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16 Results
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
Completed
A Safety Study of NNZ-2566 in Patients With Rett Syndrome
Rett Syndrome is a developmental disorder primarily if not exclusively affecting females. The disorder is characterized by apparent normal development in early infancy (6-18 months), followed by a period of …
Baylor Role: Collaborator
Active, Not Recruiting
Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
Dyskeratosis congenita (DC) is an inherited multisystem disorder, which classically presents with a clinical triad of skin pigment abnormalities, nail dystrophy, and oral leukoplakia. DC is part of a spectrum …
Baylor Role: Collaborator
Completed
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
Subjects with AS, RTT or PWS and normal siblings (controls) will be recruited for study participation. Subjects will be recruited from the Rare Disease Clinical Research Network (RDCRN) consortium registries …
Baylor Role: Lead Sponsor
Completed
The Role of Dietary Calcium for the Treatment of Osteopenia in Girls With Rett Syndrome
Objective: The investigators conducted a randomized, double-blind, placebo-controlled trial to determine the safety and efficacy of oral calcium supplementation for the treatment of bone mineral deficits in individuals with Rett …
Baylor Role: Lead Sponsor
Active, Not Recruiting
Study of Selected X-linked Disorders: Goltz Syndrome
Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an X-linked dominant neurodevelopmental disorder. The primary features of FDH include areas of hypoplastic skin (atrophy, linear pigmentation and herniation of fat …
Baylor Role: Lead Sponsor