Clinical trials: GNAO1, open to volunteers
TOR1A, PANK2
Deep Brain Stimulation (DBS) MatchMaker
DBS Matchmaker (https://www.dbsmatchmaker.com) is a platform designed to connect clinicians worldwide who are treating rare movement disorders with deep brain stimulation (DBS).
- Conditions
- TOR1A, PANK2, HPRT1, EIF2AK2
- Trial name
- DBSMatchMaker (NCT06912841)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Boston Children's Hospital
GNAO1, Epilepsy
Tianasen (ASO-GNAO1) for GNAO1-Encephalopathy With Epilepsy and Movement Disorders.
The goal of this clinical trial is to evaluate the efficacy and safety of the investigational drug ASO-GNAO1 (Tianasen) in pediatric patients with c.607G>A mutation in the GNAO1 gene associated with epilepsy and…
- Conditions
- GNAO1, Epilepsy, Hyperkinesis
- Trial name
- ASO-GNAO1 (NCT07363603)
- Testing
- Antisense oligonucleotide treatment (ASO)
- Where
- Russia
- Volunteers
- 5 people
- Sponsor
- Pirogov Russian National Research Medical University
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
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