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Duchenne Muscular DystrophyPhase 2NCT00264888

Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy

A Phase 2 study testing PTC124 in people with Duchenne Muscular Dystrophy, run by PTC Therapeutics at 3 sites in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein. PTC124 has been shown to partially restore dystrophin production in animals with DMD due to a nonsense mutation. Read more about this study

Who is it for?
Ages 5 years and older, men only
Conditions the study is for
Duchenne Muscular Dystrophy
What is being tested?
PTC124
How many people
38 participants
Where
3 sitesUnited States
Study dates
Dec 2005to May 2007
Phase
Phase 2
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 5 years and older
  • Men only
  • No healthy volunteers
  • Child, Adult, Older adult

Who may be able to join

  • 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
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  • 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)

Who cannot join

  • 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)
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  • 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 γ) 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

Trial locations and contacts

3 sites in 1 country.

United States3 sites

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohio, 45229-3039

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104-4399

  • University of Utah

    Salt Lake City, Utah, 84112

Other trials in United States

About this study

Official title: A Phase 2 Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy

In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein. PTC124 has been shown to partially restore dystrophin production in animals with DMD due to a nonsense mutation. The main purpose of this study is to understand whether PTC124 can safely increase functional dystrophin protein in the muscles of patients with DMD due to a nonsense mutation.

Read the detailed description

In this study, patients with DMD due to a nonsense mutation will be treated with a new investigational drug called PTC124. To determine if a patient qualifies for the study evaluation procedures will be performed within 21 days prior to the start of treatment; these procedures include: history, physical examination, blood and urine tests to assess organ function, electrocardiogram (ECG), muscle biopsy for evaluation of dystrophin protein, and DMD-specific tests of muscle function (for patients who are able to perform such tests). Eligible patients who elect to enroll in the study will then participate in a 28-day treatment period and a 28-day follow-up period (56 days total). The first 6 patients to be enrolled will take PTC124 treatment 3 times per day with meals for 28 days at doses of 4 mg/kg (breakfast), 4 mg/kg (lunch) and 8 mg/kg (dinner); these patients will then be observed during a 28-day follow-up period without treatment. Next, 18 additional patients will be enrolled to take PTC124 treatment 3 times per day with meals for 28 days at doses of 10 mg/kg (breakfast), 10 mg/kg (lunch), and 20 mg/kg (dinner); these patients will then be observed during a 28-day follow-up period without treatment. Subsequently, 6-12 additional patients will be enrolled to take PTC124 treatment 3 times per day with meals for 28 days at doses of 20 mg/kg (breakfast), 20 mg/kg (lunch), and 40 mg/kg (dinner); these patients will then be observed during a 28-day follow-up period without treatment. There will be a 2-night stay at the clinical research center at the beginning and at the end of the 28 days of PTC124 treatment. To assess efficacy, patients will have an end-of-treatment biopsy and will undergo DMD-specific tests of muscle function (for patients who are able to perform such tests). To assess safety and pharmacokinetics, safety assessments, blood and urine tests, and ECGs will be performed at prespecified timepoints during the 28-day treatment period and the 28-day follow-up period. At the end of the 56 days, patients will be assessed periodically regarding their general health status; these evaluations will be performed by telephone contact at approximately 6-month intervals in the first 2 years and at approximately 12-month intervals in subsequent years (up to 5 years total).

Being tested
PTC124
Keywords
Duchenne muscular dystrophy, Nonsense mutation, Premature stop codon
Medical subject headings
Muscular Dystrophy, Duchenne

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • PTC124Drug

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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 outcomes (1)

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

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted13 Dec 2005 (estimated)
  2. Study startDec 2005
  3. Primary completionMay 2007
  4. Study completionMay 2007

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase 2
Primary purpose
Treatment
Allocation
Non-randomised
Intervention model
Single group
Masking
None (open label)
Enrolment
38 participants
IDs, dates and publications
ClinicalTrials.gov ID
NCT00264888
Sponsor's protocol ID
PTC124-GD-004-DMD
Status last verified
Jan 2009
First submitted
9 Dec 2005
Last updated
14 Jan 2009
Results posted
No

Publications

  • Finkel RS, Flanigan KM, Wong B, Bonnemann C, Sampson J, Sweeney HL, Reha A, Northcutt VJ, Elfring G, Barth J, Peltz SW. Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. PLoS One. 2013 Dec 11;8(12):e81302. doi: 10.1371/journal.pone.0081302. eCollection 2013.

    PubMed 24349052

Questions about this trial

What is this clinical trial studying?

A Phase 2 study testing PTC124 in people with Duchenne Muscular Dystrophy, run by PTC Therapeutics at 3 sites in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 9 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 14 Jan 2009. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this phase mean?

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

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. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT00264888, which also lists 1 linked publication.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Jan 2009; AzTrials last refreshed its copy on 8 Nov 2026.

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