Personalized Training for People With Rare Neuromuscular Disorders (PETRA-NMD)

Personalized Exercise Training for People With Rare Neuromuscular Disorders: a Multi-center, Evaluator-blinded, Two Arm, Randomized Controlled Study to Assess the Effects on Physical Function From Personalized Strength and Balance Exercise in a Rehabilitation Setting.

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.

Study Overview

• Status: Recruiting
• Conditions: Facioscapulohumeral Muscular Dystrophy; Myotonic Dystrophy Type 1 (DM1); Charcot Marie Tooth Disease (CMT); Neuromuscular Diseases (NMD)
• Intervention / Treatment: Other: Exercise; Other: Usual Care

• Study Type: Interventional
• Enrollment (Estimated): 120
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Kristin Ørstavik, MD, PhD; Phone Number: +4792422126; Email: krorstav@ous-hf.no
• Study Contact Backup: Name: Hanne L Fossmo, PhD stud; Phone Number: +4793630606; Email: halufo@ous-hf.no

Study Locations

• Norway
  • Bergen, Norway, 5021
    • Not yet recruiting
    • Haukeland University Hospital
    • Contact: Kristin N Varhaug; Email: kristin.nielsen.varhaug@helse-bergen.no
  • Molde, Norway
    • Not yet recruiting
    • Helse Møre and Romsdal HF (Molde Hospital)
    • Contact: Åse H Morsund; Email: ase.hagen.morsund@helse-mr.no
  • Namsos, Norway, 7803
    • Not yet recruiting
    • Namsos Hospital
    • Contact: Kristina Devik; Email: kristina.devik@helse-nordtrondelag.no
  • Oslo, Norway, 0424
    • Recruiting
    • Oslo University Hospital
    • Contact: Hanne L Fossmo, PhD stud; Phone Number: +4793630606; Email: halufo@ous-hf.no
    • Contact: Kristin Ørstavik, MD PhD; Phone Number: +4792422126; Email: krorstav@ous-hf.no
    • Sub-Investigator: Tarun Arora, PhD
    • Sub-Investigator: Kristian B Nilsen, MD PhD
    • Sub-Investigator: Katja P Elgstøen, PhD
  • Tromsø, Norway, 9038
    • Recruiting
    • University Hospital of North Norway
    • Contact: Kjell A Arntzen, MD PhD; Email: Kjell.Arne.Arntzen@unn.no
    • Contact: Cathrine Ramberg, PhD; Email: Cathrine.Ramberg@unn.no

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: Single

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Intervention; The experimental group receives four-months of exercise-based intervention	Other: Exercise; 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.; Other Names: Personalized Exercise
Active Comparator: Control; The control group follows usual care	Other: Usual Care; Usual care includes appointments at hospitals and in the community health system according to what has been recommended to that individual

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Fatigue severity scale	Measurements of fatigue, 9 questions on a scale from 1 to 7. And a visual analogue fatigue scale	Baseline, 4-month, 10-month and 16-month (only intervention-group)
Clinical measures of strength and function	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.	Baseline 4-month, 10-month and 16-month (only intervention group)
Global Metabolomics	dried blood samples for extracting signal metabolites of known importance in characterizing the metabolic status (e.g. lactate, amino acids, and fatty acids)	Baseline, 4-month, 10-month
Dual Energy X-ray Absorptiometry	body composition from different regions of the body	4-month, 10-month and 16-month
Neuromuscular ultrasound	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.	4-month, 10-month and 16-month
Physical activity	tri-axial AX3 accelerometers, and monitoring pain, and activity and sleep diaries. Only collected in participants from Helse Sør-Øst.	4-month, 10-month and 16-month
Motor unit number estimation	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.	Baseline 4-month, 10-month and 16-month (only intervention-group)
ABC-scale	Activities- specific balance confidence scale.	Basleine, 4 month, 10 month, 16 month (only intervention group)
PROMIS-29	Questionnaire with 7 domains and a numeric rating scale	Baseline, 4 month, 10 month and 16 month (only intervention group)

Collaborators and Investigators

• Sponsor: Oslo University Hospital
• Collaborators: Norwegian University of Science and Technology; Haukeland University Hospital; Namsos Hospital; Molde Hospital; Norwegian School of Sport Sciences; Drammen sykehus; Røde Kors Haugland rehabilitation center; Universitetssykehuset i Nord-Norge HF; Frambu Centre for Rare Disorders; Vigør Rehabilitation Hospital; Kastvollen Rehabilitation Centre; Vikersund Bad Rehabiliteringssenter AS
• Investigators: Principal Investigator: Kristin Ørstavik, MD, PhD, Oslo University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): December 13, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2028

Study Registration Dates

• First Submitted: November 22, 2024
• First Submitted That Met QC Criteria: November 25, 2024
• First Posted (Actual): November 27, 2024

Study Record Updates

• Last Update Posted (Actual): April 27, 2025
• Last Update Submitted That Met QC Criteria: April 23, 2025
• Last Verified: April 1, 2025

More Information

Terms related to this study

• Keywords: rehabilitation; dynamic balance; metabolomics; dual-energy x-ray absorptiometry; activity tracking; neuromuscular ultrasound; personalized training; rare-neuromuscular disorders; motor unit number estimation
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Stomatognathic Diseases; Nervous System Diseases; Muscular Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neurodegenerative Diseases; Congenital Abnormalities; Heredodegenerative Disorders, Nervous System; Muscular Disorders, Atrophic; Nervous System Malformations; Polyneuropathies; Myotonic Disorders; Muscular Dystrophies; Myotonic Dystrophy; Tooth Diseases; Charcot-Marie-Tooth Disease; Nerve Compression Syndromes; Hereditary Sensory and Motor Neuropathy; Muscular Dystrophy, Facioscapulohumeral; Neuromuscular Diseases
• Other Study ID Numbers: 760722

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No