COMBINEDBrain works with researchers, clinicians, patient advocacy groups, and industry partners to build the infrastructure needed to support successful clinical trials. Through natural history studies, outcome measure development, diagnostic recognition, and trial readiness initiatives, we help create the foundation necessary to evaluate new therapies and accelerate treatment development.
Natural History Studies Natural history studies document how a condition develops and changes over time in real-world settings. These studies capture clinical features, disease progression, and variability across individuals. This information forms the foundation for understanding disease biology and designing meaningful clinical trials. Please contact: Studies@combinedbrain.org | Outcome Measures Outcome measures are the clinical assessments used to determine whether a treatment is working. Developing reliable and meaningful measures ensures that clinical trials can accurately detect improvements in symptoms, function, or quality of life. COMBINEDBrain works with researchers, clinicians, and families to identify and validate measures relevant to rare neurodevelopmental disorders. Please contact: Studies@combinedbrain.org |
ICD-10 Codes ICD-10 diagnostic codes enable rare disorders to be recognized within healthcare systems, medical records, and insurance frameworks. Establishing accurate codes helps clinicians track diagnoses, improves patient identification, and supports large-scale research using health system data. These codes also help ensure rare disease communities are visible in healthcare and policy systems. Please contact: Kellan.Weston@combinedbrain.org | Clinical Trial Readiness Clinical trial readiness prepares a disorder community for therapeutic development. This includes building patient registries, establishing research cohorts, developing biomarkers, and identifying clinical trial sites. By creating this infrastructure early, communities can rapidly support trials when promising therapies emerge. Please contact: Studies@combinedbrain.org |
Mortality Study
The Mortality Study on Rare Neurogenetic Disorders aims to identify common causes of death among individuals with rare neurogenetic disorders in order to improve clinical understanding, care strategies, and long-term patient outcomes. Participation will be open to guardians, caregivers, or close family members of deceased individuals who had a diagnosed neurogenetic disorder. Participants will be asked to complete a brief survey, confirm the genetic diagnosis, provide a death certificate and any available medical records, and take part in an interview about the individual’s medical history and circumstances. This mortality study includes all rare neurogenetic disorders, and participants do not need to be members of COMBINEDBrain to participate. Funding comes from voluntary contributions by Patient Advocacy Groups, contracts for disorder-specific case studies, and COMBINEDBrain operating funds, with additional support pending. The study is currently upcoming, with recruitment expected to begin in 2026, and interested individuals can reach out via email for more information or to get involved. Please contact: MortalityStudy@combinedbrain.org |
