Personalized Training for People With Rare Neuromuscular Disorders

NCT06708468 | Recruiting

• 1 other identifier: 760722
• Study Type: interventional
• Target: 120
• Locations: 1 country
• Sites: 5

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. 1.To investigate if the intervention group experiences improvements in dynamic balance that are superior to the control group
2. 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. 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.

Conditions

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

Keywords

personalized training; rehabilitation; rare-neuromuscular disorders; motor unit number estimation; neuromuscular ultrasound; dual-energy x-ray absorptiometry; activity tracking; metabolomics; dynamic balance

Outcome Measures

Primary Outcomes (1)

• Dynamic balance assessed using Mini-Balance Evalulation Systems Test (Mini-BESTest)

  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.

  Baseline, 4-month (primary), follow-up at 10-month and 16-month (only interventiongroup)

Secondary Outcomes (9)

• Fatigue severity scale

  Baseline, 4-month, 10-month and 16-month (only intervention-group)

• Clinical measures of strength and function

  Baseline 4-month, 10-month and 16-month (only intervention group)

• Global Metabolomics

  Baseline, 4-month, 10-month

• Dual Energy X-ray Absorptiometry

  4-month, 10-month and 16-month

• Neuromuscular ultrasound

  4-month, 10-month and 16-month

Study Arms (2)

Intervention

EXPERIMENTAL

The experimental group receives four-months of exercise-based intervention

Other: Exercise

Control

ACTIVE COMPARATOR

The control group follows usual care

Other: Usual Care

Interventions

Exercise OTHER

The intervention includes 12-day personalized exercise program set in a rehabilitation center, followed by a three-month digital intervention and then a second 12-day personalized exercise program in a rehabilitation center.

Also known as: Personalized Exercise

Intervention

Usual Care OTHER

Usual care includes appointments at hospitals and in the community health system according to what has been recommended to that individual

Control

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• A confirmed diagnosis of either FSHD, DM1 or CMT
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Oslo University Hospital: lead
• Universitetssykehuset i Nord-Norge HF: collaborator
• Norwegian School of Sport Sciences: collaborator
• Namsos Hospital: collaborator
• Frambu Centre for Rare Disorders: collaborator
• Vigør Rehabilitation Hospital: collaborator
• Kastvollen Rehabilitation Centre: collaborator
• Norwegian University of Science and Technology: collaborator
• Haukeland University Hospital: collaborator
• Molde Hospital: collaborator
• Drammen sykehus: collaborator
• Vikersund Bad Rehabiliteringssenter AS: collaborator
• Røde Kors Haugland rehabilitation center: collaborator

Study Sites (5)

Haukeland University Hospital

Bergen, 5021, Norway

NOT YET RECRUITING

Helse Møre and Romsdal HF (Molde Hospital)

Molde, Norway

NOT YET RECRUITING

Namsos Hospital

Namsos, 7803, Norway

NOT YET RECRUITING

Oslo University Hospital

Oslo, 0424, Norway

RECRUITING

University Hospital of North Norway

Tromsø, 9038, Norway

RECRUITING

MeSH Terms

Conditions

Neuromuscular Diseases; Charcot-Marie-Tooth Disease; Muscular Dystrophy, Facioscapulohumeral; Myotonic Dystrophy

Interventions

Exercise

Condition Hierarchy (Ancestors)

Nervous System Diseases; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders

Intervention Hierarchy (Ancestors)

Motor Activity; Movement; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Study Officials

• Kristin Ørstavik, MD, PhD

  Oslo University Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kristin Ørstavik, MD, PhD

CONTACT

+4792422126; krorstav@ous-hf.no

Hanne L Fossmo, PhD stud

CONTACT

+4793630606; halufo@ous-hf.no

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Masking Details: The evaluators will be blinded to the treatment group of the participants. It is not possible to blind the participants themselves; however, they will be asked not to share their group allocation with the others, including the evaluators. A staff member may unblind the intervention assignment for any participant with a serious adverse event.
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: head of Section, MD, PhD

Model Details: This is a multi-site randomized control trial with two study arms - interventional and control group that will be investigated pre-and-post four-month intervention, and at 10-month and 16-month for follow-up. The participants will involve three different rare-NMDs (CMT, FSHD, DM1) from the four health regions of Norway - South-Eastern, Northern, Central, and Western. The participants will be randomly allocated to either the intervention or control group. The interventional group will undergo a personalized four month exercise training program at a rehabilitation centre followed by at-home digital exercises; whereas, the control group will receive usual care. The two groups will be stratified by study site, diagnosis and sex.

Study Record Dates

• First Submitted: November 22, 2024
• First Posted: November 27, 2024
• Study Start: December 13, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2028
• Last Updated: April 27, 2025

Record last verified: 2025-04

Locations

NO (5)