Patient case (clinical description): 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's own account: 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.

Clinical trial: Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular Dystrophy

Eligibility criteria:
Inclusion Criteria:

          1. Subject is male ≥ 10 years and ≤ 17 years of age at the time of study drug
             administration.

          2. Subject has clinical diagnosis compatible with Duchenne's Muscular Dystrophy (DMD) and
             evidence of mutational and dystrophin defects from muscle biopsy consistent with DMD
             (out-of frame deletions, absent dystrophin).Eligible deletions are those that can be
             rescued by the skipping of exon 51 [45-50; 47-50; 48-50; 49-50; 50; 52; 52-63].

          3. Subject has had a muscle biopsy analysed, showing <5% revertant fibres present. Biopsy
             may be collected at the time of DMD diagnosis or as part of protocol screening
             procedures.

          4. Subject is unable to ambulate or stand independently.

          5. Subject has Stage 1 to 3 EDB muscle preservation determined by MRI.

          6. Subject has a forced vital capacity ≥ 25% confirmed within 3 months from Day One.

          7. Subject has mean oxygen saturation monitoring > 94% in overnight domiciliary overnight
             sleep study within 3 months of Day One.

          8. Subject has the ability to comply with all study evaluations and return for all study.

          9. Subject and parent have psychiatric adjustments, adequately supportive psychosocial
             circumstances and a full understanding of study aims process and likely outcomes.

        Exclusion Criteria:

          1. Subject has had external digitorum brevis (EDB) muscle removed.

          2. Subject has Stage 4 EDB muscle preservation determined by MRI.

          3. Subject has a left ventricular shortening fraction of < 25% and/or an ejection
             fraction of < 35% by echocardiography at visit one or within three months of visit
             one.

          4. Subject has evidence of nocturnal hypoventilation (mean oxygen saturation at night of
             ≤ 94%) confirmed via overnight sleep study at Visit One (as screening procedure) or
             within 3 months of Visit One by overnight sleep study.

          5. Subject has severe respiratory insufficiency defined by the need for invasive or
             non-invasive mechanical ventilation (does not include nocturnal ventilatory support).

          6. Subject has severe cognitive dysfunction rendering them unable to understand and
             collaborate with study protocol.

          7. Subject has immune deficiency or autoimmune disease.

          8. Subject has a known bleeding disorder or has received chronic anticoagulant treatment
             within three months of study entry.

          9. Subject has received pharmacologic treatment, apart from corticosteroids, that might
             affect muscle strength or function within 8 weeks of study entry (viz.,anabolic
             steroids, creatine protein supplementation, albuterol or other beta agonists).

         10. Subject has had surgery within 3 months of study entry or planned for anytime during
             study.

         11. Subject has active significant illness at time of study entry.

         12. Subject has is unable to undergo MRI testing (viz., has metal implants).

         13. Subject or parent has active psychiatric disorder, has adverse psychosocial
             circumstances, recent significant emotional loss, history of depressive or anxiety
             disorders that might interfere with protocol completion or compliance.

         14. Subject has any known allergies to products likely to be used in the study
             (viz.,antiseptics, anaesthetics).

         15. Subject has used any experimental treatments or has participated in any clinical trial
             within 4 weeks of study entry.

         16. Subject has used intranasal, inhaled or topical steroids for a condition other than
             muscular dystrophy within 1 weeks of study entry.
Male
No healthy subjects accepted to join the trial.
Subject must be at least 10 Years old.
Subject must be at most 17 Years

Eligibility (NLI label): Contradiction