A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).
WHY IT MATTERS
As new treatments for AGS move toward clinical trials, this research ensures that the outcomes being measured in those trials reflect what patients and families actually care about—not just what doctors think is important.
Researchers are developing a new way to make sure patients with Aicardi-Goutieres Syndrome (AGS) have a real voice in designing clinical trials for new treatments. AGS is a rare genetic disease that affects the brain and causes inflammation. This study creates a method to listen to what matters most to patients and families so that future drug trials measure the things that actually improve their lives.
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS). Abstract: Aicardi-Goutières Syndrome (AGS) is a genetic type 1 interferonopathy that causes white matter abnormalities and intracranial calcifications, resulting in varying degrees of neurologic impairment and systemic manifestations. Novel disease-modifying therapies for AGS are forthcoming. The 2022 Food and Drug Administration guidance, "Patient-Focused Drug Development" (PFDD), emphasizes the importance of including patients' voices early in the design of clinical trials. This represents an urgent unmet need in rare disease research. In this study, we propose and pilot a new methodology to identify patient-centered Concepts of Interest (COIs) and suitable Clinical Outcome Assessments (COAs) for clinical trials. The study was performed under the Myelin Disease Biorepository Project within th Authors: Sevagamoorthy et al. Journal: Molecular genetics and metabolism MeSH: Humans, Autoimmune Diseases of the Nervous System, Nervous System Malformations, Clinical Trials as Topic, Rare Diseases, Patient-Centered Care, Pilot Projects
ASK YOUR DOCTOR
If you or a family member has AGS, ask your neurologist whether your medical center is involved in AGS research or clinical trials, and inquire about opportunities to participate in patient input for trial design.