Clinical trial: Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study (NCT02780492)

Eligibility criteria:
Inclusion Criteria:

        For non-ambulant patients:

          1. Children and teenagers aged between 5 and 18 years with DMD, who have lost the ability
             to walk 10 meters with no support

          2. The diagnosis of DMD must be documented by genetic testing. If a muscle biopsy is
             available, it should contain less than 10% of revertant fibres

          3. Patients should have deletions amenable of skipping of exons 51 or 53 or 45 or 44 or
             46 or 50 or 52

          4. Patients should be capable of sitting upright in a wheelchair for at least an hour

          5. Patients should be stable from a respiratory point of view. Artificial ventilation
             with either Bipap or tracheostomy is not a contraindication to the study.

          6. Informed consent signed by a parent/legal guardian (or by the patient if 16 years of
             age).

          7. In France, a subject will be eligible for inclusion in this study only if either
             affiliated to, or a beneficiary of, a social security category.

        For ambulant patients:

          1. Ambulant children from 5 years old and teenagers with DMD, and potential candidates
             for future genetic therapies with antisense oligomer (AO) exon skipping

          2. The diagnosis of DMD must be documented by MLPA or a standard genetic test for the
             disorder, genotypically confirmed to have an out-of-frame deletion(s) that could be
             corrected by skipping exon 51 or 53 or 45 or 44 or 46 or 50 or 52

          3. If a muscle biopsy is available less than 10% revertant fibres

          4. Ability to walk independently for at least 75 meters in 6 minutes at recruitment.

          5. Patients should receive the standard of care for DMD as recommended by the NorthStar
             UK and TREAT-NMD (i.e.: on glucocorticoids treatment)

          6. Sufficiently preserved pulmonary function (FVC >30%) and absence of symptoms of
             cardiac failure

          7. Informed consent signed by a parent/legal guardian (or by the patient if 16 years of
             age)

          8. In France, a subject will be eligible for inclusion in this study only if either
             affiliated to, or a beneficiary of, a social security category.

        For healthy volunteers and disease controls:

          1. Participant are able to provide informed consent/assent for taking blood samples
             and/or performing limb MRI and/or physiotherapy assessment of the upper limb function

          2. Participants have a neuromuscular disease that is not Duchenne Muscular Dystrophy or
             are a healthy volunteer with no neuromuscular disease

          3. Able to have a blood sample taken

        Exclusion Criteria:

        For non-ambulant patients:

          1. Patients who are currently involved in interventional clinical trials aimed at
             restoring dystrophin will be excluded, as their data could not be used to establish
             natural history of the disease (participation in a previous interventional clinical
             trial prior to 6 months from being recruited in the study is not an exclusion
             criterion)

          2. Patients with severe intellectual impairment, who would be unable to cooperate with
             examination

          3. Patients/families the investigators anticipate may have emotional/ psychological
             problems if recruited into a natural history study

          4. Symptomatic cardiac failure

          5. Recent (< 6 months) upper limb surgery or trauma

          6. Anticipated surgery for anytime during the duration of the study

          7. None of the current treatments for DMD are exclusion criteria

          8. For the MRI sub-study, patients with metal/metallic surgically inserted equipment
             incompatible with MRI scan will be excluded as well as patients suffering from
             claustrophobia.

        For ambulant patients:

          1. Patients who are currently involved in interventional clinical trials aimed at
             restoring dystrophin will be excluded, as their data could not be used to establish
             natural history of the disease (participation in a previous interventional clinical
             trial prior to 6 months from being recruited in the study is not an exclusion
             criterion)

          2. Patients with severe intellectual impairment, who would be unable to cooperate with
             examination

          3. Patients/families the investigators anticipate may have emotional/ psychological
             problems if recruited into a natural history study

          4. Recent surgery or anticipated for anytime during the duration of the study

          5. For the MRI sub-study, patients with metal/metallic surgically inserted equipment
             incompatible with MRI scan will be excluded as well as patients suffering from
             claustrophobia.

        For healthy volunteers and disease controls

          1. Patients who are currently involved in interventional clinical trials aimed at
             restoring dystrophin will be excluded, as their data could not be used to establish
             natural history of the disease (participation in a previous interventional clinical
             trial prior to 6 months from being recruited in the study is not an exclusion
             criterion)

          2. Patients with severe intellectual impairment, who would be unable to cooperate with
             examination

          3. Patients/families the investigators anticipate may have emotional/ psychological
             problems if recruited into a natural history study

          4. For the MRI sub-study, patients with metal/metallic surgically inserted equipment
             incompatible with MRI scan will be excluded as well as patients suffering from
             claustrophobia
Male
Accepts Healthy Volunteers
Subject must be at least 5 Years old.
Subject must be at most 18 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