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NCT Number: NCT05102916

Swiss Registry for Neuromuscular Disorders

The Swiss Patient Registry for DMD/BMD and SMA was launched in 2008 in order to give Swiss patients access to new therapies. It was founded with the financial support of several patient organizations and research foundations. Since 2008, children, adolescents and adults with DMD, BMD and SMA are registered with the help of all major muscle centers in Switzerland. After nearly ten years of activity, the Swiss Patient Registry for DMD/BMD and SMA implemented several adaptations in 2018 to meet current and future expectations of patient's organizations, health authorities and research organizations.

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Key information

Conditions

SMA BMD Congenital Muscular Dystrophy DMD IMD

Age range

0 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Pediatric Institute of Southern Switzerland, Ospedale San Giovanni, Bellinzona, Canton Ticino, Switzerland

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About this study

Background:

The 'Swiss registry for neuromuscular disorders' (Swiss-Reg-NMD) collects medical information from people with neuromuscular disorders. It is led by specialized physicians from all over Switzerland and located at the Institute of Social and Preventive Medicine (ISPM) in Bern. The registry includes children and adults living or treated in Switzerland who are diagnosed with Duchenne-Becker Muscular Dystrophy (DMD/BMD), Spinal Muscular Atrophy (SMA), merosin-deficient muscular dystrophy also called LAMA2-related muscular dystrophy (MDC1A respectively LAMA2) ) and Collagen 6 related muscular dystrophy.

The Swiss Registry for neuromuscular disorders was initially founded in 2008 to give Swiss patients with a neuromuscular disease access to new therapies. In 2018, the registry was reorganized to meet new legal requirements and expectations of patients and research organizations. The Swiss Ethics Commission approved the project (project ID: 2018-00289, observational study, risk category A).

NMDs are rare diseases with few patients scattered across the country. A national patient registry with a centralized registration facilitates the participation of Swiss patients in therapeutic trials and the creation of Swiss trial sites.

Objectives:

Primary objectives of the Swiss-Reg-NMD project are:

  • Establish a representative population-based Swiss cohort of children, adolescents and adults with NMDs
  • Provide epidemiological data to investigate the incidence, prevalence, spectrum of diagnosis, survival rates and mortality of NMDs in Switzerland
  • Provide a platform for clinical research:
  • Offer a resource to recruit Swiss patients in current and future national and international therapeutic trials or observational studies
  • Offer a resource to facilitate the establishment of therapeutic trial sites in Switzerland
  • Answer questions in the following areas: health, health care, social-, educational-, professional-, economic aspects, and quality of life
  • Offer a resource for post-marketing surveillance (effects and side effects of therapies/treatments)
  • Provide a platform for communication:
  • Promote the exchange of knowledge between clinics, researchers, therapists and national and cantonal health authorities in particular regarding standards of care
  • Facilitate national and international collaborations, in particular with the international registry of TREAT-NMD and the upcoming Swiss Registry for Rare Diseases

Inclusion/exclusion criteria:

All children, adolescents and adults living or treated in Switzerland who are diagnosed with a NMD. The diagnosis needs to be confirmed, whenever possible, by genetic testing, or at least by biopsy and/or electroneuromyography, according to international standards for the diagnosis of the given NMD. Once the diagnosis is established, there is no specific exclusion criteria.

Currently, patients with SMA, DMD/BMD, merosin-deficient muscular dystrophy also called LAMA2-related muscular dystrophy (MDC1A respectively LAMA2) and Collagen 6 related muscular dystrophy are included.

Procedure:

After a NMD diagnosis, the treating physician informs the patient and the parents (if the patient is still a child) during a consultation in a clinic or practice in writing and orally about the Swiss-Reg-NMD. The patient/parents who wish to participate sign the consent form and the patient is registered in the Swiss-Reg-NMD. If the patient/parents do not wish to participate, only a minimal anonymous data set is recorded.

The following data will be collected:

  • Medical data
  • Data from questionnaires for patients and families
  • Data from links to routine statistics and other medical registries

Clinical data (report of new cases and follow-up reports): NMD subtype, severity, and associated conditions; Comorbidities; Medical care and medication; Therapies; (Serious) adverse events; Hospitalisations; Motor Function Assessments; Socio-demographic characteristics.

