Impact of ABCD1 Deficiency on Blood Vessel Function in a Neurological Disorder
Effects of ABCD1 Deficiency on Endothelial Function and Permeability to Leukocytes in Cerebral X-linked Adrenoleukodystrophy
This study is looking at how a genetic issue affects blood vessels in people with X-linked adrenoleukodystrophy (ALD), a serious brain condition, and it hopes to find new ways to help improve treatment for patients like you by using advanced techniques and brain cell models.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10909891 on NIH RePORTER |
What this research studies
This research investigates how a genetic deficiency affects the function of blood vessels in patients with X-linked adrenoleukodystrophy (ALD), a severe neurological condition. The study utilizes advanced gene-editing techniques and human brain cell models to explore the mechanisms behind blood-brain barrier disruption and its role in disease progression. By understanding these processes, the research aims to identify potential therapeutic targets that could improve patient outcomes. Patients with ALD may be able to contribute to this research by providing biological samples or participating in related studies.
Who could benefit from this research
Good fit: Ideal candidates for participation are individuals diagnosed with X-linked adrenoleukodystrophy, particularly those experiencing neurological symptoms.
Not a fit: Patients with other neurological disorders unrelated to X-linked adrenoleukodystrophy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that protect brain function and improve the quality of life for patients with X-linked adrenoleukodystrophy.
How similar studies have performed: Previous research has shown promising results in understanding blood-brain barrier dysfunction in other neurological conditions, suggesting that this approach may yield valuable insights for ALD.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Musolino, Patricia L — Massachusetts General Hospital
- Study coordinator: Musolino, Patricia 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 below.