ATA-100 (Formerly GNT0006) Gene Therapy Trial in Patients With LGMDR9

A Phase 1 Multicenter Study to Evaluate the Safety and Tolerability of Intravenous GNT0006, Adeno-associated Viral Vector Carrying the FKRP Gene, in Patients With FKRP-related Limb-girdle Muscular Dystrophy (LGMDR9, Formerly LGMD2I)

Phase 1 dose escalation study to assess tolerability and safety of ATA-100 with 5-year follow-up

Study Overview

• Status: Active, not recruiting
• Conditions: LGMDR9
• Intervention / Treatment: Biological: ATA-100 (AAV9 encoding FKRP gene)

Detailed Description

Multicenter, Phase 1 study evaluating safety, pharmacodynamic, and immunogenicity of ATA-100, an Adeno-Associated Virus (AAV) vector carrying the human FKRP transgene.

This study is an open-label dose escalation phase with long-term follow-up (LTFU) period.

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.

All subjects will be followed for up to 5 years after active IMP (ATA-100) administration.

• Study Type: Interventional
• Enrollment (Actual): 6
• Phase: Phase 1

Contacts and Locations

Study Locations

• Denmark
  • Copenhagen, Denmark, 2100
    • Rigshospitalet, University of Copenhagen Blegdamsvej 9
• France
  • Paris, France, 75013
    • Institute of Myology Pitié-Salpêtrière Hospital 47 Bd de l'Hôpital
• United Kingdom
  • Newcastle upon Tyne, United Kingdom, NE1 4LP
    • Royal Victoria Infirmary Queen Victoria Road Level 6 Leazes Wing

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Non-Randomized
• Interventional Model: Sequential Assignment
• Masking: Quadruple

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Cohort 1; Cohort 1: single intravenous injection 9.0E+12 vg/Kg	Biological: ATA-100 (AAV9 encoding FKRP gene); Single intravenous infusion on Day 0
Experimental: Cohort 2; Cohort 2: single intravenous injection 2.7E+13 vg/Kg	Biological: ATA-100 (AAV9 encoding FKRP gene); Single intravenous infusion on Day 0

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Safety and tolerability	Incidence of Adverse Events and significant laboratory changes	Baseline through 12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Timed Up and Go (TUG) test	Secondary endpoint	Baseline through 12 months
2-minute walk distance test	Secondary endpoint	Baseline through 12 months
Cardiac MRI	To measure cardiac function (left ejection fraction)	Baseline through 12 months
Muscle MRI	To measure change from baseline in fat repartition fraction in thigh and leg skeletal muscles	Baseline through 12 months
Muscle Biopsy	Quantification of FKRP positive muscle fibers	Baseline through 12 months
Muscle Biopsy	Percentage of glycosylation	Baseline through 12 months
Patient reported outcome and quality of life assessment	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	Baseline through 12 months
Patient reported outcome and quality of life assessment	ACTIVLIM, scale measuring level of limitation in performing daily activities (total score ranging from 0 to 44, with the lower score the highest limitation)	Baseline through 12 months
Combined endpoint (global testing)	Change in North Star Assessment for musculary Dystrophy (NSAD) and Forced Vital capacity (FVC %) from baseline	Baseline through 12 months
Change from baseline in velocity as measured by 10MWT	10-meter walk test	Baseline through 12 months

Collaborators and Investigators

• Sponsor: Atamyo Therapeutics

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2022
• Primary Completion (Actual): February 1, 2025
• Study Completion (Estimated): September 30, 2029

Study Registration Dates

• First Submitted: December 15, 2021
• First Submitted That Met QC Criteria: February 3, 2022
• First Posted (Actual): February 4, 2022

Study Record Updates

• Last Update Posted (Estimated): October 6, 2025
• Last Update Submitted That Met QC Criteria: October 1, 2025
• Last Verified: October 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Limb-Girdle, Type 2I
• Other Study ID Numbers: ATA-001-FKRP; 2021-004276-33 (EudraCT Number)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No