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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
Erythropoetin Neuroprotection for Neonatal Cardiac Surgery
Hypothesis: Erythropoetin (EPO) will protect the neonatal brain in the perioperative period for congenital heart surgery. Using a prospective, randomized, placebo-controlled, double-blinded design, the specific aims of this study are: …
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
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
Corticosteroids in Postoperative Critically Ill Neonates With Low Cardiac Output Syndrome With Congenital Heart Disease
The study will be prospective. Patients who meet entry criteria will be randomized to receive corticosteroids versus placebo. Randomization will take into account biventricular versus univentricular repairs/palliations and whether the …
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
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 the Nutritional, Metabolic, and Body Composition Profile in Children and Adolescents With Epidermolysis Bullosa
PROTOCOL OUTLINE: Data collected from a 5-day food diary are analyzed for protein, nutrient, and calorie intake. Nutritional, metabolic, and body composition are evaluated by indirect calorimetry, total body electrical …
Baylor Role: Collaborator
Completed
Phase II Randomized Study of Leuprolide Vs Oral Contraceptive Therapy Vs Leuprolide and Oral Contraceptive Therapy for Ovarian Hyperandrogenism
PROTOCOL OUTLINE: This is a randomized study. Patients are randomly assigned to a 6-month course of leuprolide versus ethinyl estradiol/norethindrone (Ovcon 35) versus leuprolide plus Ovcon 35. Leuprolide is administered …
Baylor Role: Collaborator