- Conditions
- Genetic Disease, Chopra-Amiel-Gordon Syndrome, CAGS, ANKRD17
- Interventions
- Observational Study, Sample collection only
- Other
- Lead sponsor
- Boston Children's Hospital
- Other
- Eligibility
- Not listed
- Enrollment
- 125 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2030
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
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Showing 1–5
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- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder, Epilepsy, Seizure, Genetic Mutations, Autism in Children, Developmental Delay (Disorder)
- Interventions
- No Intervention: Observational Cohort
- Other
- Lead sponsor
- University of Missouri-Columbia
- Other
- Eligibility
- Up to 99 Years
- Enrollment
- 100 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2025 – 2028
- U.S. locations
- 1
- States / cities
- Columbia, Missouri
- Conditions
- Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A, Whistling Face Syndrome, Craniocarpotarsal Dysplasia, Craniocarpotarsal Dystrophy, Freeman-Sheldon Syndrome Variant, Sheldon-Hall Syndrome, Arthrogryposis Distal Type 2B, Gordon Syndrome, Arthrogryposis Distal Type 3, Arthrogryposis Distal Type 1, Arthrogryposis, Distal, Type 1A, Arthrogryposis Distal Type 1B, Arthrogryposis, Distal, Craniofacial Abnormalities, Arthrogryposis
- Interventions
- PTSD Checklist-Civilian (PCL-C), Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale (CES-D), Functional Enquiry (or Review of Systems) Form, Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire, FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI), Medical Records Review
- Other
- Lead sponsor
- Freeman-Sheldon Research Group, Inc.
- Other
- Eligibility
- Not listed
- Enrollment
- 2 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2022
- U.S. locations
- 1
- States / cities
- Buckhannon, West Virginia
- Conditions
- Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Freeman-Sheldon Syndrome Variant, Arthrogryposis Distal Type 1, Arthrogryposis Distal Type 3, Gordon Syndrome
- Interventions
- Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review, PTSD Checklist for DSM-5, Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale, Review of Systems, FACE-Q | Craniofacial - Appearance of the Face, FACE-Q | Craniofacial - Appearance Distress, FACE-Q | Craniofacial - Facial Function
- Other
- Lead sponsor
- Dufresne, Craig, MD, PC
- Other
- Eligibility
- Not listed
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2023
- U.S. locations
- 1
- States / cities
- Fairfax, Virginia
- Conditions
- Rare Diseases, Autism or Autistic Traits, Development Delay, SYT-SSX Fusion Protein Expression, Sleep Disorder, Epilepsy, Generalized, Motor Delay
- Interventions
- Brain Magnetic Resonance Imaging (MRI), Whole Genome Sequencing, Induced Pluripotential Stem Cells
- Diagnostic Test · Genetic · Other
- Lead sponsor
- University of Missouri-Columbia
- Other
- Eligibility
- 0 Years to 99 Years
- Enrollment
- 50 participants
- Timeline
- 2024 – 2027
- U.S. locations
- 1
- States / cities
- Columbia, Missouri