Swiss Registry for Neuromuscular Disorders
Swiss-Reg-NMD
1 other identifier
observational
2,000
1 country
19
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jun 2018
Longer than P75 for all trials
19 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
June 20, 2018
CompletedFirst Submitted
Initial submission to the registry
October 20, 2021
CompletedFirst Posted
Study publicly available on registry
November 2, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2071
ExpectedStudy Completion
Last participant's last visit for all outcomes
January 1, 2071
January 15, 2026
January 1, 2026
52.6 years
October 20, 2021
January 13, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (29)
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
Study Arms (1)
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.
Eligibility Criteria
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.
You may qualify if:
- Children, adolescents and adults diagnosed with a NMD
- Who are living or treated for a NMD in Switzerland, and
- Who gave informed consent
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- University of Lausanne Hospitalscollaborator
- Ente Ospedaliero Cantonale, Bellinzonacollaborator
- University Children's Hospital, Zurichcollaborator
- University Hospital, Zürichcollaborator
- SwissPedNet - Swiss Research Network of Clinical Pediatric Hubscollaborator
- University of Bernlead
- University Children's Hospital Baselcollaborator
- Insel Gruppe AG, University Hospital Berncollaborator
Study Sites (19)
Cantonal Hospital Aarau
Aarau, Canton of Aargau, Switzerland
Pediatric Institute of Southern Switzerland, Ospedale San Giovanni
Bellinzona, Canton Ticino, Switzerland
Neuro Centre of Italian Switzerland, Ospedale Regionale di Lugano
Lugano, Canton Ticino, Switzerland
University Hospital Lausanne CHUV, Children's Hospital
Lausanne, Vaude, Switzerland
University Hospital Lausanne CHUV
Lausanne, Vaude, Switzerland
University Children's Hospital Basel
Basel, Switzerland
University Hospital Basel
Basel, Switzerland
Inselspital Bern, Children's Hospital
Bern, Switzerland
Inselspital Bern
Bern, Switzerland
Institute of Social and Preventive Medicine (ISPM), University of Bern
Bern, Switzerland
University Hospitals of Geneva, Children's Hospital
Geneva, Switzerland
University Hospitals of Geneva
Geneva, Switzerland
Cantonal Hospital of Lucerne LUKS
Lucerne, Switzerland
Cantonal Hospital of Lucerne, LUKS
Lucerne, Switzerland
Private Practice Alpenquai
Lucerne, Switzerland
Cantonal Hospital of Eastern Switzerland
Sankt Gallen, Switzerland
Children's Hospital of Eastern Switzerland
Sankt Gallen, Switzerland
University Hospital Zuerich, Children's Hospital
Zurich, Switzerland
University Hospital Zuerich
Zurich, Switzerland
Related Links
Study Officials
- PRINCIPAL INVESTIGATOR
Claudia E Kuehni, Prof. MD
Institute of Social and Preventive Medicine (ISPM), University of Bern
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Target Duration
- 80 Years
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 20, 2021
First Posted
November 2, 2021
Study Start
June 20, 2018
Primary Completion (Estimated)
January 1, 2071
Study Completion (Estimated)
January 1, 2071
Last Updated
January 15, 2026
Record last verified: 2026-01
Data Sharing
- IPD Sharing
- Will share
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.