Clinical trials: STXBP1 Encephalopathy with Epilepsy, active
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
STXBP1 Encephalopathy With Epilepsy
A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disorders
STXBP1-related disorders (STXBP1-RD) are rare genetic neurodevelopmental disorders, caused by pathogenic variants in the gene STXBP1.
- Trial name
- ESCO (NCT06625112)
- Where
- Belgium
- Volunteers
- 120 people
- Sponsor
- European STXBP1 Consortium
STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder, Developmental and Epileptic Encephalopathy
Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
This study is to evaluate the use of glycerol phenylbutyrate for monogenetic developmental epileptic encephalopathies (DEEs). DEEs are characterized by epilepsy and developmental delay in early life.
- Trial name
- NCT04937062
- Testing
- Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- Weill Medical College of Cornell University
Genetic Disease, STXBP1 Encephalopathy With Epilepsy
STXBP1 and SYNGAP1 Related Disorders Natural History Study
The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials.
- Conditions
- Genetic Disease, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability
- Trial name
- NCT06555965
- Testing
- Non-interventional study
- Where
- 5 sites in United States
- Volunteers
- 600 people
- Sponsor
- Children's Hospital of Philadelphia
STXBP1 Encephalopathy With Epilepsy
Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy
This is a prospective observational study to evaluate the phenotype of 10 patients under 10 years of age with developmental epileptic encephalopathy due to mutation of the STXBP1 gene.
- Trial name
- FIMBEX (NCT06356233)
- Testing
- No intervention will be performed
- Where
- Spain
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Fundación Iniciativa para las Neurociencias (FINCE)