SMASwiss-Reg-NMDNCT05102916
Swiss Registry for Neuromuscular Disorders
An observational study of SMA and DMD, run by University of Bern at 19 sites in Switzerland.
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. Read more about this study
- Who is it for?
- Ages 0 years and older
- How many people
- 2,000 participants
- Where
- 19 sitesSwitzerland
- Study dates
- 20 Jun 2018to 1 Jan 2071
- How long will I take part?
- 80 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Children, adolescents and adults diagnosed with a NMD
- Who are living or treated for a NMD in Switzerland, and
- Who gave informed consent
Who cannot join
- 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.
Trial locations and contacts
19 sites in 1 country. Contact the study team or a site near you to ask about taking part.
19 sites in 1 country
Switzerland19 sites, 19 recruiting
- Recruiting
Cantonal Hospital Aarau
Aarau, Canton of Aargau
Christina Rüsch, Dr. med.
- Recruiting
University Children's Hospital Basel
Basel
Andrea Klein, Prof. MD
- Recruiting
University Hospital Basel
Basel
Janina Wendebourg, Dr. med.
- Recruiting
Pediatric Institute of Southern Switzerland, Ospedale San Giovanni
Bellinzona, Canton Ticino
Barbara Goeggel Simonetti, PD Dr. med.
- Recruiting
Inselspital Bern, Children's Hospital
Bern
Andrea Klein, Prof. MD
- Recruiting
Inselspital Bern
Bern
Olivier Scheidegger, Prof. MD
- Recruiting
Institute of Social and Preventive Medicine (ISPM), University of Bern
Bern
Claudia E Kuehni, Prof. MD, +41 31 684 35 07, swiss-reg-nmd.ispm@unibe.ch
- Recruiting
University Hospitals of Geneva, Children's Hospital
Geneva
Joel Fluss, PD Dr. med.
- Recruiting
University Hospitals of Geneva
Geneva
Agustina Lascano, PD Dr. med.
- Recruiting
University Hospital Lausanne CHUV, Children's Hospital
Lausanne, Vaude
David Jacquier, Dr. med.
- Recruiting
University Hospital Lausanne CHUV
Lausanne, Vaude
Stefano Carda, Dr. med.
- Recruiting
Cantonal Hospital of Lucerne LUKS
Lucerne
Mareike Schimmel, Dr. med.
- Recruiting
Cantonal Hospital of Lucerne, LUKS
Lucerne
Violeta Mihaylova, PD Dr. med.
- Recruiting
Private Practice Alpenquai
Lucerne
Petra Kolditz, Dr.med.
- Recruiting
Neuro Centre of Italian Switzerland, Ospedale Regionale di Lugano
Lugano, Canton Ticino
Paolo Ripellino, Dr. med.
- Recruiting
Cantonal Hospital of Eastern Switzerland
Sankt Gallen
Christoph Neuwirth, PD Dr. med.
- Recruiting
Children's Hospital of Eastern Switzerland
Sankt Gallen
Philip Broser, PD Dr. med.
- Recruiting
University Hospital Zuerich, Children's Hospital
Zurich
Georg Stettner, PD Dr. med.
- Recruiting
University Hospital Zuerich
Zurich
Hans Jung, Prof. MD
About this study
Official title: Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD)
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.
Read the 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), merosin-deficient muscular dystrophy also called LAMA2-related muscular dystrophy (MDC1A respectively LAMA2) ) and Collagen 6 related muscular dystrophy.
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:
- 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; Amicus Therapeutics; Avexis; Biogen; ITF Pharma; Novartis; Pfizer, PTC Therapeutics; Roche; Sanofi; 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.
