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44 Results

Completed
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes (External Link)
PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal …
Baylor Role: Collaborator
Completed
Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome (External Link)
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 (External Link)
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
Completed
Phase II Study of the Effect of Leuprolide Acetate and Spironolactone on Insulin Resistance in Hyperandrogenic Women With Polycystic Ovarian Disease or Hyperandrogenism Insulin Resistance Acanthosis Nigricans Syndrome (External Link)
PROTOCOL OUTLINE: Participants are treated with subcutaneous leuprolide acetate followed by oral spironolactone. Each treatment is administered daily for 6 weeks, with a 6-week washout between drugs. Patients and controls …
Baylor Role: Collaborator