Understanding the causes of hereditary spastic paraplegia
Official title: Elucidating the etiology of SPAST-based Hereditary Spastic Paraplegia
Funded at Drexel University · NIH-10991380 · Data updated 2026-11-12
This study is looking at how changes in a specific gene related to hereditary spastic paraplegia can harm nerve cells, with the hope of finding better treatments for people living with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Drexel University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | December 15, 2020 |
| Project end | November 30, 2025 |
| Funding year | 2025 |
| Award (this year) | $340,875 |
| NIH project number | 5R01NS115977-05 |
| Project ID | NIH-10991380 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with hereditary spastic paraplegia, particularly those with mutations in the SPAST gene.
✕Less likely to help
Patients with hereditary spastic paraplegia caused by mutations in genes other than SPAST may not benefit from this research.
What this research studies
This research investigates hereditary spastic paraplegia (HSP), a neurodegenerative disorder that leads to progressive weakness and spasticity in the lower limbs. The study focuses on the SPAST gene, which is commonly mutated in HSP, and aims to explore the toxic effects of mutant spastin proteins on nerve cells. By using advanced mouse models, researchers will examine how these mutations contribute to the degeneration of specific nerve pathways, which could lead to better understanding and potential treatments for patients with this condition.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for managing or treating hereditary spastic paraplegia.
How similar studies have gone: Previous research has shown promise in understanding neurodegenerative disorders through genetic and molecular approaches, suggesting potential for success in this area.
Where this research is happening
-
Drexel University
Philadelphia, United States Active
Researchers
- Principal investigator: Qiang, Liang — Drexel University
- Study coordinator: Qiang, Liang
Related research
Other NIH-funded projects on the same topics.
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Understanding axon degeneration in hereditary spastic paraplegia and ALS using patient-derived neurons
Aimed at understanding why certain nerve fibers die in hereditary spastic paraplegia and ALS by studying neurons made from patients’ own stem cells.
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Combinatorial Therapy for SPG4 hereditary spastic paraplegia
Aims to test gene-based treatments to help people with SPG4-related hereditary spastic paraplegia manage mobility and related symptoms.
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Understanding how full-length spastin works and its role in hereditary spastic paraplegia
This grant aims to uncover how the spastin protein uses ATP to cut and regrow microtubules, shedding light on the most common inherited cause of a neurodegenerative leg-weakness disorder.
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Finding hidden genetic causes of hereditary spastic paraplegia
Using whole genome sequencing to find genetic causes for people with hereditary spastic paraplegia whose earlier genetic tests came up inconclusive.
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A new antibody-based therapy for SPG4 hereditary spastic paraplegia
A small NIH grant is funding a therapy aimed at reducing mutant M1 spastin protein to help people with SPG4-HSP, a gradual leg-weakening neurodegenerative condition.
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Understanding nerve damage in hereditary spastic paraplegia
Researchers are using genetically modified rats and patient-derived stem cells to learn how gene mutations cause nerve fiber damage in people with hereditary spastic paraplegia.
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.