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80 Results
Completed
Calcium Absorption in Patients With Rothmund-Thomson Syndrome
This is an evaluation of bone calcium deposition in patients with Rothmund-Thomson Syndrome (RTS). This study includes one study visit during which subjects will be admitted to the inpatient unit …
Baylor Role: Lead Sponsor
Completed
A Trial of Levodopa in Angelman Syndrome
Levodopa is a prodrug that "delivers" dopamine to the brain. It is usually given with carbidopa, a peripheral decarboxylase inhibitor, to increase the bioavailability of levodopa. Animal studies have suggested …
Baylor Role: Collaborator
Completed
Nitric Oxide Production in MELAS Syndrome
What does the study involve? Individuals with MELAS syndrome will be admitted twice to the General Clinical Research Center (GCRC) at Texas Children's Hospital. Each time they will stay for …
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
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
Unknown Status
The Cardiovascular Genetic and Therapeutic Implications of Muscular Dystrophy
Objective(s) and Hypothesis(es): The objectives to be evaluated are as follows: Specific Hypothesis #1: Heart disease, specifically dilated cardiomyopathy, can be identified early in patients with muscular dystrophy and allow …
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
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