swiss registry for neuromuscular disorders

Conditions: SMA; DMD; BMD; IMD; Congenital Muscular Dystrophy

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.

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: 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; 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.

Eligibility criteria:
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.

Keywords: dmd bmd imd sma lama2 col-6 cmd nmd