- Conditions
- SMA, DMD, BMD, IMD, Congenital Muscular Dystrophy
- Keywords
- DMD, BMD, IMD, SMA, LAMA2, COL-6, CMD, NMD
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Personal data
Registering and updating patients personal data
Measured: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Initial symptoms
Initial symptoms
Measured: At diagnosis
Age at initial symptoms and diagnosis
Age at initial symptoms and diagnosis
Measured: At diagnosis
Family history
Other affected family members
Measured: At diagnosis
Investigations
Type of investigations for diagnosis
Measured: At diagnosis
Diagnosis
Mutation
Measured: At diagnosis
Change of living status
Date of death
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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)
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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)
Measured: 0-80 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Nov 2021
- Study start20 Jun 2018
- Primary completion1 Jan 2071 (estimated)
- Study completion1 Jan 2071 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SMAStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 2,000 participants (estimated)
- Target duration
- 80 Years
Sponsor and investigators
- Lead sponsor
- University of Bern
- Sponsor type
- University, hospital or other
- Collaborators
- University Children's Hospital Basel, Insel Gruppe AG, University Hospital Bern, University of Lausanne Hospitals, Ente Ospedaliero Cantonale, Bellinzona, University Children's Hospital, Zurich, University Hospital, Zürich, SwissPedNet
- Responsible party
- Sponsor
- Investigators
- Claudia E Kuehni, Prof. MD, Principal investigator, Institute of Social and Preventive Medicine (ISPM), University of Bern
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05102916
- Sponsor's protocol ID
- 2018-00289
- Other IDs
- 2018
- Acronym
- Swiss-Reg-NMD
- Status last verified
- Jan 2026
- First submitted
- 20 Oct 2021
- Last updated
- 15 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Study at a glance
From the registry record, last updated by the sponsor on 15 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD)
- ClinicalTrials.gov ID
- NCT05102916
- Acronym / sponsor ID
- Swiss-Reg-NMD / 2018-00289
- Conditions
- SMA, DMD, BMD, IMD, Congenital Muscular Dystrophy
- Keywords
- DMD, BMD, IMD, SMA, LAMA2, COL-6, CMD, NMD
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- University of BernUniversity, hospital or other
- Collaborators
- University Children's Hospital Basel, Insel Gruppe AG, University Hospital Bern, University of Lausanne Hospitals, Ente Ospedaliero Cantonale, Bellinzona, University Children's Hospital, Zurich, University Hospital, Zürich, SwissPedNet
- Study start
- 20 Jun 2018 (actual)
- Primary completion
- 1 Jan 2071 (estimated)
- Study completion
- 1 Jan 2071 (estimated)
- First posted
- 2 Nov 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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), merosin-deficient muscular dystrophy also called LAMA2-related muscular dystrophy (MDC1A respectively LAMA2) ) and Collagen 6 related muscular dystrophy.
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:
- 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; Amicus Therapeutics; Avexis; Biogen; ITF Pharma; Novartis; Pfizer, PTC Therapeutics; Roche; Sanofi; 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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 80 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- Children, adolescents and adults diagnosed with a NMD
- Who are living or treated for a NMD in Switzerland, and
- Who gave informed consent
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Personal data
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering and updating patients personal data
Initial symptoms
Time frame: At diagnosis
Initial symptoms
Age at initial symptoms and diagnosis
Time frame: At diagnosis
Age at initial symptoms and diagnosis
Family history
Time frame: At diagnosis
Other affected family members
Investigations
Time frame: At diagnosis
Type of investigations for diagnosis
Diagnosis
Time frame: At diagnosis
Mutation
Change of living status
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Date of death
Change of living status II
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Cause of death
Change in height
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering height
Change in weight
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering weight
Change in head circumference
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering head circumference
Change in motor development and motor functions
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering motor development and function (motor function scales)
Change in musculoskeletal system
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Assessing change in musculoskeletal system over time
History of surgeries
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering surgeries
Change in cardiac function
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering cardiac function
Change in pulmonary function
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering pulmonary function
Change in nutritional habits
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering feeding habits
Change in cognition
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Assessing mental ability using tests, including language
Change in education
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering type of education
Change in therapies
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering therapies
Change in orthopaedic situation
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Assessing use of orthopaedic resources
Change in treatments
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering treatments
Change in side effects
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering side effects of treatments
Change in comorbidities
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering comorbidities
History of hospitalizations
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering hospitalizations
Change in disease specific markers
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering change in disease specific markers
Change in epilepsy
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering epilepsy
History of participation in clinical trials and research studies
Time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering participation in current/past clinical trials and research studies
Questionnaire data
Time frame: 0-80 years
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)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jan 2026.
- Website of the registryLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Claudia E Kuehni, Prof. MD principal investigator
Institute of Social and Preventive Medicine (ISPM), University of Bern
19 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of SMA and DMD, run by University of Bern at 19 sites in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 19 sites in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Claudia E Kuehni, Prof. MD (+41 (0)31 684 35 07, swiss-reg-nmd.ispm@unibe.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Personal data (time frame: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)). The study lists 29 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Jan 2026.