Understanding the causes of SPG4 Hereditary Spastic Paraplegia
Official title: Mechanisms of SPG4 Hereditary Spastic Paraplegia
Funded at Drexel University · NIH-10892167 · Data updated 2026-11-12
This study is looking into how changes in the SPAST gene cause problems in the nerves for people with SPG4 Hereditary Spastic Paraplegia, with the hope of finding new ways to help those affected by 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 | September 30, 2020 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $621,750 |
| NIH project number | 5R01NS118177-05 |
| Project ID | NIH-10892167 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with SPG4 Hereditary Spastic Paraplegia, particularly those with known mutations in the SPAST gene.
✕Less likely to help
Patients with other forms of hereditary spastic paraplegia or unrelated neurological disorders may not benefit from this research.
What this research studies
This research investigates the mechanisms behind SPG4 Hereditary Spastic Paraplegia, a genetic condition that leads to progressive weakness and stiffness in the limbs due to degeneration of specific nerve pathways. The study focuses on the role of the SPAST gene and its protein, spastin, in the disease process. Researchers aim to uncover how mutations in this gene contribute to nerve damage and explore potential toxic effects of mutant proteins. By examining these mechanisms, the research seeks to provide insights that could lead to new treatment strategies for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential therapies for patients suffering from SPG4 Hereditary Spastic Paraplegia.
How similar studies have gone: Previous research has shown promise in understanding similar neurodegenerative conditions, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Drexel University
Philadelphia, United States Active
Researchers
- Principal investigator: Baas, Peter W. — Drexel University
- Study coordinator: Baas, Peter W.
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.