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16 Results
Completed
Genetic and Physical Characteristics of Rett Syndrome
RTT is a brain disorder that causes problems with childhood development. It is usually caused by an abnormality (mutation) in the gene MECP2. RTT can cause severe impairments in movement …
Baylor Role: Collaborator
Active, Not Recruiting
Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease
In order to transplant stem cells we will need to give the patient drugs or high-dose chemotherapy to kill or destroy most of the blood forming and immune cells in …
Baylor Role: Lead Sponsor
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
Unknown Status
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
PROTOCOL OUTLINE: This protocol involves 2 clinical studies. Part A is a metabolic study of glutamine conversion to urea at different levels of protein intake, while on and off medications. …
Baylor Role: Collaborator
Completed
Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
PROTOCOL OUTLINE: Patients receive an electrocardiogram at baseline and every 6 months for 3 years. Clinical stage II patients undergo 24-hour Holter monitoring on the same schedule; age-matched controls are …
Baylor Role: Collaborator
Completed
Nutritional Aspects of Rett Syndrome
PROTOCOL OUTLINE: All participants undergo extensive nutritional and metabolic assessment with body composition evaluation. Studies include macronutrient intake, body fat, lean muscle mass, metabolic rate, and time-action studies; and 24-hour …
Baylor Role: Collaborator