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

Simone Spuler, MD

Status and phase: Not yet enrolling; Phase 2; Phase 1

Conditions: LGMD

Treatments: Biological: GenPHSat injection (Efficacy); Other: Muscle Biopsy (Safety); Biological: GenPHSat injection (Safety)

Study type: Interventional

Funder types: Other

Identifiers

NCT05588401

bASKet

Details and patient eligibility

About

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 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.

Enrollment: 6 estimated patients

Sex: All

Ages: 14+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Other

Allocation: N/A

Interventional model: Sequential Assignment

Masking: None (Open label)

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6 participants in 1 patient group

GenPHSat safety injection and GenPHSat efficacy injection

Experimental group

Description:

Initial intervention with six injections into the left biceps. A second intervention with 36 injections into the right biceps.

Treatment:

Biological: GenPHSat injection (Efficacy)

Biological: GenPHSat injection (Safety)

Other: Muscle Biopsy (Safety)