The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.

NCT06157268 | Recruiting

• 2 other identifiers: NL83069.000.23W.OR22-10
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 2

Brief Summary

Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies. Not much is known about the natural history and no curative treatment is available for these groups. Also patients report fatigability as one of their symptoms. The goal of this observational study is to study the natural history during 24 months to achieve trial readiness and to study the muscle fatigability in CCD/MmD, NEM and CNM.

Conditions

Central Core Disease; Multi-Minicore Disease; Nemaline Myopathy; Centronuclear Myopathy

Keywords

Natural history study; Outcome measures; Congenital myopathy; Muscle disease

Outcome Measures

Primary Outcomes (2)

• Change of Motor Function Measure (MFM)

  Global motor functioning. The main outcome is the change in MFM score over a period of 2 years. The scores of the patients will also be compared to reference values.

  Change from baseline at 6, 12, 18 and 24 months

• Endurance shuttle test - fatigability part

  Patients walk/move blocks/move pegs at a personalised set speed. The main outcome is if the patient drops out due to the speed being too low. If the patient drops out the time until dropout is noted.

  At assessment 1 or 2 of the fatigability part of the study. Which day is dependent on the preference of the patient and planning possibilities.

Secondary Outcomes (40)

• Change of 6-minute walk test (6MWT) (5 years and older)

  Change from baseline at 6, 12, 18 and 24 months

• Accelerometry - change of extent and intensity of physical activity in daily life (all ages)

  Change from baseline at 6, 12, 18 and 24 months

• Change of bone density (DEXA scan) (6 years and older)

  Change from baseline at 24 months

• Change of graded and timed rise from floor (5 years and older)

  Change from baseline at 6, 12, 18 and 24 months

• Handheld dynamometry (5 years and older)

  Change from baseline at 6, 12, 18 and 24 months

Study Arms (3)

Core myopathies

Patients with a genetically confirmed core myopathy

Other: Natural history and non therapeutical therapy

Nemaline myopathy

Patients with a genetically confirmed nemaline myopathy

Other: Natural history and non therapeutical therapy

Centronuclear myopathy

Patients with a genetically confirmed centronuclear myopathy

Other: Natural history and non therapeutical therapy

Interventions

Natural history and non therapeutical therapy OTHER

This study concerns a natural history study part and a muscle fatigability part. For the natural history study no interventions will be used. For the muscle fatigability part non therapeutical therapies will be used. This includes endurance tests, isokinetic dynamometry and repetitive nerve stimulation.

Centronuclear myopathy; Core myopathies; Nemaline myopathy

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

45 patients will be included in the natural history study and 75 patients in the fatigability study, with some patients in both studies. The participants will be equally divided over three groups (CCD/MmD, NEM, CNM). Patients will be identified through patient databases of the Radboudumc and UMC Utrecht and patient groups. If more than 15/25 patients per group are willing to participate, we will select patients based on age and severity to have a good representation of the entire/complete disease spectrum.

You may qualify if:

• years or older
• Willing and able to complete the measurement protocol
• Willing and able to travel to Nijmegen and Utrecht
• Dutch-speaking
• Genetically-confirmed congenital myopathy (CCD/MmD, NEM, and CNM)
• years old
• Willing and able to complete the measurement protocol
• Willing and able to travel to Nijmegen and Utrecht
• Dutch-speaking
• Genetically-confirmed congenital myopathy (CCD/MmD, NEM, and CNM)
• Willing to stop taking pyridostigmine and/or salbutamol 24 hours before the visit.

You may not qualify if:

• Other neuromuscular, psychiatric or neurological disorders.

Sponsors & Collaborators

• Radboud University Medical Center: lead
• UMC Utrecht: collaborator

Study Sites (2)

Radboudumc

Nijmegen, Gelderland, 6500HB, Netherlands

RECRUITING

UMC Utrecht

Utrecht, 3584 CX, Netherlands

NOT YET RECRUITING

MeSH Terms

Conditions

Myopathy, Central Core; Minicore Myopathy with External Ophthalmoplegia; Myopathies, Nemaline; Myopathies, Structural, Congenital; Myotonia Congenita; Muscular Diseases

Condition Hierarchy (Ancestors)

Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Nicol Voermans, MD PhD

  Radboud University Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Nicol Voermans, MD PhD

CONTACT

+31650155770; Nicol.Voermans@radboudumc.nl

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 9, 2023
• First Posted: December 5, 2023
• Study Start: March 28, 2024
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026
• Last Updated: August 19, 2024

Record last verified: 2024-03

Locations

NL (2)