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Inborn Errors of Metabolism
Clinical trial pipeline · Data from ClinicalTrials.gov
See which Inborn Errors of Metabolism trials you may qualify forClinical trial pipeline · Data from ClinicalTrials.gov
See which Inborn Errors of Metabolism 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…
The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data…
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…
This open-label study aims to gather long-term safety, tolerability, PK, biomarker, and clinical efficacy data relating to daily administration of Nizubaglustat…
Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help…
Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease l…
The purpose of this study is to evaluate the safety and efficacy of multiple doses of PLX-200 in patients with CLN3 disease.
This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry dis…