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) and merosin-deficient muscular dystrophy also called LAMA2-related
muscular dystrophy (MDC1A respectively LAMA2).
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:
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; Avexis; Biogen; Novartis; Pfizer, PTC Therapeutics; Roche;
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.