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, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular Dystrophy

Eligibility criteria:
Inclusion Criteria:

          -  Patient is a male or female aged 18 to 65 years, inclusive.

          -  Patient has an established, genetically-confirmed, diagnosis of facioscapulohumeral
             dystrophy with clinical findings meeting existing criteria.

          -  Patient has provided written informed consent after the nature of the study has been
             explained and prior to the performance of any research-related procedures.

          -  Patient is, in the Investigator's opinion, willing and able to comply with all study
             procedures.

          -  Cohorts ≥2 only: Patient has imaging findings meeting defined criteria for muscle
             inflammation in at least 1 skeletal muscle

        Exclusion Criteria:

          -  Patient is currently receiving treatment with an immunomodulatory agent or has a
             history of such treatment, including targeted biological therapies (e.g., etanercept,
             omalizumab) within the 3 months before Baseline; corticosteroids within 4 weeks before
             Baseline; or high-dose non-steroidal anti-inflammatory agents (NSAIDs) within 2 weeks
             before Baseline.

          -  Patient is currently receiving curcumin or albuterol or requires such treatment during
             study participation.

          -  Patient has evidence of an alternative diagnosis other than FSHD, based on prior
             muscle biopsy or genetic test findings.

          -  Patient has a presumptive diagnosis of FSHD, based on clinical assessment, but does
             not yet have genetic confirmation of the diagnosis.

          -  Patient has a severe retinopathy.

          -  Patient has a history of obstructive or restrictive lung disease (including
             interstitial lung disease, pulmonary fibrosis, or asthma), or evidence for
             interstitial lung disease on Screening chest radiograph.

          -  Patient has a history of anti-synthetase syndrome, prior Jo-1 antibody
             (Ab)-positivity, or has a positive or equivocally positive Jo-1 Ab test result during
             Screening.

          -  Patient has acute or clinically relevant Epstein-Barr virus or cytomegalovirus
             infection or re-activation.

          -  Patient has a chronic infection such as hepatitis B virus, hepatitis C virus, or human
             immunodeficiency virus or a history of tuberculosis.

          -  Patient has received a vaccination within 8 weeks before Baseline or vaccination is
             planned during study participation.

          -  Patient has symptomatic cardiomyopathy or severe cardiac arrhythmia that may, in the
             Investigator's opinion, limit the patient's ability to complete the study protocol.

          -  Patient has anemia (as defined for patient's age and gender by local laboratory
             range).

          -  Patient has gamma-glutamyl transferase (GGT) or serum creatinine levels >2 × the upper
             limit of normal (ULN).

          -  Patient has abnormal baseline findings, medical condition(s), or laboratory findings
             that, in the Investigator's opinion, might jeopardize patient's safety or decrease the
             chance of obtaining satisfactory data needed to achieve the objectives of the study.

          -  Patient has evidence of clinically significant cardiovascular, pulmonary, hepatic,
             renal, hematological, metabolic, dermatological, or gastrointestinal disease, or has a
             condition that requires immediate surgical intervention or other treatment or may not
             allow safe participation.

          -  Patient has used any investigational product or device (other than a mobility
             assistance device) within 30 days before Baseline.

          -  Patient has received a product intended to enhance muscle growth within 30 days before
             Baseline.

          -  Patient underwent muscle biopsy within 30 days before Baseline.

          -  Patient initiated treatment with a statin or had a significant adjustment to their
             statin regimen within 3 months before Baseline. (Stable, chronic statin use is
             permissible.)

          -  Patient has received a product that putatively enhances muscle growth (e.g.,
             insulin-like growth factor, growth hormone) or activity (e.g., Coenzyme A) on a
             chronic basis within 4 weeks before Baseline.

          -  Patient is unwilling to abstain from strenuous physical activity for 24 hours prior to
             each study center visit.

          -  Patient previously received ATYR1940.

          -  If female and of childbearing potential (premenopausal and not surgically sterile),
             patient has a positive pregnancy test at Screening or is unwilling to use
             contraception from the time of Screening through 1 -month after the last Study Drug
             dose. Acceptable methods of birth control include abstinence, barrier methods,
             hormones, or intra-uterine device.

          -  If male, patient is unwilling to use a condom plus spermicide during sexual
             intercourse from the time of Screening through 1 -month after the last Study Drug
             dose.

          -  Cohorts ≥2 only: Patient has a known contraindication for MRI assessments (e.g., metal
             prosthesis or pacemaker) as per local site MRI protocol
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.
Subject must be at most 65 Years

Eligibility (NLI label): Contradiction