A Study to Test Dystrophin (muscle protein) Levels in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

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Age: 2 to 7 years old
Gender:
Male
Healthy Volunteers: No
Keywords: Duchenne Muscular Dystrophy, DMD, nonsense mutation Duchenne Muscular Dystrophy, nmDMD
Type: Drug study, Phase 2
Target:
3 Participants
Investigator:
Description
Your child has been invited to take part in this research study because he has Duchenne Muscular Dystrophy (DMD). DMD is caused by a mutation (or error) in the gene for dystrophin. Dystrophin is a protein that keeps muscles healthy by keeping the structure of muscle cells.

One type of mutation in the dystrophin gene is called nonsense mutation. This type of mutation is the cause of DMD in about 15% of boys with the disease. A nonsense mutation in the dystrophin gene causes a premature stop signal. This premature stop signal tells the body to stop making the dystrophin protein in muscle before the protein is complete. The result is a shortened dystrophin protein that does not work and weakens the muscles.

The purpose of this research is to measure levels of dystrophin. It will be measured before and after nine months of treatment with an investigational drug called ataluren.

This study is for children who:
- are at least 2 years old and younger than eight years old.
- can walk.
- have Duchenne Muscular Dystrophy (DMD) caused by a nonsense mutation of the dystrophin gene.
This study requires

The study team will make sure you qualify to take part in the study. Qualified participants will receive detailed information about the study. This may include a list of study-related tests and procedures.

Who can participate

Inclusion criteria:

  • Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial.
  • Phenotypic evidence of duchenne muscular dystrophy (DMD) based on the onset of characteristic clinical symptoms or signs (for example, proximal muscle weakness, waddling gait, and Gowers' maneuver) and an elevated serum creatine kinase (CK). Medical documentation of phenotypic evidence of DMD needs to be provided upon request by the Sponsor's medical monitor.
  • Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing. Review and approval of documentation by sponsor or designee is required prior to enrollment.
  • Willing to undergo muscle biopsy.

Exclusion criteria:

  • Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy.
  • Known contra-indication to muscle biopsy (such as bleeding or clotting disorders).
  • Prior or ongoing therapy with ataluren.
  • Known hypersensitivity to any of the ingredients or excipients of the study drug (for example, refined polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, colloidal silica, magnesium stearate).
  • Exposure to another investigational drug within 2 months prior to start of study treatment, or ongoing participation in any interventional clinical trial.
  • Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy. Evening non-invasive mechanical ventilation such as use of bilevel positive airway pressure (Bi-PAP) therapy is allowed.
  • Elevated serum creatinine or cystatin C levels at screening.
  • Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder), medical history, physical findings or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.
Benefits and risks of participating
BENEFITS:

We cannot promise any benefits to you as a result of taking part in this research study.


RISKS:

The study doctor will discuss the risks associated with taking part in this research study.
Compensation
You will not be paid to take part in this research study.
Resources
Schedule
Study duration and period
The study will last approximately 15 months. Your child’s participation in this research will involve four (4) visits and will last 40 weeks (about nine (9) months).
Recruitment period
From May 6, 2019
Location
UC Davis Medical Center
2315 Stockton Boulevard
Sacramento, CA 95817
Contact
Rickey Reid
Research Topic
Conditions:
  • Duchenne Muscular Dystrophy