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Ataluren for Nonsense Mutation Methylmalonic Acidemia

NCT01141075 · Status: TERMINATED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 11

Last updated 2020-07-07

Study results available
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Summary

Methylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl). Lack of these proteins causes toxic elevations of methylmalonic acid (MMacid) in blood, urine, and other tissues. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of the disease in approximately 5% to 20% of participants with mutations in the MCM gene, and approximately 20% to \>50% of participants with mutations in one of the AdoCbl genes. Ataluren is an orally delivered, investigational drug that acts to overcome the effects of the premature stop codon, potentially enabling the production of functional MCM/AdoCbl. This study is a Phase 2a trial evaluating the safety and activity of ataluren in participants with MMA due to a nonsense mutation. The main purpose of this study is to understand whether ataluren can safely decrease MMacid levels.

Conditions

  • Amino Acid Metabolism, Inborn Errors

Interventions

DRUG

Ataluren

Ataluren will be provided as a vanilla-flavored powder to be mixed with water.

Sponsors & Collaborators

  • Genzyme, a Sanofi Company

    collaborator INDUSTRY

  • PTC Therapeutics

    lead INDUSTRY

Principal Investigators

  • Jay Barth, MD · PTC Therapeutics

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
2 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-07-19
Primary Completion
2011-11-03
Completion
2011-11-03

Countries

  • Belgium
  • France
  • Germany
  • Italy
  • Switzerland
  • United Kingdom

Study Locations

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Entities

Drugs
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01141075 on ClinicalTrials.gov