NCT05230459

Brief Summary

The purpose of this study is to evaluate the safety and tolerability of a single intravenous infusion of AB-1003 in adults diagnosed with limb girdle muscular dystrophy type 2I/R9 (LGMD2I/R9). Participants will be treated in sequential, dose-level cohorts. (Part 1)

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
10

participants targeted

Target at below P25 for phase_1

Timeline
80mo left

Started May 2023

Longer than P75 for phase_1

Geographic Reach
1 country

6 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress31%
May 2023Dec 2032

First Submitted

Initial submission to the registry

January 27, 2022

Completed
13 days until next milestone

First Posted

Study publicly available on registry

February 9, 2022

Completed
1.3 years until next milestone

Study Start

First participant enrolled

May 15, 2023

Completed
5.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2028

Expected
4 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2032

Last Updated

February 20, 2026

Status Verified

February 1, 2026

Enrollment Period

5.6 years

First QC Date

January 27, 2022

Last Update Submit

February 18, 2026

Conditions

Keywords

gene therapyLGMD2ILGMD2I/R9gene augmentation therapyFKRPfukutin related proteinFKRP mutation

Outcome Measures

Primary Outcomes (1)

  • Adverse Events

    Treatment Emergent Adverse Events, Serious Adverse Events, Dose Limiting Toxicity

    0-52 weeks

Study Arms (3)

AB-1003 Cohort 1

EXPERIMENTAL
Genetic: AB-1003 dose level 1

AB-1003 Cohort 2

EXPERIMENTAL
Genetic: AB-1003 dose level 2

Placebo (Cohorts 1 and 2)

PLACEBO COMPARATOR
Other: Placebo

Interventions

Single intravenous infusion of AB-1003 gene therapy at dose level 1

AB-1003 Cohort 1

Single intravenous infusion of AB-1003 gene therapy at dose level 2

AB-1003 Cohort 2
PlaceboOTHER

Single intravenous infusion of Placebo

Placebo (Cohorts 1 and 2)

Eligibility Criteria

Age18 Years - 65 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • Male and female subjects aged 18 and 65 years with clinical diagnosis of LGMD2I/R9 and confirmation of FKRP gene mutation.
  • Ability to walk/run 10 meters in \<30 seconds.
  • Able to understand and comply with all study procedures.
  • Sexually active females of childbearing potential and female and male partners of male subjects receiving study intervention must use a barrier method of contraception for the first 6 months after dosing.

You may not qualify if:

  • Significant cardiomyopathy as defined by echocardiogram (left ventricular ejection fraction \<40%), evidence of conduction defect (increased PR and RR intervals, left bundle branch block and QTcF \>480m/sec), NYHA Class 3 or 4 heart failure, or MRI gadolinium enhancement evidence of clinically important myocardial fibrosis.
  • Contraindication to MRI or hypersensitivity to contrast dyes, shellfish or iodine.
  • Implanted spinal rods, cardiac pacemaker or other implantation that would distort cardiac MRI images.
  • History of active, ongoing chronic liver disease (e.g. hepatitis, HIV-related liver disease, hemochromatosis, steatosis, etc.) or abnormal liver function tests (abnormal GGT and/or abnormal total/direct bilirubin \>upper limit of normal \[ULN\] and/or elevated AST and ALT \>2 ULN).
  • Abnormal renal function (GFR \<60 ml/min, using the Modification of Diet in Renal Disease equation).
  • Any life-threatening disease, including malignant neoplasms and medical history or malignant neoplasms within the past 5 years prior to screening (except basal and squamous cell skin cancer).
  • In the opinion of the investigator, a pre-existing medical condition that predisposes the subject to risks that outweighs the potential benefits.
  • Requirement for daytime ventilatory support.
  • Change in glucocorticosteroid treatment within 3 months prior to screening visit.
  • Exposure to another investigational drug within 3 months prior to study treatment or any previous treatment with gene therapy.
  • Ongoing participation in any other therapeutic clinical trial.
  • Neutralizing antibody titer to AAV9 \>1:5.
  • Female subjects who are pregnant, plan to become pregnant in the next 12 months, or breastfeeding.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (6)

University of California - Irvine

Irvine, California, 92697, United States

RECRUITING

University of Iowa

Iowa City, Iowa, 52242, United States

RECRUITING

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

RECRUITING

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

RECRUITING

VCU

Richmond, Virginia, 23298, United States

RECRUITING

University of Washington Medical Center

Seattle, Washington, 98195, United States

RECRUITING

Related Links

MeSH Terms

Conditions

Muscular Dystrophies, Limb-GirdleLimb-girdle muscular dystrophy type 2AMuscular Dystrophy, Limb-Girdle, Type 2IMuscular Dystrophies

Condition Hierarchy (Ancestors)

Muscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

AskFirst Patient Engagement

CONTACT

myTomorrows (see link below in reference section)

CONTACT

Study Design

Study Type
interventional
Phase
phase 1
Allocation
RANDOMIZED
Masking
QUADRUPLE
Who Masked
PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
Purpose
TREATMENT
Intervention Model
SEQUENTIAL
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 27, 2022

First Posted

February 9, 2022

Study Start

May 15, 2023

Primary Completion (Estimated)

December 1, 2028

Study Completion (Estimated)

December 1, 2032

Last Updated

February 20, 2026

Record last verified: 2026-02

Data Sharing

IPD Sharing
Will not share

Locations