Clinical trial: Phase I/II Study of PRO044 in Duchenne Muscular Dystrophy (DMD) (NCT01037309)

Eligibility criteria:
Inclusion Criteria:

          1. Boys aged between 5 and 16 years inclusive.

          2. Duchenne muscular dystrophy resulting from a mutation correctable by treatment with
             PRO044.

          3. Life expectancy of at least 6 months.

          4. No previous treatment with investigational medicinal treatment within 6 months prior
             to the start of the (pre)-screening for the study.

          5. No previous treatment with idebenone within 6 months prior to the start of the
             (pre)-screening for the study.

          6. Willing and able to adhere to the study visit schedule and other protocol
             requirements.

          7. Written informed consent signed (by parent(s)/legal guardian and/or the patient,
             according to the local regulations).

          8. Glucocorticosteroids use which is stable for at least 2 months prior first drug
             administration.

        Exclusion Criteria:

          1. Aberrant RNA splicing and/or aberrant response to PRO044, detected by in vitro PRO044
             assay during pre-screening.

          2. Known presence of dystrophin in ≥ 5% of fibers in a pre-study diagnostic muscle
             biopsy.

          3. Severe muscle abnormalities defined as increased signal intensity in >50% of the
             tibialis anterior muscle at MRI.

          4. FEV1 and/or FVC < 60% of predicted.

          5. Current or history of liver or renal disease.

          6. Acute illness within 4 weeks prior to treatment (Day 1) which may interfere with the
             measurements.

          7. Severe mental retardation which in the opinion of the investigator prohibits
             participation in this study.

          8. Severe cardiac myopathy which in the opinion of the investigator prohibits
             participation in this study.

          9. Need for mechanical ventilation.

         10. Creatinine concentration above 1.5 times the upper limit of normal (age corrected).

         11. Serum ASAT and/or ALAT concentration(s) which suggest hepatic impairment.

         12. Use of anticoagulants, antithrombotics or antiplatelet agents.

         13. Use of idebenone.

         14. Use of any investigational product within 6 months prior to the start of the
             (pre)-screening for the study.

         15. Subject has donated blood less than 90 days before the start of the (pre)-screening
             for the study.

         16. Current or history of drug and/or alcohol abuse.

         17. Participation in another trial with an investigational product.
Male
No healthy subjects accepted to join the trial.
Subject must be at least 5 Years old.
Subject must be at most 16 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? Entailment