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About 460 results

ALLMedicine™ Methylmalonic Acidemia Center

Research & Reviews  169 results

Clinical and Laboratory Study of Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT00078078

Jun 24th, 2022 - Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer ...

A Study to Assess Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT04899310

Jun 22nd, 2022 - This study comprises 2 stages; a Dose Optimization Stage followed by an optional Dose Expansion Stage. The study is designed to evaluate multiple doses and dosing intervals of mRNA-3705. In both stages, after confirmation of eligibility, participa...

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type...
https://doi.org/10.1002/mgg3.1971
Molecular Genetics & Genomic Medicine; Agnarsdóttir D, Sigurjónsdóttir VK et. al.

Jun 18th, 2022 - Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder mutation: NM_052845...

An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
https://clinicaltrials.gov/ct2/show/NCT05040178

Jun 16th, 2022 - This study is being conducted to obtain short-term and long-term clinical safety information from adult and pediatric patients treated for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA). This is an observational/non...

Secondary acrodermatitis enteropathica-like skin findings in a case of methylmalonic ac...
https://doi.org/10.1111/pde.15051
Pediatric Dermatology; Chen Y, Li Z et. al.

Jun 12th, 2022 - Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder caused by decreased activity of methylmalonyl-CoA mutase or metabolic disturbance of its coenzyme cobalamin, cutaneous manifestations are rare clinical signs in this disease. ...

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Drugs  1 results see all →

Clinicaltrials.gov  13 results

Clinical and Laboratory Study of Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT00078078

Jun 24th, 2022 - Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer ...

A Study to Assess Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT04899310

Jun 22nd, 2022 - This study comprises 2 stages; a Dose Optimization Stage followed by an optional Dose Expansion Stage. The study is designed to evaluate multiple doses and dosing intervals of mRNA-3705. In both stages, after confirmation of eligibility, participa...

An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
https://clinicaltrials.gov/ct2/show/NCT05040178

Jun 16th, 2022 - This study is being conducted to obtain short-term and long-term clinical safety information from adult and pediatric patients treated for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA). This is an observational/non...

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

May 31st, 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...

A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT04836494

Apr 15th, 2022 - This is the first-in-human study with BBP-671 and is designed to provide healthy subjects single- and multiple-dose and patient multidose safety, tolerability, PK, and PD data regarding BBP-671 for future clinical studies.

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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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