Clinical trials: Galactosemia, active
Galactosemia
Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Newborn screening and a galactose-free diet have improved early outcomes in galactosemia, but long-term issues such as primary ovarian insufficiency (POI) remain significant.
- Trial name
- NCT07461519
- Where
- 19 sites in Italy
- Volunteers
- 60 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
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
Turner Syndrome, Post-menarcheal Adolescents
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
Background: Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child.
- Conditions
- Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia
- Trial name
- NCT04948658
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)