Clinical trial NCT05102916: Swiss Registry for Neuromuscular Disorders
Official title: Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: SMA
DMD
BMD
IMD
Congenital Muscular Dystrophy
Keywords: DMD
BMD
IMD
SMA
LAMA2
COL-6
CMD
NMD
Lead sponsor: University of Bern
Sponsor class: OTHER
Collaborators: name: University Children's Hospital Basel
name: Insel Gruppe AG, University Hospital Bern
name: University of Lausanne Hospitals
name: Ente Ospedaliero Cantonale, Bellinzona
name: University Children's Hospital, Zurich
First posted: 2021-11-02
Enrollment: 2000
Sex: ALL
Minimum age (years): 0
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
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.

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.

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) 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.

Primary outcomes:
measure: Personal data
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Initial symptoms
timeFrame: At diagnosis
measure: Age at initial symptoms and diagnosis
timeFrame: At diagnosis
measure: Family history
timeFrame: At diagnosis
measure: Investigations
timeFrame: At diagnosis
measure: Diagnosis
timeFrame: At diagnosis
measure: Change of living status
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change of living status II
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in height
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in weight
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in head circumference
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in motor development and motor functions
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in musculoskeletal system
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: History of surgeries
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in cardiac function
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in pulmonary function
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in nutritional habits
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in cognition
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in education
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in therapies
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in orthopaedic situation
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in treatments
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in side effects
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in comorbidities
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: History of hospitalizations
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in disease specific markers
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Change in epilepsy
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: History of participation in clinical trials and research studies
timeFrame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
measure: Questionnaire data
timeFrame: 0-80 years
Secondary outcomes:
Other outcomes:
Locations:
city: Bellinzona
country: Switzerland
facility: Pediatric Institute of Southern Switzerland, Ospedale San Giovanni
state: Ticino
city: Lugano
country: Switzerland
facility: Neuro Centre of Italian Switzerland, Ospedale Regionale di Lugano
state: Ticino
city: Lausanne
country: Switzerland
facility: University Hospital Lausanne CHUV, Children's Hospital
state: Vaude
city: Lausanne
country: Switzerland
facility: University Hospital Lausanne CHUV
state: Vaude
city: Basel
country: Switzerland
facility: University Children's Hospital Basel
city: Basel
country: Switzerland
facility: University Hospital Basel
city: Bern
country: Switzerland
facility: Inselspital Bern, Children's Hospital
city: Bern
country: Switzerland
facility: Inselspital Bern
city: Bern
country: Switzerland
facility: Institute of Social and Preventive Medicine (ISPM), University of Bern
city: Geneva
country: Switzerland
facility: University Hospitals of Geneva, Children's Hospital
city: Geneva
country: Switzerland
facility: University Hospitals of Geneva
city: Lucerne
country: Switzerland
facility: Cantonal Hospital of Lucerne LUKS
city: Lucerne
country: Switzerland
facility: Private Practice Alpenquai
city: Sankt Gallen
country: Switzerland
facility: Cantonal Hospital of Eastern Switzerland
city: Sankt Gallen
country: Switzerland
facility: Children's Hospital of Eastern Switzerland
city: Zuerich
country: Switzerland
facility: University Hospital Zuerich, Children's Hospital
city: Zuerich
country: Switzerland
facility: University Hospital Zuerich
Study officials:
affiliation: Institute of Social and Preventive Medicine (ISPM), University of Bern
name: Claudia E Kuehni, Prof. MD
role: PRINCIPAL_INVESTIGATOR
References: