Evaluating Safety and Efficacy of Autologous Gene-edited Muscle Stem Cells (GenPHSats-bASKet)

Overview

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.

Full Title of Study: “Phase 1/2a First-in-human Trial Evaluating Autologous Gene-edited Muscle Stem Cells in Limb Girdle Muscular Dystrophies (GenPHSats-bASKet)”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Sequential Assignment
    • Primary Purpose: Other
    • Masking: None (Open Label)
  • Study Primary Completion Date: July 1, 2025

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.

Interventions

  • Biological: GenPHSat injection (Safety)
    • Participants receive gene edited primary human muscle stem cells (GenPHsat) injection in the left biceps muscle.
  • Biological: GenPHSat injection (Efficacy)
    • Participants receive gene edited primary human muscle stem cells (GenPHsat) injection in the right biceps muscle.
  • Other: Muscle Biopsy (Safety)
    • Participants undergo muscle biopsy 3 month after safety GenPHSat injection.

Arms, Groups and Cohorts

  • Experimental: GenPHSat safety injection and GenPHSat efficacy injection
    • Initial intervention with six injections into the left biceps. A second intervention with 36 injections into the right biceps.

Clinical Trial Outcome Measures

Primary Measures

  • Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]
    • Time Frame: 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 Measures

  • Rate of muscle biopsy post-injection structure
    • Time Frame: 3 month post injection
    • The muscle biopsy taken and stained to visualize muscle biopsy structure after 3 month post injection.

Participating in This Clinical Trial

Inclusion Criteria

  • 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 Exclusion Criteria:

  • 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

Gender Eligibility: All

Minimum Age: 14 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Simone Spuler, MD
  • Provider of Information About this Clinical Study
    • Sponsor-Investigator: Simone Spuler, MD, Clinical Professor – Charite University, Berlin, Germany
  • Overall Official(s)
    • Simone Spuler, Prof Dr med, Study Chair, Charite Universitätsmedizin Berlin, Germany
  • Overall Contact(s)
    • Simone Spuler, Prof Dr med, 004930450540501, simone.spuler@charite.de

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