Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
- Status
- ENROLLING_BY_INVITATION
- Phase
- PHASE1/PHASE2
Clinical Trials Related to Genetic Disease
Related studies linked through entity extraction aliases.
Fluoxetine in KCNC1-related Disorder
- Status
- COMPLETED
- Phase
- NA
Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A
- Status
- ACTIVE_NOT_RECRUITING
- Phase
- PHASE1/PHASE2
An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing
- Status
- RECRUITING
- Phase
- NA
Transcranial Magnetic Stimulation (TMS) in Genetic Epilepsies
- Status
- RECRUITING
- Phase
- NA
Newborn Genomic Sequencing Pilot Study
- Status
- COMPLETED
- Phase
- NA
A Comparative Analysis of Speech Perception Between Cochlear Implant Patients and DFNB9 Patients Receiving Gene Therapy
- Status
- RECRUITING
- Phase
- N/A
Penn Medicine Biobank Return of Results Program
- Status
- ENROLLING_BY_INVITATION
- Phase
- NA
Rehabilitation Program on Genetic and Degenerative Ataxia
- Status
- NOT_YET_RECRUITING
- Phase
- NA
Newborn Genomics Programme
- Status
- RECRUITING
- Phase
- N/A
Structural Chromosome Rearrangements and Brain Disorders
- Status
- ENROLLING_BY_INVITATION
- Phase
- N/A
Prospective Cohort Study of Neurogenetic Diseases
- Status
- RECRUITING
- Phase
- NA
Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic Testing
- Status
- RECRUITING
- Phase
- NA
Pre-implantation Genetic Testing for Monogenic Disease: Single Center Experience
- Status
- COMPLETED
- Phase
- N/A
Contribution of Oncogenetics in Breast Cancer in Reunion Epidemiology of Breast Cancer in Reunion: Study of the Reunion Mutation on BRCA2
- Status
- RECRUITING
- Phase
- NA
Natural History Study of Patients with HPDL Mutations
- Status
- RECRUITING
- Phase
- N/A
Genetic Disorders of Obesity Program Database
- Status
- RECRUITING
- Phase
- N/A
Fetal Cell Analysis From Maternal Blood
- Status
- UNKNOWN
- Phase
- NA
Modified Delphi for Genomic Bereavement Care
- Status
- COMPLETED
- Phase
- N/A
Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles
- Status
- COMPLETED
- Phase
- N/A