Gene Therapy Trial in Patients With LGMDR9

Gene Therapy Trial in Patients With LGMDR9
Recruitment Status: 
Status Last Updated: 
August 24 2022
Clinical Phenotype(s): 
Study Purpose: 

Phase 1-2 study including a dose escalation safety and proof of concept phase (Stage 1, open label), followed by a double-blind, randomized, placebo-controlled confirmatory phase (Stage 2)

Other: GNT0006 Other: Day 0: Placebo Other: Day 0: GNT0006 Other: Day 365 (year 1): Placebo Other: Day 365 (year 1): GNT0006
Study Description: 

Multicenter, Phase 1-2 study evaluating safety, pharmacodynamic, efficacy, and immunogenicity of GNT0006, an Adeno-Associated Virus (AAV) vector carrying the human FKRP transgene.

This study will consist of 2 phases: an open-label dose escalation phase (Stage 1) and a double-blind placebo controlled, randomized phase (Stage 2), both with long-term follow-up (LTFU) period.

Stage 1 Two dose cohorts will be enrolled sequentially and enrollment. An initial cohort of three (3) patients will receive a potentially effective dose, followed by a 2nd higher dose cohort of 3 patients.

Stage 2 After selection of the effective dose in Stage 1, thirty-three (33) ambulant patients will be randomized at the optimal selected dose and followed up to the primary efficacy timepoint, i.e., one year after investigational medicinal product (IMP) (or placebo) administration.

At one-year post-IMP administration (timepoint of primary interest for efficacy), patients enrolled in placebo group will receive active IMP while patients randomized in the active IMP group will receive a placebo infusion.

All subjects will be followed for up to 5 years after active IMP (GNT0006) administration.

Study Type: 
Official Title: 
A Phase 1-2 Multicenter Study (2-stages) to Evaluate the Safety and Efficacy of Intravenous GNT0006, Adeno-associated Viral Vector Carrying the FKRP Gene, in Patients With FKRP-related Limb-girdle Muscular Dystrophy (LGMDR9, Formerly LGMD2I)
Study Start Date: 
August 10, 2022
Study Completion Date: 
October 2030
Primary Objective(s): 

Percent change from baseline in Forced Vital Capacity at one year [ Time Frame: Baseline through 12 months ]

Primary endpoint

Secondary Objective(s): 

10-Meter Walk test (10MWT) [ Time Frame: Baseline through 12 months ]

Secondary endpoint

Timed Up and Go (TUG) test [ Time Frame: Baseline through 12 months ]

Secondary endpoint

Change from baseline in North Star Assessment for Neuromuscular Disorders (NSAD) scale (with a range from 0 to 54, the higher the score the better the ability) [ Time Frame: Baseline through 12 months ]

Scale to assess patient's abilities necessary to remain functionally ambulant

2-minute walk distance test [ Time Frame: Baseline through 12 months ]

Secondary endpoint

Cardiac MRI [ Time Frame: Baseline through 12 months ]

To measure cardiac function (left ejection fraction)

Muscle MRI [ Time Frame: Baseline through 12 months ]

To measure change from baseline in fat repartition fraction in thigh and leg skeletal muscles

Muscle Biopsy [ Time Frame: Baseline through 12 months ]

Quantification of FKRP positive muscle fibers

Muscle Biopsy [ Time Frame: Baseline through 12 months ]

Percentage of glycosylation

Patient reported outcome and quality of life assessment [ Time Frame: Baseline through 12 months ]

Quality of Life in genetic Neuromuscular Disease (QoL-gNMD), with a range from 0 to 78, the higher the score the worse the quality of life

Patient reported outcome and quality of life assessment [ Time Frame: Baseline through 12 months ]

ACTIVLIM, scale measuring level of limitation in performing daily activities (total score ranging from 0 to 44, with the lower score the highest limitation)


Ages Eligible for Study:      16 Years to 99 Years   (Child, Adult, Older Adult)

Sexes Eligible for Study:      All

Accepts Healthy Volunteers:      No

Inclusion Criteria: 

1. Female and male ambulant patients

2. Patients ≥ 16 years old

3. Documented LGMDR9 diagnosis based on clinical presentation and genotyping confirming the FKRP gene mutations

4. Moderate diaphragmatic muscle impairment

Exclusion Criteria: 

1. Detectable serum neutralizing antibodies against AAV9

2. Cardiomyopathy

Study Site(s)/Location(s): 


Rigshospitalet, University of Copenhagen Blegdamsvej 9    Recruiting

Copenhagen, Denmark, 2100

Contact: John Vissing, Pr    +45 35452562   


Institute of Myology Pitié-Salpêtrière Hospital 47 Bd de l'Hôpital    Recruiting

Paris, France, 75013

Contact: Tanya Stojkovic, Dr    +33 (0) 1 42 16 58 70   

United Kingdom

Royal Victoria Infirmary Queen Victoria Road Level 6 Leazes Wing    Not yet recruiting

Newcastle Upon Tyne, United Kingdom, NE1 4LP

Contact: Volker Straub, Pr    +44 (0) 191 241 8762   

Sponsors & Collaborators: 

Atamyo Therapeutics

Principal Investigator(s): 


For more information, please contact the Study Coordinator: 



Phone: ID: