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NCT Number: NCT06708468

Personalized Training for People With Rare Neuromuscular Disorders

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.

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Key information

Conditions

Neuromuscular Diseases (NMD) Charcot Marie Tooth Disease (CMT) Charcot-Marie-Tooth Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Facioscapulohumeral Muscular Dystrophy Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Facioscapulohumeral Musculoskeletal Diseases Myotonic Disorders Myotonic Dystrophy Myotonic Dystrophy Type 1 (DM1) Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies

Age range

18 year–70 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Haukeland University Hospital, Bergen, Norway

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Other names: Personalized Exercise

Usual Care

Other

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

Primary outcomes

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

    Time frame: 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 outcomes

  1. Fatigue severity scale

    Time frame: 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

  2. Clinical measures of strength and function

    Time frame: 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.

  3. Global Metabolomics

    Time frame: 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)

  4. Dual Energy X-ray Absorptiometry

    Time frame: 4-month, 10-month and 16-month

    body composition from different regions of the body

  5. Neuromuscular ultrasound

    Time frame: 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.

  6. Physical activity

    Time frame: 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.

  7. Motor unit number estimation

    Time frame: 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.

  8. ABC-scale

    Time frame: Basleine, 4 month, 10 month, 16 month (only intervention group)

    Activities- specific balance confidence scale.

  9. PROMIS-29

    Time frame: Baseline, 4 month, 10 month and 16 month (only intervention group)

    Questionnaire with 7 domains and a numeric rating scale

Study contacts

Contact information is provided by the study sponsor or research team.

Hanne L Fossmo, PhD stud

CONTACT

[email protected]

+4793630606

Kristin Ørstavik, MD, PhD

CONTACT

[email protected]

+4792422126

Sponsors and collaborators

Lead sponsor

Oslo University Hospital

Other

Collaborators

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

Registry information

Official study title

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.

Acronym: PETRA-NMD

Important dates

Study start
2024
Primary completion
2027
Study completion
2028
First posted
Nov 27, 2024
Registry last updated
Jun 18, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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