Personalized Training for People With Rare Neuromuscular Disorders

Not Applicable

Recruiting

• Conditions: Neuromuscular Diseases (NMD); Charcot Marie Tooth Disease (CMT); Facioscapulohumeral Muscular Dystrophy; Myotonic Dystrophy Type 1 (DM1)

• Registration Number: NCT06708468
• Lead Sponsor: Oslo University Hospital

Brief Summary

The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders: Charcot-Marie-Tooth (CMT), Facioscapulohumeral Muscular Dystrophy (FSHD), and Myotonic Dystrophy Type 1 (DM1).

The key objectives are:

1. To investigate if the intervention group experiences improvements in dynamic balance that are superior to the control group

2. To investigate if the intervention group experiences long-term improvements in dynamic balance that are superior to the control group during the follow-up

3. To investigate if improvements in dynamic balance are associated with improvements in physical activity, body composition, estimated motor units, metabolomics, muscle echnogenecity and volume, and other indicators of health and quality of life.

This is a national study and will involve 120 individuals with rare-neuromuscular disorders from Norway's four health regions.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-11-22
• Study First Submitted QC: 2024-11-25
• Study First Posted: 2024-11-27
• Study Start: 2024-12-13
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-23
• Last Update Posted: 2025-04-27
• Primary Completion: 2026-12
• Study Completion: 2028-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 120

Inclusion Criteria

• A confirmed diagnosis of either FSHD, DM1 or CMT
• 18-70 years of age at the time of signing the informed consent.
• Any gender
• Ability to stand, rise from a chair and walk at least 10 meters with or without any need of assistive devices
• Indication for rehabilitation as confirmed by the treating neurologist or physiotherapist
• Ability to understand and follow instructions in Norwegian
• Capable of giving signed informed consent

Exclusion Criteria

• Pregnancy or planning to become pregnant
• Any other neurological or non-neurological disorders affecting physical capacity, such as disabling arthritis, severe heart-failure/cardiomyopathy, on-going cancer treatment
• Alcohol or drug abuse as per their medical chart
• History of non-compliance to medical advice/follow-up

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
Dynamic balance assessed using Mini-Balance Evalulation Systems Test (Mini-BESTest)	Baseline, 4-month (primary), follow-up at 10-month and 16-month (only interventiongroup)	The primary outcome measure will be change in dynamic balance from pre-intervention to post-intervention. In addition, there will be two follow-up assessments.

Secondary Outcome Measures

Name	Time	Method
Fatigue severity scale	Baseline, 4-month, 10-month and 16-month (only intervention-group)	Measurements of fatigue, 9 questions on a scale from 1 to 7. And a visual analogue fatigue scale
Global Metabolomics	Baseline, 4-month, 10-month	dried blood samples for extracting signal metabolites of known importance in characterizing the metabolic status (e.g. lactate, amino acids, and fatty acids)
Dual Energy X-ray Absorptiometry	4-month, 10-month and 16-month	body composition from different regions of the body
Physical activity	4-month, 10-month and 16-month	tri-axial AX3 accelerometers, and monitoring pain, and activity and sleep diaries. Only collected in participants from Helse Sør-Øst.
ABC-scale	Basleine, 4 month, 10 month, 16 month (only intervention group)	Activities- specific balance confidence scale.
PROMIS-29	Baseline, 4 month, 10 month and 16 month (only intervention group)	Questionnaire with 7 domains and a numeric rating scale
Clinical measures of strength and function	Baseline 4-month, 10-month and 16-month (only intervention group)	manual muscle testing, 30-s sit-to-stand, functional strength of neck and trunk, arm and hand function (9-HPT, Box and Block), walking function (10-mWT and 100-mTT), grip and pinch strength using dynamometers.
Neuromuscular ultrasound	4-month, 10-month and 16-month	Ultrasound imaging of selected muscles in the trunk, upper- and lower extremities scored using visual and/or quantitative grey-scale echogenicity analysis tools. Only collected in participants with FSHD and DM1.
Motor unit number estimation	Baseline 4-month, 10-month and 16-month (only intervention-group)	Estimating the number of motor units using non-invasive peripheral nerve stimulation and surface electromyography recordings. Only for participants with CMT at Helse Sør-Øst.

Trial Locations

Locations (5)

Haukeland University Hospital; 🇳🇴 Bergen, Norway

Helse Møre and Romsdal HF (Molde Hospital); 🇳🇴 Molde, Norway

Namsos Hospital; 🇳🇴 Namsos, Norway

Oslo University Hospital; 🇳🇴 Oslo, Norway

University Hospital of North Norway; 🇳🇴 Tromsø, Norway