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About 268 results

ALLMedicine™ Propionic Acidemia Center

Research & Reviews  102 results

Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
https://clinicaltrials.gov/ct2/show/NCT02890342

May 13th, 2022 - Propionic acidemia (PA) is one of the most common inborn errors of organic acid metabolism. Although this disorder is now routinely detected in the immediate neonatal period on the US newborn screen, clinical outcomes are poor despite timely and a...

Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT04732429

May 11th, 2022 - This is an interventional study to assess the safety, PK, and efficacy of HST5040 in 12 subjects - 6 with Methylmalonic Acidemia (MMA) and 6 with Propionic Acidemia (PA). The study consists of 3 parts: Part A: Open-label, within-subject, dose esca...

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients wi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8944130
Orphanet Journal of Rare Diseases; Liu Y, Chen Z et. al.

Mar 26th, 2022 - Propionic acidemia is a severe inherited metabolic disorder, caused by the deficiency of propionyl-CoA carboxylase which encoded by the PCCA and PCCB genes. The aim of the study was to investigate the clinical features and outcomes, molecular epid...

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic aci...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8925091
BMC Medical Genomics; Li Y, Wang M et. al.

Mar 18th, 2022 - Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by mutations in the PCCA or PCCB gene, leading to propionyl CoA carboxylase (PCC) enzyme deficiencies. Most PA patients present variable clinical phenotypes and se...

Therapeutic potential of living donor liver transplantation from heterozygous carrier d...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862340
Orphanet Journal of Rare Diseases; Zeng ZG, Zhou GP et. al.

Feb 23rd, 2022 - Current world experience regarding living donor liver transplantation (LDLT) in the treatment of propionic acidemia (PA) is limited, especially in terms of using obligate heterozygous carriers as donors. This study aimed to evaluate the clinical o...

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Drugs  1 results see all →

Clinicaltrials.gov  3 results

Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
https://clinicaltrials.gov/ct2/show/NCT02890342

May 13th, 2022 - Propionic acidemia (PA) is one of the most common inborn errors of organic acid metabolism. Although this disorder is now routinely detected in the immediate neonatal period on the US newborn screen, clinical outcomes are poor despite timely and a...

Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT04732429

May 11th, 2022 - This is an interventional study to assess the safety, PK, and efficacy of HST5040 in 12 subjects - 6 with Methylmalonic Acidemia (MMA) and 6 with Propionic Acidemia (PA). The study consists of 3 parts: Part A: Open-label, within-subject, dose esca...

Review of Charts From Amish/Mennonite Variant PA Patients
https://clinicaltrials.gov/ct2/show/NCT03159026

Dec 10th, 2021 - The study is designed to provide a comprehensive description of the clinical and biochemical features of propionic academia, Amish/Mennonite variant (PA-AMV). From these data, the investigators hope to identify biomarkers for assessment of clinica...

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News  1 results

Table of Surrogate Endpoints That Were the Basis of Drug Approval or Licensure
http://www.fda.gov/drugs/development-resources/table-surrogate-endpoints-were-basis-drug-approval-or-licensure

What is the purpose of the Surrogate Endpoint Table? FDA’s surrogate endpoint table provides valuable information for drug developers on endpoints that may be considered and discussed with FDA for individual development programs. This table also f...

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