Clinical trials: CACNA1A
Epilepsy-Dyskinesia, Epilepsy
Registry and Natural History of Epilepsy-Dyskinesia Syndromes
The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who…
- Conditions
- Epilepsy-Dyskinesia, Epilepsy, Dyskinesia, EDS
- Trial name
- NCT06967727
- Where
- United States
- Volunteers
- 700 people
- Sponsor
- Boston Children's Hospital
CACNA1A, Spinocerebellar Ataxia Type 6
Pivotal Study of N-acetyl-L-leucine for CACNA1A
A pivotal, randomized, double-blind, placebo-controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of CACNA1A.
- Conditions
- CACNA1A, Spinocerebellar Ataxia Type 6, Episodic Ataxia Type 2, Familial Hemiplegic Migraine-1
- Trial name
- NCT07221292
- Testing
- N-Acetyl-L-Leucine
- Where
- 11 sites in United States, Austria and 5 more
- Volunteers
- 60 people
- Sponsor
- IntraBio Inc
Epilepsy in Children, Dyskinesias
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy.
- Conditions
- Epilepsy in Children, Dyskinesias, Movement Disorders in Children, Neurologic Disorder
- Trial name
- NCT06585605
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Boston Children's Hospital