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Completed
Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
The cause of liver damage in people with ASA is unknown. However, because ASA is the only urea cycle disorder that is characterized by both liver damage and elevated levels …
Completed
Perceived Lactose Intolerance
The goal of this study was to examine the effects of self-perceived lactose intolerance (SPLI) as it relates to calcium intake and specific health problems that have been attributed to …
Baylor Role: Lead Sponsor
Completed
Research Study for Children With Salt Wasting Congenital Adrenal Hyperplasia
The adrenal gland is a small organ of the body. It produces very important chemicals called hormones. One of these hormones, cortisol (the stress hormone) helps the body fight diseases. …
Baylor Role: Lead Sponsor
Completed
Dietary Supplements for the Treatment of Angelman Syndrome
AS is a neurologic disorder that may cause developmental delay, mental retardation, severe speech impairment, seizures, small head size, and problems with movement and balance in young children. AS is …
Baylor Role: Collaborator
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
Completed
Characterization of Angelman Syndrome
AS is a developmental disorder that affects movement, speech, and social demeanor. The disorder is caused by a deficiency of a maternally transmitted gene and is inherited at birth. Children …
Baylor Role: Collaborator
Completed
An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome.
In order to enroll in this study, you must have completed the Double-Blind phase of CAPSS-176 or discontinued the Double-Blind phase of CAPSS-176 after a minimum of 6 weeks because …
Baylor Role: Lead Sponsor
Completed
A Randomized, Placebo-controlled, Tourette Syndrome Study.
This study consists of three phases: Screening/Washout Phase, Double-Blind Phase and Taper Phase. SCREENING/WASHOUT PHASE: Your study doctor or his staff will review with you any medications that you are …
Baylor Role: Lead Sponsor
Completed
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
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
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