Status | Study |
Recruiting |
Study Name: Rare Diseases Clinical Research Network: Neurophysiological Correlates Condition: Rett Syndrome, Preserved Speech Variant Mecp2 Duplication Syndrome Date: 2017-03-01 Interventions: Procedure: Auditory and Visual Event-related Potentials and EEG Specifically, through up to three standa |
Recruiting |
Study Name: Durvalumab in Combination With Tremelimumab in Subjects With Advanced Rare Solid Tumors Condition: Cancer Rare Disease Date: 2016-10-10 Interventions: Drug: Durvalumab intravenous a |
Recruiting |
Study Name: Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Condition: Small Fiber Neuropathy Fabry Disease Ehlers Danlos Syndrom Date: 2016-09-12 Interventions: Device: Sudoscan The Sudoscan |
Completed |
Study Name: Evaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput Sequencing Technology for Diagnostic Purposes Condition: Rare Diseases Date: 2016-06-16 Interventions: Other: quantitive study: 500 patients likely to be candidates for HTS |
Completed |
Study Name: Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2 Condition: Osteogenesis Imperfecta Brittle Bone Disorders Date: 2016-05-26 Interventions: Other: Web-based Survey This study will occur online. Participants will be asked to complete multiple su |
Completed |
Study Name: Validation of the Utility of Rare Disease Intelligence Platform Condition: Cataract Artificial Intelligence Date: 2016-04-13 Interventions: Device: CC-Cruiser An artificial intelligence to make comprehensive evaluation and treatment decision of |
Recruiting |
Study Name: Motherhood With MOtor Impairment Due to MAlady (Rare Disease) Condition: Disability Evaluation Child of Impaired Parents Date: 2016-03-29 |
Active, not recruiting |
Study Name: Finding Genes for Rare Diseases Condition: Rare Diseases Date: 2016-02-10 |
Recruiting |
Study Name: Gene Discovery Core, The Manton Center Condition: Undiagnosed Conditions Rare Disorders Date: 2016-01-04 |
Recruiting |
Study Name: Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases Condition: Movement Disorder Cognitive Decline Date: 2015-10-15 |