C9ORF72 natural history: understanding clinical phenotype and collecting biomarker samples in C9ORF72 ALS

Diagnosis ALS with known positive C9ORF72 ALS status
Study phase Completed
Participating centres UMC Utrecht

Understanding clinical phenotype and collecting biomarker samples in C9ORF72 ALS

This research study is being performed to better understand a specific form of ALS caused by a mutation (or abnormality) of the C9ORF72 gene. This mutation is the most common genetic cause of ALS, and is present in 40% of ALS patients with a family history of ALS and 5-10% of ALS patients without a family history of ALS.

Individuals diagnosed with ALS, who are confirmed to carry the Chromosome 9 Open Reading Frame 72 (C9ORF72) gene mutation by CLIA-certified lab results, are eligible for enrollment. Researchers want to understand the natural history of C9ORF72 related ALS in terms of measures of rate of progression as well as understanding how the size of the hexanucleotide repeat expansion influences disease parameters. The investigators hope that the intense study of patients with the C9ORF72 mutation will ultimately help us develop treatments for this common form of ALS.

Enrolment total study: 120 patients.

Centers: 7 sites in the US, 1 site in The Netherlands (UMCU)

Read more on clinicaltrials.gov