Clinical Trial

Disease: Limb girdle muscular dystrophy (NCT05588401)

Disease info:

Limb-girdle muscular dystrophy (LGMD) is a diverse group of disorders with many subtypes categorised by disease gene and inheritance. LGMD usually manifests in the proximal muscles around the hips and shoulders. The proximal muscles are those closest to the center of the body; distal muscles are farther away from the center — for example, in the hands and feet.

The shoulder girdle is the bony structure that surrounds the shoulder area, and the pelvic girdle is the bony structure surrounding the hips. Collectively, these are called the limb girdles, and it is the observed weakness and atrophy (wasting) of the muscles connected to the limb girdles that has given this group of disorders its name.

The hallmark symptoms of LGMD include weakness and atrophy of the limb-girdle muscles. However, the age at which symptoms appear, and the speed and severity of disease progression, can vary. Individuals may first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat, or climbing stairs. As this weakness progresses, the person may require the use of assistive mobility devices. Additional symptoms include weakness of the heart muscle (cardiomyopathy) and/or abnormal transmission of signals that regulate the heartbeat (conduction abnormalities or arrhythmias). Some disease subtypes also involve the muscles used for breathing, and for that reason, respiratory function, along with cardiac function, should be monitored regularly. Other symptoms may be present in some of the different subtypes of LGMD, including muscle cramps, enlargement of calf muscles, and involvement of distal muscles of the body such as those controlling the hands and feet.

LGMD can arise through mutations in a large number of different genes, with mutations in certain genes linked to certain subtypes of diease. There are also many cases of LGMD for which the causative gene is not yet known (and people with these cases are not identified as having a subtype-specific form of LGMD). 

Source: Muscular Dystrophy Association (United States)


Together, the group of disorders that constitute LGMD is the fourth most common genetic cause of muscle weakness with an estimated prevalence in about 2 in every 100,000 individuals.
Official title:
Phase 1/2a First-in-human Trial Evaluating Autologous Gene-edited Muscle Stem Cells in Limb Girdle Muscular Dystrophies (GenPHSats-bASKet)

Study Chair: Simone Spuler, Prof Dr med

Charite Universitätsmedizin Berlin, Germany

Contact: Simone Spuler, Prof Dr
Contact: Christian Witzel, Dr med+49 30



Simone Spuler, MD


No information available (as of 29th May 2023)

Study start:
Jul. 1, 2023
6 participants, 14 years and older
Gene editing method:
Type of edit:
Gene correction
Delivery method:
- Ex-vivo
IND Enabling Pre-clinical
Phase I Safety
Phase II Safety and Dosing
Phase III Safety and Efficacy

Status: Not yet recruiting


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.

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.

Last updated: Jun. 5, 2023
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