Clinical Research Study Viewer

Gene Therapy Trial for Limb Girdle-Muscular Dystrophy Type 2B (LGMD2B)

Study Details

Principal Investigator

Jerry Mendell, MD, Nationwide Children's Hospital

Study Title and Phase

Intramuscular Gene Transfer Clinical Trial for Dysferlin Deficiency Delivering the Dysferlin Gene by AAVrH74, Phase I

Study Duration

2 years (11 visits, including one pre-screening visit prior to treatment)

Inclusion Criteria

  • 18 years or older
  • Non-ambulant (cannot walk 10 meters in ≤ 30 seconds)
  • Established mutations of the Dysferlin gene on both alleles
  • Impaired muscle function, but with sufficient muscle preservation to ensure muscle transfection based on MRI or ultrasound
  • Willingness to practice reliable contraception methods for subjects who are sexually active with reproductive capacity, during the first 6 months after gene transfer

Exclusion Criteria

  • Active viral infection (includes HIV or serology positive for hepatitis B or C)
  • Presence of Dysferlin mutations without weakness or loss of function
  • Symptoms or signs of cardiomyopathy
  • Diagnosis of (or ongoing treatment for) an autoimmune disease
  • Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥ 20.0 K/µL) or an absolute neutrophil count < 1.5K/µL
  • Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer
  • Pregnancy
  • AAVrh74 or AAV8 binding antibody titers > 1:50 as determined by ELISA immunoassay
  • Abnormal laboratory values in the clinically significant range as designated by the PI for kidney function, liver function and hemologic studies

Coordinator Contact Information

Beverly Galliers

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Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000