Status:
TERMINATED
Ataluren for Nonsense Mutation Methylmalonic Acidemia
Lead Sponsor:
PTC Therapeutics
Collaborating Sponsors:
Genzyme, a Sanofi Company
Conditions:
Amino Acid Metabolism, Inborn Errors
Eligibility:
All Genders
2+ years
Phase:
PHASE2
Brief 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). L...
Detailed Description
In this study, participants with MMA due to a nonsense mutation will be administered an investigational drug called ataluren. Evaluation procedures to determine if a participant qualifies for the stud...
Eligibility Criteria
Inclusion
- Major
- Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if applicable)
- Age ≥2 years
- Phenotypic evidence of methylmalonic acidemia (MMA) based on the presence of characteristic clinical symptoms or signs and an elevated plasma MMacid level (\>0.27 micromole/liter (umol/L)
- Presence of a nonsense mutation in at least 1 allele of the mutase (mut), Cobalamin A (cblA), or Cobalamin B (cblB) gene
- Glomerular filtration rate ≥30 milliliters (mL)/minutes/1.73 meters squared (m\^2), serum aminotransferase values ≤2.5\*the upper limit of normal, serum bilirubin ≤1.5\*the upper limit of normal, plasma adrenocorticotropic (ACTH) within normal limits
- Willingness and ability to comply with scheduled visits, drug administration plan, study restrictions, and study procedures
- Major
Exclusion
- Known hypersensitivity to any of the ingredients or excipients of the study drug
- Any change in chronic treatment for MMA within 2 months prior to start of screening laboratory assessments
- Episode of metabolic decompensation within 1 month prior to start of Screening laboratory assessments
- History of organ transplantation
- Ongoing dialysis for renal dysfunction
Key Trial Info
Start Date :
July 19 2010
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
November 3 2011
Estimated Enrollment :
11 Patients enrolled
Trial Details
Trial ID
NCT01141075
Start Date
July 19 2010
End Date
November 3 2011
Last Update
July 7 2020
Active Locations (9)
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1
ZNA Queen Paola Child Hospital and Provincial Centre for Metabolic Disorders
Antwerp, Belgium
2
Hôpital Edouard Herriot
Lyon, France
3
Necker-Enfants Malades Hospital
Paris, France
4
University Children's Hospital
Düsseldorf, Germany