Clinical Characteristics, Natural History, Health Care Measures, and Genetic Screening in Patients With ALS

Only limited data are available on the frequency of genetic variants in patients with sporadic ALS (sALS) and familial ALS (fALS). Genetic investigations do not belong to the standard of care in patients with sALS (patients without a family history of ALS). As a result, the patient's mutation status is commonly unknown. Even in patients with fALS (with a known family history of ALS), screening for genetic mutations is not performed regularly due to lacking treatment options in gene therapy. However, this paradigm is about to change as clinical trials on genetic medicines are ongoing and might result in the approval of new genetically investigated drugs. This project aims to explore a large cohort of ALS patients on family history, clinical characteristics, healthcare measures, and genetic variants in SOD1, C9orf72, FUS, and TARDBP - the most commonly mutated genes in ALS. This cohort study will allow us to determine the frequency of gene mutations in ALS patients in a real-world setting of ALS centers in Germany. Furthermore, the project shall enhance insights into potential differences between genetically defined cohorts using the course of the disease and the provision of health care measures. The investigation of genetically distinct ALS cohorts is particularly relevant, as an improved understanding of the relationship between the genotype and the journey of disease is scientifically indispensable to determine the therapeutic potential of future genetic therapies.

Inclusion criteria

• 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

Exclusion criteria

• 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