Trial record 5 of 5017 for:    "Genetic Diseases, Inborn" [DISEASE]

Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy

This study is enrolling participants by invitation only.
Sponsor:
Information provided by (Responsible Party):
PTC Therapeutics
ClinicalTrials.gov Identifier:
NCT02090959
First received: March 17, 2014
Last updated: NA
Last verified: March 2014
History: No changes posted
  Purpose

Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 extension study is to obtain long term safety of ataluren in boys with nonsense mutation dystrophinopathy as determined by adverse events and laboratory abnormalities. The study will also assess changes in physical function, pulmonary function and other important clinical and laboratory measures.


Condition Intervention Phase
Muscular Dystrophy, Duchenne
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Drug: Ataluren
Phase 3

Study Type: Interventional
Study Design: Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy

Resource links provided by NLM:


Further study details as provided by PTC Therapeutics:

Primary Outcome Measures:
  • Long term safety of ataluren in boys with nonsense mutation dystrophinopathy, as determined by adverse events and laboratory abnormalities [ Time Frame: Baseline and 96 weeks ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:
  • Physical Function [ Time Frame: Baseline and 96 weeks ] [ Designated as safety issue: No ]
    North Star Ambulatory Assessment,Timed Function Testing, Upper Limb Function, 6 Minute Walk Test

  • Patient and/or parent-reported activities of daily living and disease symptoms [ Time Frame: Baseline and 96 weeks ] [ Designated as safety issue: No ]
  • Quality of Life [ Time Frame: Baseline and 96 weeks ] [ Designated as safety issue: No ]
  • Pulmonary function [ Time Frame: Baseline and 96 weeks ] [ Designated as safety issue: No ]
  • Ataluren blood levels [ Time Frame: Baseline and 96 weeks ] [ Designated as safety issue: No ]

Estimated Enrollment: 220
Study Start Date: March 2014
Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Ataluren
10, 10, 20 mg/kg
Drug: Ataluren
Other Name: PTC124

Detailed Description:

This Phase 3, open label safety and efficacy study will be performed at participating sites worldwide. The study will enroll ~ 220 boys with nonsense mutation dystrophinopathy who participated in a previous Phase 3 study of ataluren (Protocol # PTC124-GD-020-DMD). Patients will receive 10, 10, 20 mg/kg of ataluren TID at morning, midday, and evening for approximately 96 weeks. Study assessments will be performed at clinic visits every 12 weeks.

  Eligibility

Ages Eligible for Study:   7 Years to 18 Years
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Completion of study treatment in the previous Phase 3, double-blind study protocol (Protocol PTC124-GD-020-DMD).
  • Evidence of signed and dated informed consent/assent document(s) indicating that the patient (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial.
  • Willingness to abstain from sexual intercourse or employ an approved method of contraception during the period of study drug administration and 6-week follow-up period.
  • Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions.

Exclusion Criteria:

  • Known hypersensitivity to any of the ingredients or excipients of the study drug
  • Ongoing participation in any clinical trial (except for studies specifically approved by PTC Therapeutics).
  • Prior or ongoing medical condition (eg, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02090959

  Show 53 Study Locations
Sponsors and Collaborators
PTC Therapeutics
Investigators
Study Director: Robert Spiegel, M.D. PTC Therapeutics
  More Information

Additional Information:
No publications provided

Responsible Party: PTC Therapeutics
ClinicalTrials.gov Identifier: NCT02090959     History of Changes
Other Study ID Numbers: PTC124-GD-020e-DMD
Study First Received: March 17, 2014
Last Updated: March 17, 2014
Health Authority: United States: Food and Drug Administration

Keywords provided by PTC Therapeutics:
Duchenne muscular dystrophy
Dystrophinopathy
Nonsense mutation
Premature stop codon
Becker muscular dystrophy
DMD/BMD
PTC124
Ataluren

Additional relevant MeSH terms:
Genetic Diseases, Inborn
Muscular Dystrophy, Duchenne
Muscular Diseases
Muscular Dystrophies
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases
Atrophy
Muscular Disorders, Atrophic
Genetic Diseases, X-Linked
Pathological Conditions, Anatomical

ClinicalTrials.gov processed this record on August 18, 2014