Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT05852405 |
| Other study ID # |
400634 |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
August 1, 2021 |
| Est. completion date |
June 2025 |
Study information
| Verified date |
May 2023 |
| Source |
Ambulanzpartner Soziotechnologie APST GmbH |
| Contact |
Thomas Meyer, Prof. Dr. |
| Phone |
030450560028 |
| Email |
thomas.meyer[@]charite.de |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational [Patient Registry]
|
Clinical Trial 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.
Description:
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.
