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

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

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.

Study Overview

• Status: Recruiting
• Conditions: Congenital Muscular Dystrophy; SMA; DMD; BMD; IMD

Detailed Description

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:

1. Establish a representative population-based Swiss cohort of children, adolescents and adults with NMDs
2. Provide epidemiological data to investigate the incidence, prevalence, spectrum of diagnosis, survival rates and mortality of NMDs in Switzerland

3. Provide a platform for clinical research:

   1. Offer a resource to recruit Swiss patients in current and future national and international therapeutic trials or observational studies
   2. Offer a resource to facilitate the establishment of therapeutic trial sites in Switzerland
   3. Answer questions in the following areas: health, health care, social-, educational-, professional-, economic aspects, and quality of life
   4. Offer a resource for post-marketing surveillance (effects and side effects of therapies/treatments)

4. Provide a platform for communication:

   1. Promote the exchange of knowledge between clinics, researchers, therapists and national and cantonal health authorities in particular regarding standards of care
   2. 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.

• Study Type: Observational
• Enrollment (Estimated): 2000

Contacts and Locations

• Study Contact: Name: Claudia E Kuehni, Prof. MD; Phone Number: +41 (0)31 684 35 07; Email: swiss-reg-nmd.ispm@unibe.ch

Study Locations

• Switzerland
  • Basel, Switzerland
    • Recruiting
    • University Hospital Basel
    • Contact: Janina Wendebourg, Dr. med.
  • Basel, Switzerland
    • Recruiting
    • University Children's Hospital Basel
    • Contact: Andrea Klein, Prof. MD
  • Bern, Switzerland
    • Recruiting
    • Inselspital Bern
    • Contact: Olivier Scheidegger, Prof. MD
  • Bern, Switzerland
    • Recruiting
    • Institute of Social and Preventive Medicine (ISPM), University of Bern
    • Contact: Claudia E Kuehni, Prof. MD; Phone Number: +41 31 684 35 07; Email: swiss-reg-nmd.ispm@unibe.ch
  • Bern, Switzerland
    • Recruiting
    • Inselspital Bern, Children's Hospital
    • Contact: Andrea Klein, Prof. MD
  • Geneva, Switzerland
    • Recruiting
    • University Hospitals of Geneva
    • Contact: Agustina Lascano, PD Dr. med.
  • Geneva, Switzerland
    • Recruiting
    • University Hospitals of Geneva, Children's Hospital
    • Contact: Joel Fluss, PD Dr. med.
  • Lucerne, Switzerland
    • Recruiting
    • Cantonal Hospital of Lucerne LUKS
    • Contact: Mareike Schimmel, Dr. med.
  • Lucerne, Switzerland
    • Recruiting
    • Private Practice Alpenquai
    • Contact: Petra Kolditz, Dr.med.
  • Lucerne, Switzerland
    • Recruiting
    • Cantonal Hospital of Lucerne, LUKS
    • Contact: Violeta Mihaylova, PD Dr. med.
  • Sankt Gallen, Switzerland
    • Recruiting
    • Cantonal Hospital of Eastern Switzerland
    • Contact: Christoph Neuwirth, PD Dr. med.
  • Sankt Gallen, Switzerland
    • Recruiting
    • Children's Hospital of Eastern Switzerland
    • Contact: Philip Broser, PD Dr. med.
  • Zurich, Switzerland
    • Recruiting
    • University Hospital Zuerich, Children's Hospital
    • Contact: Georg Stettner, PD Dr. med.
  • Zurich, Switzerland
    • Recruiting
    • University Hospital Zuerich
    • Contact: Hans Jung, Prof. MD
  • Canton Ticino
    • Bellinzona, Canton Ticino, Switzerland
      • Recruiting
      • Pediatric Institute of Southern Switzerland, Ospedale San Giovanni
      • Contact: Barbara Goeggel Simonetti, PD Dr. med.
    • Lugano, Canton Ticino, Switzerland
      • Recruiting
      • Neuro Centre of Italian Switzerland, Ospedale Regionale di Lugano
      • Contact: Paolo Ripellino, Dr. med.
  • Canton of Aargau
    • Aarau, Canton of Aargau, Switzerland
      • Recruiting
      • Cantonal Hospital Aarau
      • Contact: Christina Rüsch, Dr. med.
  • Vaude
    • Lausanne, Vaude, Switzerland
      • Recruiting
      • University Hospital Lausanne CHUV, Children's Hospital
      • Contact: David Jacquier, Dr. med.
    • Lausanne, Vaude, Switzerland
      • Recruiting
      • University Hospital Lausanne CHUV
      • Contact: Stefano Carda, Dr. med.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

