Gene therapy for brain diseases using cerebrospinal fluid delivery

Translational studies on cerebrospinal fluid (CSF)-directed gene therapy for global neurometabolic brain disease

NIH-funded research Children's Hosp of Philadelphia · NIH-10599930

This study is exploring a new way to treat alpha-mannosidosis, a genetic brain condition, by using gene therapy delivered directly into the fluid around the brain to help fix the underlying issues and improve brain function.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionChildren's Hosp of Philadelphia NIH-funded
Lab location1 site (Philadelphia, United States)
Project IDNIH-10599930 on NIH RePORTER

What this research studies

This research investigates a novel approach to treat inherited brain diseases by delivering gene therapy directly into the cerebrospinal fluid (CSF). The focus is on a specific condition called alpha-mannosidosis, which affects brain function due to a genetic defect. By using a viral vector to introduce a normal gene into affected brain cells, the therapy aims to correct the metabolic issues throughout the brain. This method has the potential to improve treatment outcomes by ensuring widespread distribution of the therapeutic gene.

Who could benefit from this research

Good fit: Ideal candidates for this research are individuals diagnosed with alpha-mannosidosis or similar lysosomal storage disorders.

Not a fit: Patients with brain diseases not related to lysosomal storage disorders may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to more effective treatments for patients with global neurometabolic brain diseases.

How similar studies have performed: Previous research has shown promise in using gene therapy for lysosomal storage disorders, indicating potential success for this approach.

Where this research is happening

Philadelphia, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions Brain DiseasesBrain DisordersEncephalon DiseasesIntracranial CNS DisordersIntracranial Central Nervous System Disorders
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.