(BPT) - Former U.S. Congressman Gregg Harper's son, Livingston, has Fragile X Syndrome (FXS), a rare neurological disease often misdiagnosed as autism or attention deficit/hyperactivity disorder (ADHD). FXS affects 1 in 4,000 boys and 1 in 8,000 girls worldwide1 and is the most common inherited cause of autism and intellectual disability. At 34 years old, Livingston continues to wait for an FDA-approved therapy to treat his FXS symptoms.
Gregg laments the lack of clinical research when Livingston was first diagnosed at just four years old, 'Thirty years ago, I don't think many pediatricians knew what Fragile X Syndrome was, let alone how to test for it and diagnosis it. There were no clinical trials to even consider.'
He continues, 'Today, pediatricians can conduct a simple genetic test for FXS and there are multiple clinical trials underway in hopes of introducing new, effective treatments for this genetic disorder. It's so important for families to participate in these trials because they may open doors that help our entire FXS community.'
Gregg is also realistic about potential barriers to participation in clinical research for FXS families. Many people with FXS have behavioral symptoms and anxiety that can make trial visits challenging for their caregivers and the individual.
Gregg shares that when his son was young, his wife would take Livingston to speech and occupational therapy and other medical appointments, with his younger sister in tow. 'The numerous doctors' appointments and tests can disrupt the whole family.'
When Gregg learned about a new approach to clinical trials that has emerged allowing for at-home participation, he noted, 'that would have been a game changer for our family!'
Science 37, a company that supports at-home clinical trials, keeps the patient at the center of its work by bringing clinical trials directly to them no matter where they live. This helps increase the diversity of trial participants and promotes inclusivity - so important to advancing scientific discovery.
Dr. David Kudrow is the medical director of neurology for the company. 'With the Science 37 approach, we can reach patients across the US and not be limited in any way by geographic constraints,' he said. 'With our model, you don't need to sit in the same room as the patient. If an investigator is licensed in the state where the patient lives, we can conduct a study visit.'
Once a patient is screened and enrolled for a clinical trial using telemedicine - appointments by computer, tablet or smartphone - patients and families continue to participate via 'virtual' visits.' Additionally, mobile nurses, who are trained and employed by Science 37, visit patients to check vital signs, collect bloodwork and perform other medical evaluations and tests, such as electrocardiograms (ECGs).
As Dr. Kudrow explains, 'Children and young adults with FXS don't have to live near a trial center and caregivers don't have to miss work or travel with their child to various appointments. On top of that, they still have their entire care team outside of the clinical trial, whom they continue to see for regularly scheduled check-ups. The Science 37 team keeps their care team informed of the trial involvement and progress.'
Dr. Kudrow noted, 'With Science 37's approach and at-home clinical trials like the RECONNECT study, which is currently enrolling, we can reach into any community, support diversity, and go beyond geographic, conventional boundaries to deliver reliable data.'
He concluded: 'This is a very special population - not just the kids, but the families. Some families have multiple children with FXS and would otherwise have to travel to a clinical trial site. With respect to convenience, what Science 37 has been able to provide is invaluable. We can go where the patients are.'
Added Gregg: 'People should avail themselves of this unique opportunity. I'm excited about it and hope that families who are dealing with FXS realize that we must have participants in these trials to discover new treatments. I urge families to take this opportunity. It's free, it's easy and, at the end of the road, it may change lives.'
To learn more about FXS and the ongoing RECONNECT clinical trial of an investigational treatment, visit FragileXHelp.com for more information.
Content sponsored and provided by Harmony Biosciences/Zynerba Pharmaceuticals, Inc. Gregg Harper has partnered with Zynerba to increase awareness of FXS and highlight the vital role of clinical trials in discovering and studying new investigational treatments for rare diseases.
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