Questionnaire data: We will collect data through questionnaires with a focus on (but not exclusively):

  • Health related questions like nutrition, sleep, pain
  • Health behaviours (e.g., physical activity, smoking)
  • Medical equipment use (type, usage, satisfaction)
  • Treatments and therapies: frequency, intensity, start, types
  • Quality of life and participation (involvement in a life situation)
  • Social-economic factors
  • Education (early childhood education, school, professional integration)
  • Patient/caregiver reported outcomes
  • Needs and concerns of persons with NMDs and their families

Routine data and linkages: e.g. Federal Statistical Office (e.g. birth registry, cause of death statistics, hospital statistics); Swiss National Cohort (socioeconomic data, family information); other medical registries (e.g. rare disease registry); Communities of residence (vital status, date of death, address).

Funding:

Schweizerische Muskelgesellschaft; ASRIMM, Association Suisse Romande Intervenant contre les Maladies neuromusculaire; MGR, Associazione malattie genetiche rare della svizzera italiana; fsrmm, schweizerische stiftung für die erforschung der muskelkrankheiten; SMA Schweiz; Duchenne Schweiz; Amicus Therapeutics; Avexis; Biogen; ITF Pharma; Novartis; Pfizer, PTC Therapeutics; Roche; Sanofi; Sarepta.

Data protection:

Data generation, transmission, storage and analysis of health related personal data within this project will follow strictly the current Swiss legal requirements for data protection. Data analyses will always be done using pseudonymised datasets. Health related personal data captured during this project are strictly confidential. Project data shall be handled with uttermost discretion and only be accessible to authorized personnel. Direct access to source documents will be permitted for purposes of monitoring, audits or inspections. The data protection concept of ISPM ensures the secure handling of all sensitive data at ISPM and within Swiss-Reg-NMD. The Swiss-Reg-NMD team is responsible for the implementation and compliance with the confidentiality and data security measures.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Children, adolescents and adults diagnosed with a NMD
  • Who are living or treated for a NMD in Switzerland, and
  • Who gave informed consent

Exclusion criteria

  • None if diagnosis is confirmed, whenever possible, by genetic testing, or at least by biopsy and/or electroneuromyography, according to international standards for the diagnosis of the given NMD.

Treatment and study plan

Primary outcomes

  1. Personal data

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering and updating patients personal data

  2. Initial symptoms

    Time frame: At diagnosis

    Initial symptoms

  3. Age at initial symptoms and diagnosis

    Time frame: At diagnosis

    Age at initial symptoms and diagnosis

  4. Family history

    Time frame: At diagnosis

    Other affected family members

  5. Investigations

    Time frame: At diagnosis

    Type of investigations for diagnosis

  6. Diagnosis

    Time frame: At diagnosis

    Mutation

  7. Change of living status

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Date of death

  8. Change of living status II

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Cause of death

  9. Change in height

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering height

  10. Change in weight

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering weight

  11. Change in head circumference

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering head circumference

  12. Change in motor development and motor functions

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering motor development and function (motor function scales)

  13. Change in musculoskeletal system

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Assessing change in musculoskeletal system over time

  14. History of surgeries

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering surgeries

  15. Change in cardiac function

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering cardiac function

  16. Change in pulmonary function

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering pulmonary function

  17. Change in nutritional habits

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering feeding habits

  18. Change in cognition

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Assessing mental ability using tests, including language

  19. Change in education

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering type of education

  20. Change in therapies

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering therapies

  21. Change in orthopaedic situation

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Assessing use of orthopaedic resources

  22. Change in treatments

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering treatments

  23. Change in side effects

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering side effects of treatments

  24. Change in comorbidities

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering comorbidities

  25. History of hospitalizations

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering hospitalizations

  26. Change in disease specific markers

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering change in disease specific markers

  27. Change in epilepsy

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering epilepsy

  28. History of participation in clinical trials and research studies

    Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)

    Registering participation in current/past clinical trials and research studies

  29. Questionnaire data

    Time frame: 0-80 years

    Questionnaires focusing on specific research questions (Health-related questions, health behavior, medical equipment, treatments and therapies, quality of life, participation, social-economic factors, academic information, patient/caregiver reported outcomes, needs, concerns)

Study contacts

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

Claudia E Kuehni, Prof. MD

CONTACT

[email protected]

+41 (0)31 684 35 07

Sponsors and collaborators

Lead sponsor

University of Bern

Other

Collaborators

  • Ente Ospedaliero Cantonale, Bellinzona
  • Insel Gruppe AG, University Hospital Bern
  • SwissPedNet
  • University Children's Hospital Basel
  • University Children's Hospital, Zurich
  • University Hospital, Zürich
  • University of Lausanne Hospitals

Registry information

Official study title

Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD)

Acronym: Swiss-Reg-NMD

Important dates

Study start
2018
Primary completion
2071
Study completion
2071
First posted
Nov 2, 2021
Registry last updated
Jan 15, 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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