact same thing. Meeting people at all these CTF events, I’ve had such a supportive group of friends that I’ve met who know exactly what I’m dealing with. And I wouldn’t trade that for the world. It’s been an amazing experience being involved with CTF. It’s brought so many benefits to my life. As scary as it can be, there’s also a positive side to it.”

What is NF?

NF is a group of genetic conditions that cause tumors to grow on nerves throughout the body. One in every 2,000 people is born with some type of neurofibromatosis or schwannomatosis, which may lead to blindness, deafness, bone abnormalities, disfigurement, learning disabilities, disabling pain, or cancer. Roughly half of all cases arise in families with no history of the condition. NF affects all populations regardless of race, ethnicity, or gender.

There are many types of NF, including neurofibromatosis type 1 (NF1) and all forms of schwannomatosis (SWN), including NF2-related schwannomatosis (NF2-SWN), formerly called neurofibromatosis type 2.

Who is the Children’s Tumor Foundation?

The Children’s Tumor Foundation is the world’s leading organization dedicated to funding and driving innovative research that will result in effective treatments for the millions of people worldwide living with NF, a group of genetic conditions that causes tumors to grow on nerves throughout the body. One in every 2,000 people is born with some type of neurofibromatosis or schwannomatosis, which may lead to blindness, deafness, bone abnormalities, disfigurement, learning disabilities, disabling pain, or cancer. NF affects all populations equally, and while there is no cure yet, the Children’s Tumor Foundation's mission of driving research, expanding knowledge, and advancing care for the NF community fosters our vision of one day ending NF.