Clinical Trial
Limb Girdle Muscular
Dystrophy Type 2I/R9 (LGMD 2I/R9)
LION-CS101 is a randomized, double-blind, placebo-controlled, two-part multicenter trial—with a dose-escalation safety phase (Part 1) followed by a double-blind, placebo-controlled adaptive phase (Part 2)—to evaluate the safety and efficacy of AB-1003 in adult subjects with LGMD 2I/R9 mutations in the gene encoding fukutin-related protein (FKRP).
What is Limb Girdle Muscular Dystrophy Type 2I/R9 (LGMD2I/R9)?
LGMD refers to a group of inherited conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD 2I/R9, a form of LGMD, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen over time, and affected people generally rely on a wheelchair for mobility within decades after onset. LGMD 2I/R9 is also associated with heart failure and respiratory failure.
LGMD 2I/R9 is a rare genetic disease, which means that it is caused by one or more genes not working correctly. It is one of the more common forms of LGMD in Northern Europe, and it is inherited in an autosomal recessive manner. This genetic condition is caused by a mutation in fukutin-related protein (FKRP). FKRP is an enzyme used to glycosylate α-Dystroglycan (α-DG) within muscle cells, a step required in the formation of muscle fibers used to maintain normal muscle integrity and function. Without sufficient FKRP, muscle fibers are prone to chronic and irreversible injury.
The medical management of LGMD 2I/R9 is only supportive. There are no disease-modifying therapies approved for the treatment of this rare disease.
About the LION-CS101 Clinical Trial
AB-1003 is a therapy that is being investigated for the treatment of LGMD2I/R9. AB-1003 is a one-time gene therapy that targets and expresses FKRP, predominantly in muscle tissues.
The first clinical trial in the US has been started to evaluate AB-1003 for the treatment of LGMD 2I/R9. This is a double-blind, randomized, placebo-controlled trial, which means you may initially receive either gene therapy or placebo. However, at the end of the trial all eligible patients who were initially given placebo will be offered an opportunity to receive gene therapy.
Learn more about the AB-1003 clinical trial (NCT05230459) at A Study to Evaluate the Safety of AB-1003 in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1) – Full Text View – ClinicalTrials.gov.
AB-1003 is an investigational therapy currently being studied for the treatment of LGMD 2I/R9. Investigational means it is not currently approved by any regulatory agency for use, as efficacy and safety have not been established.
Clinical trial activities are outlined below:
Pre-screening and Screening period
Used to determine eligibility for enrollment into the AB-1003 clinical trial.
Gene Therapy Administration
Administration of one infusion of AB-1003 (or placebo) by single intravenous infusion at the bedside.
At the end of the trial, those who initially received placebo and remain eligible will be offered gene therapy.
Health Assessments
Regular trial visits during the 1st year, to measure the immediate and long-term effects of the treatment, are performed after receiving therapy.
These trial visits may take place over several days at the clinical trial site, local laboratory, physical therapy facility, or at a home visit.
Long Term Follow Up Period
Follow up visits will occur for total 5 years after receiving gene therapy.
Are You Eligible?
Clinical studies have specific eligibility criteria that participants must meet, to be enrolled into the trial. These are called inclusion and exclusion criteria and are related to a person’s health when they enter the screening process. Please refer to the full inclusion and exclusion criteria for the AB-1003 clinical trial (NCT05230459) at A Study to Evaluate the Safety of AB-1003 in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1) – Full Text View – ClinicalTrials.gov.
Patients may be eligible if they:
- Are between 18 -65 years of age and diagnosed with LGMD2I/R9.
- Have the ability to climb 4 stairs between 2.5 and 10 seconds.
- Have the ability to walk/run 10 meters in under 30 seconds.
Patients are not eligible if they:
- Have been diagnosed with a heart defect, heart failure, or heart conduction defect.
- Have liver disease or abnormal liver function.
- Have abnormal kidney function.
- Require daytime ventilatory support.
- Have other life-threatening disease or medical history of life-threatening disease.
- Have the presence of neutralizing antibodies to the therapy in your blood.
The LION-CS101 Clinical Trial
To find out if you are eligible, please speak with your doctor or visit clinicaltrials.gov to learn more about LION-CS101 (NCT05230459).
