Clinical trial: An Open-Label Extension Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy (NCT03917719)

Eligibility criteria:
For Patients who Completed CAT-1004-201 or CAT-1004-301:

        Inclusion Criteria:

          -  Written consent/assent by patient and/or legal guardian as per regional and/or
             Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements

          -  Completion of either CAT-1004-201 or CAT-1004-301

        Exclusion Criteria:

          -  In the Investigator's opinion, unwilling or unable for any reason to complete all
             study assessments and laboratory tests and comply with scheduled visits,
             administration of drug, and all other study procedures

        For Siblings of Patients who Completed CAT-1004-201 or CAT-1004-301:

        Inclusion Criteria:

          -  Written consent/assent by patient and/or legal guardian as per regional and/or
             Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements

          -  A sibling of a patient who completed either CAT-1004-201 or CAT-1004-301

          -  Diagnosis of DMD based on a clinical phenotype with increased serum creatine kinase
             (CK) and documentation of mutation(s) in the dystrophin gene known to be associated
             with a DMD phenotype

          -  Followed by a doctor or medical professional who coordinates Duchenne care on a
             regular basis and willingness to disclose patient's study participation with medical
             professionals

        Exclusion Criteria:

          -  Use of oral corticosteroids at screening; use of inhaled, intranasal, and topical
             corticosteroids is permitted

          -  Use of another investigational drug, idebenone, or dystrophin-focused therapy within 4
             weeks. Exception: Patients who are currently on or plan to initiate treatment with
             approved oligonucleotide exon-skipping therapies, and expected to continue treatment
             throughout the study, will be eligible

          -  Use of the following within 4 weeks prior to Day 1: immunosuppressive therapy,
             anticoagulants, cyclosporine, dihydroergotamine, ergotamine, fentanyl, alfentanil,
             pimozide, quinidine, sirolimus or tacrolimus

          -  Use of human growth hormone within 3 months prior to Day 1

          -  Other prior or ongoing significant medical conditions
Male
No healthy subjects accepted to join the trial.
Subject must be at least 4 Years old.
Subject must be at most 12 Years

Patient description (medical language): An 8-year-old boy is brought to the clinic by his parents because of weakness and difficulty of standing up from a sitting position. The mother is healthy but had a brother who died in his 20th after being disabled and using wheelchairs in the last few years of his life. Physical examination shows 3/5 lower extremity muscle strength and enlarged calf muscles. The other physical examination and vital signs are unremarkable. Muscle biopsy showed absence of dystrophin protein. The patient is diagnosed with DMD.

Patient description (patient's own words): I brought my  8-year-old son to the doctor's clinic. He was struggling to stand up from a chair for the past few days. My wife is healthy but she was pretty worried since his brother died in his 20s after being disabled and using a wheelchair for the last years of his life. The doctor did an exam which highlighted weakness in the leg muscles and unusually large calf muscles. The rest of the exam was fine, and his vitals were normal. My son did a muscle biopsy, and it showed that the protein important for muscle strength and function is missing. The doctor diagnosed him with Duchenne muscular dystrophy.

Does the patient match the trial criteria? Contradiction