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: Clinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Duchenne Muscular Dystrophy

Eligibility criteria:
Inclusion Criteria:

          -  Age 7 or older

          -  Confirmed DMD gene mutations

          -  Impaired muscle function based on clinical evidence including difficulty climbing
             stairs, getting from the floor (Gowers' sign), and weakness of individual muscles of
             extremities

          -  Males of any ethnic group will be eligible

          -  Ability to cooperate with study procedures including muscle testing.

          -  Willingness of sexually active subjects with reproductive capacity to practice
             reliable method of contraception

          -  Subjects must be on stable dose of prednisone for three months at time of enrollment
             or be started on oral dose of daily prednisone regimen for 30 days prior to gene
             transfer. Study participants will continue prednisone post gene transfer unless there
             is adverse event that warrants prednisone taper or withdrawal.

        Exclusion Criteria:

          -  Active viral infection based on clinical observations.

          -  The presence of a DMD gene mutation without weakness or loss of function

          -  Symptoms or signs of cardiomyopathy, including:

          -  Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the
             base of the lungs

          -  Echocardiogram with ejection fraction below 40%

          -  Serological evidence of HIV infection, or Hepatitis A, B or C infection

          -  Diagnosis of (or ongoing treatment for) an autoimmune disease

          -  Concomitant illness or requirement for chronic drug treatment that in the opinion of
             the PI creates unnecessary risks for gene transfer

          -  Subjects with rAAV1 binding antibody titers > 1:50 as determined by ELISA immunoassay

          -  Abnormal laboratory values for liver, kidney, CBC, in the clinically significant
             range, based upon normal values in the Nationwide Children's Hospital Laboratory
Male
No healthy subjects accepted to join the trial.
Subject must be at least 7 Years old.


Eligibility (NLI label): Entailment