Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03842878

Enrollment

Registered

2019-02-15

Start date

2020-02-19

Completion date

2023-12-14

Last updated

2026-02-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

LGMD2I

Brief summary

Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I disease physiopathology. The duration of participation for each patient will be up to 24 months.

Detailed description

Study duration Duration from First visit of first patient (FPFV) to Last visit of last patient (LPLV) : 3 years Study objectives Primary objective: To characterize the disease course in Limb-Girdle Muscular Dystrophy 2I (LGMD2I) patients using standardized and disease appropriate evaluations. Secondary objectives: To identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2I To identify the best outcome measure for further therapeutics approaches

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

16 Years to 99 Years

Healthy volunteers

Inclusion criteria

1. Female and male patients 2. Patients ≥ 16 years old 3. Clinical diagnosis of LGMD2I and gene testing demonstrating two pathogenic mutations in fukutin-related protein gene, FKRP) 4. Ambulant patients

Exclusion criteria

1\. Patients presenting other disease which may significantly interfere with the interpretation of LGMD2I natural history

Design outcomes

Primary

Measure	Time frame	Description
Isokinetic muscle testing using the Biodex System (optional)	Baseline through 24 months	Primary endpoint
Pulmonary function test	Baseline through 24 months	Primary endpoint
Electrocardiogram	Baseline through 24 months	Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
Recording of aids for ambulation	Baseline through 24 months	Primary endpoint
6-Minute Walk Test	Baseline through 24 months	Primary endpoint
10-Meter Walk test (10MWT)	Baseline through 24 months	Primary endpoint
Timed Up and Go (TUG) test	Baseline through 24 months	Primary endpoint
Four-stair climb test	Baseline through 24 months	Primary endpoint
North Star Assessment for Neuromuscular Disorders (NSAD)	Baseline through 24 months	Scale to assess patient's abilities necessary to remain functionnaly ambulant
Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0	Baseline through 24 months	Primary endpoint
Echocardiography	Baseline through 24 months	Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy

Countries

Denmark, France, United Kingdom

Contacts

PRINCIPAL_INVESTIGATORJohn Vissing, PR

Professor of neurology

Outcome results