NCT05852405Completed
Clinical Characteristics, Natural History, Health Care Measures, and Genetic Screening in Patients With ALS
Clinical Characteristics, Natural History, Health Care Measures, and the Frequency of Genetic Variants in the Genes of SOD1, C9orf72, FUS and TARDBP in Patients With Sporadic and Familial Amyotrophic Lateral Sclerosis (ALS)
Source: ClinicalTrials.gov · Last updated 29 Jan 2025 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
Patients with sporadic ALS (sALS), which refers to those without a family history of ALS, are typically not subjected to genetic investigations as part of their standard care. Therefore, their mutation status is often unknown. Even patients with familial ALS (fALS), who have a known family history of ALS, are not regularly screened for genetic mutations. This project aims to study a large group of ALS patients, examining their family history, clinical characteristics, healthcare measures, and genetic variants in ALS's most commonly mutated genes: SOD1, C9orf72, FUS, and TARDBP. Examining genetically distinct ALS cohorts is significant, as understanding the relationship between genotype and disease progression is essential in determining the therapeutic potential of future genetic therapies.
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 2000 (actual)
- First submitted
- 28 Apr 2023
- Start date
- 1 Aug 2021
- Primary completion date
- 31 Dec 2024
- Lead sponsor
- Ambulanzpartner Soziotechnologie APST GmbH
- Diseases
- ALS (motor neurone disease)
- NCT number
- NCT05852405
What you commit to
- Study type: Observational
- Participants enrolled: 2000
- From 1 Aug 2021 to the primary completion date, 31 Dec 2024
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Inability to provide patient directives about the notification of individual study results on genetic variants of SOD1, C9orf72, FUS and TARDBP
- Inability to comply with study requirements
- Unspecified reasons that, in the opinion of the site investigator, perceive the subject as unsuitable for enrollment
Who the study is looking for
- ALS, including classical ALS, Progressive Muscle atrophy (PMA) or Primary Lateral Sclerosis (PLS)
- Ability to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use protected health information (PHI) under national and local subject privacy regulations
- Age of 18 years old at the time of informed consent
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Center for ALS and other motor neuron disorders, Charité - Universitätsmedizin Berlin Coordinator of this site? Confirm its status | Berlin | Germany | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.