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RecruitingNCT06708468PETRA-NMDUpdated Jun 18, 2026

Personalized Training for People With Rare Neuromuscular Disorders

An interventional study of Exercise and Usual Care in Neuromuscular Diseases (NMD), Charcot Marie Tooth Disease (CMT) and Facioscapulohumeral Muscular Dystrophy, sponsored by Oslo University Hospital. Recruiting at 5 sites in Norway. Open to participants aged 18 Years to 70 Years. Per ClinicalTrials.gov, last updated 2026-06-18.

Sponsored by Oslo University Hospital · Not applicable, Interventional, and Treatment

Phase
Not applicable
Study type
Interventional
Enrollment
120
Allocation
Randomized
Ages
18 Years to 70 Years
Sex
All
01

Study 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.

02

Conditions studied

  • 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
03

Who can participate

Ages eligible
18 Years to 70 Years
Sexes eligible
All
Accepts healthy volunteers
No

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

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
04

Study design

Phase
Not applicable
Primary purpose
Treatment
Allocation
Randomized
Intervention model
Parallel assignment
Masking
Single (Outcomes assessor)
Enrollment
120 participants (estimated)

Study arms

  • Experimental
    Intervention

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

    Other: Exercise

  • Active comparator
    Control

    The control group follows usual care

    Other: Usual Care

Interventions

  • OtherExercise

    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

  • OtherUsual Care

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

05

What researchers measure

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.

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

Secondary outcomes

  1. Fatigue severity scale

    Measurements of fatigue, 9 questions on a scale from 1 to 7. And a visual analogue fatigue scale

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

  2. 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.

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

  3. 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)

    Time frame: Baseline, 4-month, 10-month

  4. Dual Energy X-ray Absorptiometry

    body composition from different regions of the body

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

  5. 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.

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

  6. Physical activity

    tri-axial AX3 accelerometers, and monitoring pain, and activity and sleep diaries. Only collected in participants from Helse Sør-Øst.

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

  7. 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.

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

  8. ABC-scale

    Activities- specific balance confidence scale.

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

  9. PROMIS-29

    Questionnaire with 7 domains and a numeric rating scale

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

06

Study locations

2 of 5 sites recruiting
07

References and documents

Individual participant data

Plan to share: Undecided

No publications or documents are linked to this record.

08

Registry details

Key details

Study ID
NCT06708468
Lead sponsor
Oslo University Hospital
Collaborators
Universitetssykehuset i Nord-Norge HF, Norwegian School of Sport Sciences, Namsos Hospital, Frambu Centre for Rare Disorders, Vigør Rehabilitation Hospital, Kastvollen Rehabilitation Centre, Norwegian University of Science and Technology, Haukeland University Hospital, Molde Hospital, Drammen sykehus, Vikersund Bad Rehabiliteringssenter AS, Røde Kors Haugland rehabilitation center
Responsible party
Kristin Ørstavik (head of Section, MD, PhD, Oslo University Hospital) — Principal investigator
First posted
Nov 27, 2024
Start date
Dec 13, 2024
Primary completion
Dec 2027 (estimated)
Completion
Dec 2028 (estimated)
Last update
Jun 18, 2026

Study contacts

Kristin Ørstavik, MD, PhD
Contact
krorstav@ous-hf.no
+4792422126
Hanne L Fossmo, PhD stud
Contact
halufo@ous-hf.no
+4793630606
Kristin Ørstavik, MD, PhD
principal investigator · Oslo University Hospital

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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