Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy

• Register: ClinicalTrials.gov
• Last refreshed on: 19 February 2015
• Main ID: NCT00264888
• Date of registration: 09/12/2005
• Prospective Registration: No
• Primary sponsor: PTC Therapeutics
• Public title: Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy
• Scientific title: A Phase 2 Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy
• Date of first enrolment: December 2005
• Target sample size: 38
• Recruitment status: Completed
• URL: http://clinicaltrials.gov/show/NCT00264888
• Study type: Interventional
• Study design: Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
• Phase: Phase 2

Countries of recruitment

United States

Contacts

• Name: Richard Finkel, MD
• Affiliation: Children's Hospital of Philadelphia

Key inclusion & exclusion criteria

Inclusion Criteria:

- Diagnosis of DMD based on a clinical phenotype presenting by age 5, with increased
serum CK and decrease of dystrophin on a muscle biopsy

- Presence of a nonsense mutation in the dystrophin gene

- Physical examination or radiographic imaging documenting the presence of EDB or TA
muscles in both legs

- Ability to ambulate, or if non-ambulatory, then not requiring ventilator support

- Male sex

- Age = 5 years

- Willingness to abstain from sexual intercourse or employ a barrier or medical method
of contraception during the study drug administration and follow-up periods in
subjects known to be sexually active

- Willingness and ability to comply with scheduled visits, drug administration plan,
laboratory tests, study restrictions, and study procedures (including muscle
biopsies, myometry, and PK sampling)

- Ability to provide written informed consent (parental/guardian consent if
applicable)/assent (if <18 years of age)

Exclusion Criteria:

- Prior or ongoing medical condition (e.g., concomitant illness, psychiatric condition,
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

- Clinical symptoms and signs of congestive cardiac failure

- Positive hepatitis B surface antigen, hepatitis C antibody test, or human
immunodeficiency virus (HIV) test

- Hemoglobin <10 g/dL

- Serum albumin <2.5 g/dL

- Abnormal GGT or total bilirubin (>laboratory's upper limit of normal)

- Abnormal renal function (serum creatinine >1.5 times laboratory's upper limit of
normal)

- History of solid organ or hematological transplantation

- Ongoing immunosuppressive therapy (other than corticosteroids)

- Exposure to another investigational drug within 28 days prior to start of study
treatment

- Ongoing participation in any other therapeutic clinical trial

- Ongoing use of thiazolidinedione peroxisome proliferator-activated receptor gamma
(PPAR ?) agonists, e.g., rosiglitazone (Avandia® or equivalent) or pioglitazone
(Actos® or equivalent)

- Change in systemic corticosteroid therapy (e.g., initiation of treatment; cessation
of treatment; change in dose, schedule, or type of steroid) within 3 months prior to
start of study treatment.

- Treatment with systemic aminoglycoside antibiotics within 4 weeks prior to start of
study treatment



Age minimum: 5 Years
Age maximum: N/A
Gender: Male

Health Condition(s) or Problem(s) studied

Duchenne Muscular Dystrophy

Intervention(s)

Drug: PTC124

Primary Outcome(s)

Dystrophin expression as assessed by immunofluorescence evaluation of tissue obtained by biopsy of the extensor digitorum brevis (EDB) muscle of the foot or tibialis anterior (TA) muscle of the leg

Secondary Outcome(s)

Presence of dystrophin mRNA and dystrophin-related proteins on EDB or TA muscle biopsy, muscle function, compliance with treatment, safety and PTC124 pharmacokinetics

Secondary ID(s)

PTC124-GD-004-DMD

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Muscular Dystrophy Association