Targeting specific mutations in the NEFL gene to treat Charcot-Marie-Tooth disease.
Allele-specific inactivation for dominant negative NEFL Mutations
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-10874573
This study is testing a new gene editing method to help people with Charcot-Marie-Tooth disease type 2E by specifically targeting and turning off the harmful mutations in a gene, with the hope of finding a treatment for this condition that currently has no good options.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-10874573 on ClinicalTrials.gov |
What this research studies
This research focuses on developing a precise gene editing technique to target and inactivate specific mutations in the NEFL gene that cause Charcot-Marie-Tooth disease type 2E (CMT2E). By utilizing advanced CRISPR technology, the researchers aim to selectively edit the mutant allele while preserving the healthy version of the gene. This approach could potentially provide a therapeutic option for patients suffering from this debilitating condition, which currently has no effective treatments. The study will validate this gene editing platform using CMT2E as a model, addressing the challenges of targeting dominant mutations.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Charcot-Marie-Tooth disease type 2E caused by mutations in the NEFL gene.
Not a fit: Patients with other forms of Charcot-Marie-Tooth disease not linked to NEFL mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking treatment for patients with Charcot-Marie-Tooth disease by effectively targeting and inactivating harmful gene mutations.
How similar studies have performed: While gene editing for dominant mutations is a novel approach, there have been successful applications of CRISPR technology in other genetic disorders, indicating potential for success in this area.
Where this research is happening
SAN FRANCISCO, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN FRANCISCO — SAN FRANCISCO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: JUDGE, LUKE M — UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- Study coordinator: JUDGE, LUKE M
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.