Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)
Tip 2D kuşak kemer kas distrofisi (limb girdle muscular dystrophy, LGMD2D), alfa-sarkoglikan proteininin yetersizliği nedeniyle zamanla artan kas güçsüzlüğüne yol açan kalıtsal bir kas hastalığıdır. Bu çalışmada, rAAV1.tMCK.human-alpha-sarcoglycan adlı gen aktarım ürününün güvenliği ve etkinliği değerlendirilmiştir. Faz 1 (Phase 1) çalışmaya, 5 yaş ve üzeri, gen aktarımı için yeterli kas dokusu korunmuş LGMD2D tanılı katılımcılar alınmıştır.
Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.
Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.
Inclusion Criteria: * Six LGMD2D subjects ages 5 and older based on the clinical degree of involvement (impaired muscle function/weakness, sufficient muscle preservation) * Preservation of EDB muscle or another muscle if judged more favorable because of adequate muscle mass for gene transfer * Males and females of any ethnic group * Established mutations of an -SG gene on both alleles * Ability to cooperate for testing * Sexually active patients must be willing to practice a reliable method of contraception during the study Exclusion Criteria: * Active viral infection (symptoms listed in section 9.0 of the protocol) * LGMD2D subjects without weakness or functional loss * Cardiomyopathy based on clinical exam and ECHO with ejection fraction less than 40% * HIV infected * Hepatitis A, B, or C infected * Autoimmune diseases and immunosuppressive drugs (other than pulse methylprednisolone at time of gene transfer) * Persistent leucopenia or leucocytosis (WBC less than or equal to 3.5 K/cu mm or at least 20.0 K/ cu mm) or neutrophils less than 1.5 K/ cu mm * Concomitant illness or requirement for chronic drug treatment that in the opinion of the Principal Investigator creates unnecessary risks for gene transfer * Pregnancy * Abnormal laboratory values considered clinically significant * Alcoholism (CAGE questionnaire), and laboratory tests such as GGT and MCV