CD38 and muscle energy in spinal and bulbar muscular atrophy
Official title: Defining the role of CD38 and its potential as a therapeutic target in SBMA
Funded at Philadelphia College of Osteopathic Med · NIH-11251998 · Data updated 2026-11-12
The team is trying to lower CD38 to boost muscle energy and help men with spinal and bulbar muscular atrophy (SBMA).
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Philadelphia College of Osteopathic Med NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | January 1, 2025 |
| Project end | December 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $555,457 |
| NIH project number | 5R01NS140084-02 |
| Project ID | NIH-11251998 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are adult men diagnosed with SBMA (androgen receptor polyglutamine expansion), especially those willing to donate blood or skin samples for lab studies.
✕Less likely to help
People without SBMA, including most women without symptoms or people with other neuromuscular disorders, are unlikely to receive direct benefit from this project.
What this research studies
As someone living with SBMA, this project uses your cells to make muscle cells in the lab so researchers can see how energy is lost in SBMA. Scientists will turn patient blood or skin cells into stem cells, correct the AR mutation in some cells with CRISPR to create matched controls, and grow them into skeletal muscle tissue. They will measure metabolism and NAD+ levels, study the role of the enzyme CD38 in breaking down NAD+, and test whether lowering CD38 restores muscle energy. The work combines patient-derived cells, metabolomics, and prior mouse data to point toward treatments that could move into human testing.
Why it matters
Potential benefit: If successful, this could point to new treatments that restore muscle energy and reduce fatigue in men with SBMA.
How similar studies have gone: Preclinical work in mice and other disorders shows that restoring NAD+ can improve muscle and nerve function, but targeting CD38 in SBMA is a newer approach with mostly laboratory-stage evidence.
Where this research is happening
-
Philadelphia College of Osteopathic Med
Philadelphia, United States Active
Researchers
- Principal investigator: Montie, Heather L — Philadelphia College of Osteopathic Med
- Study coordinator: Montie, Heather L
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.