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Amino Acid Metabolism, Inborn Errors
Clinical trial pipeline · Data from ClinicalTrials.gov
See which Amino Acid Metabolism, Inborn Errors trials you may qualify forClinical trial pipeline · Data from ClinicalTrials.gov
See which Amino Acid Metabolism, Inborn Errors trials you may qualify forThe purpose of this study is to measure efficacy and safety of pegtibatinase treatment compared with placebo in participants with classical HCU receiving standa…
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recu…
The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about…
Arginase 1 deficiency (ARG1-D) is a rare condition in which the body cannot properly break down a substance called arginine. This leads to high levels of argini…
The purpose of this study is to assess the drug-drug interaction (DDI) of repinatrabit with ethinyl estradiol/norethindrone or norethisterone (EE/NE), metformin…
The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment…
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinic…
The goal of Parts A and B of this Phase 1/2, first-in-human, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of single (SAD) a…
This project will examine the dysregulation of the urea cycle in patients with terminal uremia using a validated method named "Functional Hepatic Nitrogen Clear…