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

NCT05852405 | Completed

• 1 other identifier: 400634
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

ID-ALS; ALSFRS-R-SE; ALSFRS-R; Neurofilament light chain NfL; APST Research; ALS-App; SOD1; C9orf72; FUS; TARDBP; Biomarker

Outcome Measures

Primary Outcomes (1)

• Genetic variants in the genes of SOD1, C9orf72, FUS and TARDBP

  • To identify the frequency of genetic variants in the genes of SOD1, C9orf72, FUS and TARDBP in patients with sALS and fALS

  2 years

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The enrollment of subjects takes place in specialized ALS outpatient centers in Germany. ALS patients eligible for the investigation will be invited to participate in this cohort study. After obtaining informed consent, subjects will be enrolled in the study.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Ambulanzpartner Soziotechnologie APST GmbH: lead
• Charite University, Berlin, Germany: collaborator

Study Sites (1)

Center for ALS and other motor neuron disorders, Charité - Universitätsmedizin Berlin

Berlin, 13353, Germany

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood and serum

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Frontotemporal Dementia With Motor Neuron Disease

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Thomas Meyer, Prof. Dr.

  Center for ALS and other motor neuron disorders, Charité - Universitätsmedizin Berlin

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 6 Months
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 28, 2023
• First Posted: May 10, 2023
• Study Start: August 1, 2021
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2024
• Last Updated: January 29, 2025

Record last verified: 2025-01

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)