Swiss Registry for Neuromuscular Disorders

SMA Clinical Trial

— Swiss-Reg-NMD  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05102916
• Other study ID #: 2018-00289
• Status: Recruiting
• Start date: June 20, 2018
• Est. completion date: January 1, 2071

Study information

• Verified date: March 2023
• Source: University of Bern
• Contact: Claudia E Kuehni, Prof. MD
• Phone: +41 (0)31 684 35 07
• Email: swiss-reg-nmd[@]ispm.unibe.ch
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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 recently also 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: January 1, 2071
• Est. primary completion date: January 1, 2071
• Accepts healthy volunteers: No
• Gender: All
• Age group: 0 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• BMD
• Congenital Muscular Dystrophy
• DMD
• Muscular Dystrophies
• Neuromuscular Diseases
• SMA

Locations

Country	Name	City	State
Switzerland	Pediatric Institute of Southern Switzerland, Ospedale San Giovanni	Bellinzona	Ticino
Switzerland	Inselspital Bern	Bern
Switzerland	Inselspital Bern, Children's Hospital	Bern
Switzerland	Institute of Social and Preventive Medicine (ISPM), University of Bern	Bern
Switzerland	University Hospitals of Geneva	Geneva
Switzerland	University Hospitals of Geneva, Children's Hospital	Geneva
Switzerland	University Hospital Lausanne CHUV	Lausanne	Vaude
Switzerland	University Hospital Lausanne CHUV, Children's Hospital	Lausanne	Vaude
Switzerland	Cantonal Hospital of Lucerne LUKS	Lucerne
Switzerland	Private Practice Alpenquai	Lucerne
Switzerland	Neuro Centre of Italian Switzerland, Ospedale Regionale di Lugano	Lugano	Ticino
Switzerland	Cantonal Hospital of Eastern Switzerland	Sankt Gallen
Switzerland	Children's Hospital of Eastern Switzerland	Sankt Gallen
Switzerland	University Hospital Zuerich	Zuerich
Switzerland	University Hospital Zuerich, Children's Hospital	Zuerich

Sponsors (6)

Lead Sponsor	Collaborator
University of Bern	Ente Ospedaliero Cantonale, Bellinzona, University Children's Hospital Basel, University Children's Hospital, Zurich, University Hospital Inselspital, Berne, University of Lausanne Hospitals

Country where clinical trial is conducted

Switzerland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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)
Primary	Initial symptoms	Initial symptoms	At diagnosis
Primary	Age at initial symptoms and diagnosis	Age at initial symptoms and diagnosis	At diagnosis
Primary	Family history	Other affected family members	At diagnosis
Primary	Investigations	Type of investigations for diagnosis	At diagnosis
Primary	Diagnosis	Mutation	At diagnosis
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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)
Primary	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

External Links

•   Website of the registry