Clinical Characteristics, Natural History, Health Care Measures, and Genetic Screening in Patients With ALS
NCT05852405 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 2000
Last updated 2025-01-29
Summary
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.
Conditions
- Motor Neuron Disease, Amyotrophic Lateral Sclerosis
Sponsors & Collaborators
-
Charite University, Berlin, Germany
collaborator OTHER -
Ambulanzpartner Soziotechnologie APST GmbH
lead INDUSTRY
Principal Investigators
-
Thomas Meyer, Prof. Dr. · Center for ALS and other motor neuron disorders, Charité - Universitätsmedizin Berlin
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2021-08-01
- Primary Completion
- 2024-12-31
- Completion
- 2024-12-31
Countries
- Germany
Study Locations
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