All individuals living or treated in Switzerland with a diagnosis of a NMD. Currently, Spinal muscular atrophy, Duchenne muscular dystrophy, Merosin negative congenital muscular dystrophy MDC1A and Collagen 6 related muscular dystrophy are included. In the future, patients with other NMDs (e.g. Charcot-Marie-Tooth neuropathy, Myotonic Dystrophy or rare myopathies) may also be included if it appears relevant to clinicians and researchers active in the field of NMDs, patient organisations, and public health representatives.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Patient population; Children, adolescents and adults diagnosed with a NMD (DMD/BMD/IMD; SMA; COL-6; LAMA-2) who are treated or living in Switzerland.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Personal data	Registering and updating patients personal data	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Initial symptoms	Initial symptoms	At diagnosis
Age at initial symptoms and diagnosis	Age at initial symptoms and diagnosis	At diagnosis
Family history	Other affected family members	At diagnosis
Investigations	Type of investigations for diagnosis	At diagnosis
Diagnosis	Mutation	At diagnosis
Change of living status	Date of death	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change of living status II	Cause of death	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in height	Registering height	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in weight	Registering weight	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in head circumference	Registering head circumference	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in motor development and motor functions	Registering motor development and function (motor function scales)	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in musculoskeletal system	Assessing change in musculoskeletal system over time	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
History of surgeries	Registering surgeries	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in cardiac function	Registering cardiac function	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in pulmonary function	Registering pulmonary function	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in nutritional habits	Registering feeding habits	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in cognition	Assessing mental ability using tests, including language	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in education	Registering type of education	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in therapies	Registering therapies	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in orthopaedic situation	Assessing use of orthopaedic resources	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in treatments	Registering treatments	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in side effects	Registering side effects of treatments	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in comorbidities	Registering comorbidities	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
History of hospitalizations	Registering hospitalizations	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in disease specific markers	Registering change in disease specific markers	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Change in epilepsy	Registering epilepsy	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
History of participation in clinical trials and research studies	Registering participation in current/past clinical trials and research studies	Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Questionnaire data	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)	0-80 years

Collaborators and Investigators

• Sponsor: University of Bern
• Collaborators: University of Lausanne Hospitals; University Children's Hospital, Zurich; University Hospital, Zürich; Ente Ospedaliero Cantonale, Bellinzona; University Children's Hospital Basel; Insel Gruppe AG, University Hospital Bern; SwissPedNet - Swiss Research Network of Clinical Pediatric Hubs
• Investigators: Principal Investigator: Claudia E Kuehni, Prof. MD, Institute of Social and Preventive Medicine (ISPM), University of Bern

Publications and helpful links

Helpful Links

• Website of the registry

Study record dates

Study Major Dates

• Study Start (Actual): June 20, 2018
• Primary Completion (Estimated): January 1, 2071
• Study Completion (Estimated): January 1, 2071

Study Registration Dates

• First Submitted: October 20, 2021
• First Submitted That Met QC Criteria: November 1, 2021
• First Posted (Actual): November 2, 2021

Study Record Updates

• Last Update Posted (Actual): January 15, 2026
• Last Update Submitted That Met QC Criteria: January 13, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: DMD; CMD; BMD; SMA; IMD; LAMA2; NMD; COL-6
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Genetic Diseases, Inborn; Muscular Disorders, Atrophic; Muscular Dystrophies; Neuromuscular Diseases
• Other Study ID Numbers: 2018-00289

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Researchers who wish to develop a nested study need to submit a proposal to the Swiss-Reg-NMD and request permission. A concept sheet describing the planned analyses must be approved by the Swiss-Reg-NMD Steering Board. Nested studies might need separate ethics permission.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No