Advancing Ex Vivo Gene Therapy for ASAH1-Related SMA-PME
Official title: Advancing Ex Vivo Gene Therapy: IND-Enabling Studies for ASAH1-related SMA-PME
Funded at Cedars-Sinai Medical Center · NIH-11436160 · Data updated 2026-11-12
A one-time patient-friendly gene therapy approach uses a patient's own stem cells engineered to produce more acid ceramidase to help a rare neurodegenerative condition in affected adolescents.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cedars-Sinai Medical Center NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project start | September 18, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $825,159 |
| NIH project number | 1U01NS151207-01 |
| Project ID | NIH-11436160 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adolescents and young adults with ASAH1-related SMA-PME or related acid ceramidase deficiency conditions who are eligible for autologous stem cell therapies may be considered for future trials.
✕Less likely to help
Individuals without ASAH1-related SMA-PME or those unable to undergo autologous stem cell procedures may not benefit.
What this research studies
This project focuses on a painful, ultra-rare condition called SMA-PME caused by insufficient acid ceramidase. Researchers will take a patient’s own blood-forming stem cells, modify them in the lab to overproduce acid ceramidase, and reintroduce them to the patient as a potential one-dose treatment. The goal is to provide a lasting enzyme supply to prevent seizures and muscle weakness, aiming to extend and improve life. The work builds on prior safety data and includes IND-enabling studies to move toward a clinical trial. No additional animal-model studies are expected beyond what has already been reviewed with regulators.
Why it matters
Potential benefit: If successful, patients could receive a single-dose treatment that provides lifelong support to the enzyme system and potentially reduce or prevent severe symptoms.
How similar studies have gone: Previous ex vivo gene therapy approaches using lentiviral vectors have shown safety and efficacy in other diseases, supporting potential applicability to SMA-PME.
Where this research is happening
-
Cedars-Sinai Medical Center
Los Angeles, United States Active
Researchers
- Principal investigator: Allen-Sharpley, Michelle — Cedars-Sinai Medical Center
- Study coordinator: Allen-Sharpley, Michelle
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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.