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Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Design considerations for C9orf72 disease prevention trials.

Michael Benatar1, Adam M Staffaroni2, Joanne Wuu1

  • 1Department of Neurology and the ALS Center, Miller School of Medicine, University of Miami, Miami, FL 33129, USA.

Brain : a Journal of Neurology
|August 12, 2025
PubMed
Summary

Preventing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is now feasible. A C9orf72 gene expansion affects 10% of ALS and 15% of FTD cases, offering a target for early intervention in at-risk individuals.

Keywords:
amyotrophic lateral sclerosis (ALS)biomarkerfrontotemporal dementia (FTD)phenoconversionpre-symptomaticregulatory considerations

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Area of Science:

  • Neuroscience and Genetics
  • Neurodegenerative Disease Research

Background:

  • The C9orf72 gene hexanucleotide repeat expansion is a significant genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  • This expansion accounts for approximately 10% of ALS and 10-15% of FTD cases, often presenting with overlapping or distinct clinical syndromes.
  • Clinically unaffected carriers of this expansion represent the largest identifiable population at high risk for developing ALS and/or FTD, making them a key target for preventive strategies.

Purpose of the Study:

  • To unify efforts in designing disease prevention trials for individuals at elevated genetic risk due to C9orf72 repeat expansions.
  • To establish a collaborative framework involving ALS, FTD, and C9orf72 carrier communities, regulatory bodies, and drug developers.
  • To outline recommendations for critical aspects of prevention trial design, including outcome measures, eligibility, biomarkers, and regulatory considerations.

Main Methods:

  • Convened a multi-stakeholder workshop supported by The Association for Frontotemporal Degeneration and The ALS Association in June 2024.
  • Focused on developing unified strategies for prevention trials targeting the C9orf72 repeat expansion's phenotypic spectrum.
  • Synthesized recommendations on outcome measures, eligibility criteria, biomarker utilization, digital health technologies, analytical frameworks, and regulatory pathways.

Main Results:

  • Identified shared clinical and biological markers for quantifying pre-symptomatic disease progression across the ALS/FTD spectrum.
  • Emphasized the need to move beyond siloed approaches and consider the full spectrum of C9orf72-related neurodegeneration.
  • Generated consensus on key elements required for designing effective prevention trials in at-risk C9orf72 expansion carriers.

Conclusions:

  • Prevention of C9orf72-related ALS and FTD is an achievable goal, particularly in asymptomatic carriers.
  • Collaborative, unified approaches are essential for successful prevention trial design and execution.
  • The current understanding and enthusiasm warrant immediate action to design and implement C9orf72 disease prevention trials.