Evaluating Safety and Efficacy of Autologous Gene-edited Muscle Stem Cells (GenPHSats-bASKet)
- Conditions
- LGMD
- Registration Number
- NCT05588401
- Lead Sponsor
- Simone Spuler, MD
- Brief Summary
This study is an investigator initiated first-in-human interventional open label phase 1/2a clinical trial investigating an ATMP in the orphan disease LGMD to evaluate safety and efficacy.
- Detailed Description
This trial is directed towards a first-in-human application of GenPHSats; gene edited primary human satellite cell derived muscle stem cells as a new Advanced Therapy Medicinal Product (ATMP) in a phase 1/2a clinical trial with Gene edited PHSats (GenPHSats) initiating healthy muscle development in patients with LGDM. The trial is set up to verify if GenPHSats can provide an therapy option for LGDM patients as there is currently no therapy available. The GenPHSats are an autologous product comprised of primary human satellite cell derived muscle stem cells obtained from the patient's own muscle tissue and gene edited in vitro prior to transplantation.
Recruitment & Eligibility
- Status
- NOT_YET_RECRUITING
- Sex
- All
- Target Recruitment
- 6
- LGDM diagnosed,
- Identified gene defect location and gene editing proved feasible,
- Age ≥14 years,
- Patient in treatment in the department at Charité, Universitätsmedizin Berlin, Muscle Research Unit and Outpatient Clinic for Muscle Disorders,
- Signed informed consent
- Acute or chronic inflammatory local or systemic disease
- Coagulation disorder
- Known complications due to local anesthesia,
- Congenital heart defect, cardiac arrhythmia,
- Pathology of the airways such as micrognathia
- Pierre Robin Sequence
- Central hypoventilation syndrome/Ondine syndrome
- Significant other medical or psychiatric illness
- Positive serology for HIV and/or hepatitis A, B, C
- Pregnant or lactating women
- Known allergic reaction to constituents of the cryopreservation medium
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SEQUENTIAL
- Primary Outcome Measures
Name Time Method Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability] Through study completion, an average of 1 year Characterization of type, incidence, severity, duration, reversibility, treatability of adverse events recorded at least at visit 1, 2, 3 and 4 (end of trial).
- Secondary Outcome Measures
Name Time Method Rate of muscle biopsy post-injection structure 3 month post injection The muscle biopsy taken and stained to visualize muscle biopsy structure after 3 month post injection.