Fixing cholesterol transport to restore nerve insulation in inherited peripheral neuropathies
Targeting the ABCA1 cholesterol transporter to correct pathophysiological myelin formation in hereditary neuropathies
This project aims to boost the ABCA1 cholesterol transporter to help restore myelin (the insulating layer around nerves) in people with inherited peripheral demyelinating neuropathies.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Nevada Reno NIH-funded |
| Lab location | 1 site (Reno, United States) |
| Project ID | NIH-11416169 on NIH RePORTER |
What this research studies
From my point of view as a patient, the team is working on a way to correct how Schwann cells handle cholesterol so they can rebuild proper myelin around peripheral nerves. They found that problems with the PMP22 gene cause cholesterol to be in the wrong place inside Schwann cells, and they will use ABCA1-targeting compounds developed with a company partner to fix that. The work now is lab-based and uses cellular and animal models that mimic the inherited neuropathies to see if ABCA1 activation restores normal myelin. If this approach looks promising in the lab, the team plans to move toward developing a treatment that could be tested in people.
Who could benefit from this research
Good fit: Ideal candidates would be people with hereditary peripheral demyelinating neuropathies linked to PMP22 abnormalities (for example gene duplication, deletion, or certain point mutations).
Not a fit: People with non-hereditary nerve damage or primarily central nervous system demyelination (such as typical multiple sclerosis) are unlikely to benefit from this peripheral, PMP22-focused approach.
Why it matters
Potential benefit: If successful, this approach could lead to a disease-modifying therapy that improves myelin health and reduces pain and disability in people with inherited peripheral demyelinating neuropathies.
How similar studies have performed: Preclinical research has shown cholesterol mislocalization in PMP22-related neuropathies and the ABCA1 pathway is a biologically plausible target, but ABCA1 agonists for this purpose are a novel, early-stage strategy with limited prior clinical testing.
Where this research is happening
Reno, United States
- University of Nevada Reno — Reno, United States (Active)
Researchers
- Principal investigator: Notterpek, Lucia — University of Nevada Reno
- Study coordinator: Notterpek, Lucia
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.