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Biomarker development for C9orf72 repeat expansion in ALS
Emily F Mendez1, Rita Sattler1
1Brain Science Institute and Department of Neurology, Johns Hopkins University School of Medicine, 855N Wolfe Street, Rangos 2-223, Baltimore, MD 21205, USA.
Brain Research
|September 28, 2014
Summary
The C9orf72 gene mutation is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Developing biomarkers is crucial for testing new ALS and FTD therapies targeting this genetic mutation.
Area of Science:
- Genetics
- Neuroscience
- Biomarker Discovery
Background:
- The C9orf72 gene mutation, specifically the GGGGCC hexanucleotide repeat expansion, is the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
- This mutation accounts for a significant percentage of both familial and sporadic ALS cases, and a substantial proportion of FTD cases.
- The high prevalence underscores the urgent need for effective disease-modifying treatments.
Purpose of the Study:
- To review and summarize opportunities for developing biomarkers specifically for the C9orf72 repeat expansion.
- To highlight the importance of reliable biomarkers for assessing therapeutic efficacy in clinical trials for ALS and FTD.
Main Methods:
- Literature review focusing on biomarker development strategies for the C9orf72 mutation.
- Analysis of current challenges in ALS and FTD clinical trials, particularly the lack of efficacy biomarkers.
Main Results:
- The review identifies potential avenues for biomarker development tailored to the C9orf72 repeat expansion.
- It emphasizes that effective biomarkers are essential for the successful clinical development of novel therapeutics targeting this mutation.
Conclusions:
- Biomarker development is critical to accelerate the clinical translation of promising therapies for C9orf72-associated ALS and FTD.
- Reliable biomarkers will improve the efficiency and success rate of clinical trials, ultimately benefiting patients.
