Clinical trials: Brain; Agenesis
Neural Tube Defects
Genetics of Neural Tube Defects
The Genetics of Neural Tube Defects Study at the University of Miami: The University of Miami John P. Hussman Institute for Human Genomics is looking for families to participate in research to identify the genetic and…
- Trial name
- NTD (NCT01253746)
- Where
- United States
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- John P. Hussman Institute for Human Genomics
Holoprosencephaly
A Study of the Genetic Analysis of Brain Disorders
A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencephaly (HPE).
- Trial name
- NCT00645645
- Where
- United States
- Volunteers
- 5,735 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Spina Bifida, Anencephaly
Study of Genetic Risk Factors for Spina Bifida and Anencephaly
The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida (SB) and anencephaly (A), which includes identifying patients, defining the roles of certain genes, and studying…
- Trial name
- SBRR (NCT00031122)
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International