A study to understand the early stages of muscle weakness in people with Dysferlinopathy (a type of limb girdle muscular dystrophy)

COS-PREPARED: Clinical Outcome Study in PRe- and Early-symptomatic PAtients with REcessive Dysferlinopathy

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN83128058

Enrollment

Registered

2025-10-27

Start date

2025-07-07

Completion date

Unknown

Last updated

2025-11-24

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

Conditions

Limb Girdle Muscular Dystrophy R2 (LGMDR2, Dysferlinopathy) Musculoskeletal Diseases

Interventions

Participants will visit the research centre once a year for up to five years. Each visit will include: -Physical Examination -Respiratory Assessment -Vital Signs -Functional Assessments -Care Discuss

Eligibility

Sex/Gender

All

Age

4 Years to 65 Years

Inclusion criteria

Inclusion criteria: 1. Genetically confirmed recessive Dysferlinopathy (LGMDR2), proven by two pathogenic or likely pathogenic variants in the DYSF gene 2. Pre-symptomatic or early-symptomatic individuals (able to stand on tiptoes on both feet and hop with foot clearance) 3. Able to perform all study assessments including muscle MRI and gait analysis 4. Able to attend scheduled annual visits and follow study procedures

Exclusion criteria

Exclusion criteria: 1. Current or planned medical or other interventions that could interfere with study assessments 2. Presence of another condition that could affect participation or study results, as judged by the investigator 3. Participation in a clinical trial that could alter the natural course of the disease

Design outcomes

Primary

Measure	Time frame
Muscle strength, function, and pathology measured using North Star Assessment for Limb Girdle Muscular Dystrophies (NSAD), timed functional tests (e.g., 100-metre walk/run), handheld dynamometry, and quantitative muscle MRI (3-point Dixon fat fraction and T2 mapping) at baseline and annually for up to 5 years	—

Secondary

Measure	Time frame
1. Gait parameters (velocity, step length, symmetry, and muscle activation) measured using instrumented gait analysis with motion capture and surface electromyography at baseline and annually for up to 5 years 2. Activity limitation and participation measured using ACTIVLIM questionnaire at baseline and annually for up to 5 years 3. Fatigue and pain levels measured using Fatigue Severity Scale (FSS), PROMIS Fatigue, and Short-Form McGill Pain Questionnaire (SF-MPQ) at baseline and annually for up to 5 years 4. Respiratory function measured using Forced Vital Capacity (FVC) and FEV1 in sitting and lying positions at baseline and annually for up to 5 years	—

Measure

Time frame

1. Gait parameters (velocity, step length, symmetry, and muscle activation) measured using instrumented gait analysis with motion capture and surface electromyography at baseline and annually for up to 5 years 2. Activity limitation and participation measured using ACTIVLIM questionnaire at baseline and annually for up to 5 years 3. Fatigue and pain levels measured using Fatigue Severity Scale (FSS), PROMIS Fatigue, and Short-Form McGill Pain Questionnaire (SF-MPQ) at baseline and annually for up to 5 years 4. Respiratory function measured using Forced Vital Capacity (FVC) and FEV1 in sitting and lying positions at baseline and annually for up to 5 years

—

Countries

England, United Kingdom

Contacts

Public ContactHeather Hilsden

Heather.Hilsden@newcastle.ac.uk+44 191 241 8635

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026