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Recruiting
Rett Syndrome Registry
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence …
Baylor Role: Collaborator
Recruiting
Hepatic Histopathology in Urea Cycle Disorders
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this …
Baylor Role: Lead Sponsor
Recruiting
The Rett Syndrome Global Registry
The Rett Syndrome Global Registry is a fully remote, global, caregiver-reported registry intended to meet the needs of caregivers, clinicians and researchers, and therapeutic developers with the goal to increase …
Baylor Role: Collaborator
Recruiting
Liver Disease in Urea Cycle Disorders
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this …
Baylor Role: Lead Sponsor
Recruiting
Investigation of the Genetics of Hematologic Diseases
Participants will be individuals (proband) receiving therapy or expert consultation regarding a non-malignant hematologic disorder. We propose to use genomics, transcriptomics, proteomics and metabolomic analysis coupled with family linkage studies …
Baylor Role: Collaborator
Recruiting
Study of Selected X-Linked Disorders: Aicardi Syndrome
Aicardi syndrome is a sporadic X-linked dominant, presumably male-lethal, neurodevelopmental disorder. It was initially characterized by agenesis of the corpus callosum, neuronal migration defects, eye abnormalities (chorioretinal lacunae, colobomas of …
Baylor Role: Lead Sponsor