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Phenylbutyrate Therapy for Maple Syrup Urine Disease (External Link)
Maple syrup urine disease is a severe inborn error of amino acid metabolism caused by deficiency of the mitochondrial branched-chain alpha-ketoacid dehydrogenase complex (BCKDC) resulting in the accumulation of branched-chain …
Active, Not Recruiting
Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita (External Link)
Dyskeratosis congenita (DC) is an inherited multisystem disorder, which classically presents with a clinical triad of skin pigment abnormalities, nail dystrophy, and oral leukoplakia. DC is part of a spectrum …
Baylor Role:
Collaborator
Active, Not Recruiting
Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome (External Link)
This study is one of three projects of an NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations in three different rare diseases. The focus of this …
Baylor Role:
Collaborator
Active, Not Recruiting
304-C03/L3301n: Effects of Growth Hormone on Glucose and Protein Metabolism in Children With Growth Hormone Deficiency (External Link)
Children with growth hormone deficiency (GHD) have increased insulin sensitivity and may present with hypoglycemia during infancy. Treatment with recombinant human growth hormone (rhGH) reduces the risk for hypoglycemia and …
Baylor Role:
Lead Sponsor
Active, Not Recruiting
Photorefractive Keratectomy for Severe Anisometropia and Isoametropia Associated With Amblyopia (External Link)
Anisometropia is a condition in which one eye has a significantly different refractive error from the other and commonly leads to the development of refractive amblyopia in the affected eye. …
Baylor Role:
Lead Sponsor