We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Try the New Site
We're building a modernized ClinicalTrials.gov! Visit Beta.ClinicalTrials.gov to try the new functionality.
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT05588401
Recruitment Status : Not yet recruiting
First Posted : October 20, 2022
Last Update Posted : October 24, 2022
Information provided by (Responsible Party):
Simone Spuler, MD, Charite University, Berlin, Germany

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.

Condition or disease Intervention/treatment Phase
LGMD Biological: GenPHSat injection (Safety) Biological: GenPHSat injection (Efficacy) Other: Muscle Biopsy (Safety) Phase 1 Phase 2

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.

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 6 participants
Allocation: N/A
Intervention Model: Sequential Assignment
Masking: None (Open Label)
Primary Purpose: Other
Official Title: Phase 1/2a First-in-human Trial Evaluating Autologous Gene-edited Muscle Stem Cells in Limb Girdle Muscular Dystrophies (GenPHSats-bASKet)
Estimated Study Start Date : July 1, 2023
Estimated Primary Completion Date : July 1, 2025
Estimated Study Completion Date : July 1, 2025

Arm Intervention/treatment
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.
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.

Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. 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.

Other Outcome Measures:
  1. Rate of Muscle force [ Time Frame: Until 6 month post injection ]
    Muscle force measurement data taken at screening (baseline), visit 1, 2, 3 and 4 (end of trial).

  2. Rate of Blood CK [ Time Frame: Until 6 month post injection ]
    CK blood determination at screening (baseline), visit 1, 2, 3 and 4 (end of trial).

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   14 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05588401

Layout table for location contacts
Contact: Simone Spuler, Prof Dr med 004930450540501 simone.spuler@charite.de
Contact: Christian Witzel, Dr med +49 30 553016 christian.witzel@charite.de

Sponsors and Collaborators
Simone Spuler, MD
Layout table for investigator information
Study Chair: Simone Spuler, Prof Dr med Charite Universitätsmedizin Berlin, Germany
Layout table for additonal information
Responsible Party: Simone Spuler, MD, Clinical Professor, Charite University, Berlin, Germany
ClinicalTrials.gov Identifier: NCT05588401    
Other Study ID Numbers: bASKet
First Posted: October 20, 2022    Key Record Dates
Last Update Posted: October 24, 2022
Last Verified: October 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No