Targeting genetic mutations in rare neurodegenerative diseases.
Somatic Repeat Expansions as a Therapeutic Target for Trinucleotide Repeat Disorders
['FUNDING_R01'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11064888
This study is looking at how certain genetic changes in Huntington's disease and Friedreich ataxia can grow over time and make symptoms worse, with the goal of finding new ways to help treat these conditions.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11064888 on ClinicalTrials.gov |
What this research studies
This research focuses on Huntington's disease and Friedreich ataxia, which are caused by specific genetic mutations that lead to neurodegeneration. The study aims to explore how these genetic mutations can expand over time in affected tissues, potentially worsening the disease. By understanding the mechanisms behind these repeat expansions, researchers hope to identify new therapeutic targets that could lead to effective treatments. The approach involves analyzing genetic and biological markers to develop strategies that may modify the disease's progression.
Who could benefit from this research
Good fit: Ideal candidates for this research are children and young adults diagnosed with Huntington's disease or Friedreich ataxia.
Not a fit: Patients with other neurodegenerative diseases not related to trinucleotide repeat expansions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that slow down or even halt the progression of Huntington's disease and Friedreich ataxia.
How similar studies have performed: Previous research has shown promise in targeting genetic mutations in similar disorders, indicating potential for success in this approach.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MOURO PINTO, RICARDO — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: MOURO PINTO, RICARDO
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.