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18 Results
Recruiting
Hepatic Histopathology in Urea Cycle Disorders
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this …
Baylor Role: Lead Sponsor
Recruiting
Liver Disease in Urea Cycle Disorders
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this …
Baylor Role: Lead Sponsor
Recruiting
L-Citrulline Dose Finding Safety Study in MELAS
The human body is made of many cells and each cell contains many mitochondria. Mitochondria are called the powerhouses of the cell, because they produce the energy needed for a …
Baylor Role: Lead Sponsor
Recruiting
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and …
Baylor Role: Collaborator
Completed
Chronic Liver Disease in Urea Cycle Disorders
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism.With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this improved …
Baylor Role: Lead Sponsor
Completed
Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD
Argininosuccinate lyase deficiency (ASLD; also known as argininosuccinic aciduria) is the second most common urea cycle disorder (UCD) and accounts for 15-20% of all disorders of ureagenesis. Individuals with ASLD …
Baylor Role: Lead Sponsor
Recruiting
Investigation of the Genetics of Hematologic Diseases
Participants will be individuals (proband) receiving therapy or expert consultation regarding a non-malignant hematologic disorder. We propose to use genomics, transcriptomics, proteomics and metabolomic analysis coupled with family linkage studies …
Baylor Role: Collaborator
Completed
Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
The investigators will study and compare how effectively sodium phenylbutyrate, sodium benzoate, and a combination of the two, help excrete nitrogen in healthy volunteers. Subject participation will require three, separate, …
Baylor Role: Lead Sponsor
Completed
Nitric Oxide Supplementation in Argininosuccinic Aciduria
The investigators will perform a double blind, randomized, placebo-controlled, crossover study of NO supplementation in ASA patients assessing endothelial function and blood pressure as primary endpoints, and markers of nitric …
Baylor Role: Lead Sponsor
Active, Not Recruiting
Phenylbutyrate Therapy for Maple Syrup Urine Disease
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 …