Progranulin's role in Gaucher disease
Progranulin: A Novel Gene in Gaucher Diseases
['FUNDING_R01'] · YALE UNIVERSITY · NIH-11308635
Researchers are testing whether the protein progranulin and a brain‑penetrant fragment called ND7 can boost the missing enzyme activity to help people with neuronopathic Gaucher disease.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | YALE UNIVERSITY (nih funded) |
| Locations | 1 site (NEW HAVEN, UNITED STATES) |
| Trial ID | NIH-11308635 on ClinicalTrials.gov |
What this research studies
The team uses genetically engineered mouse models that combine progranulin loss with Gaucher disease mutations to mimic the neuronopathic form of the disease and study how progranulin affects the faulty enzyme GCase. They have identified a C‑terminal fragment, ND7, that can cross the blood–brain barrier and raise GCase activity in the brain, and they are testing whether ND7 reduces neurological damage and disease signs in treated animals. The researchers also study how progranulin binds the immune peptide C5a and how blocking C5a/C5aR1 signaling may lower harmful lipid buildup. Successful results in animals would support safety testing and potential early human trials in the future.
Who could benefit from this research
Good fit: People with neuronopathic Gaucher disease (those with central nervous system involvement) or with relevant GBA1 mutations would be the most likely candidates for future trials based on this research.
Not a fit: Patients with only non‑neurological (type 1) Gaucher disease or people without GBA1‑related disease are unlikely to benefit from a brain‑targeted progranulin therapy.
Why it matters
Potential benefit: If successful, this work could lead to a brain‑penetrant therapy that improves enzyme function and reduces neurological damage in neuronopathic Gaucher disease.
How similar studies have performed: Existing enzyme replacement and substrate reduction therapies do not reach the brain, and preclinical mouse data show progranulin/ND7 can increase brain GCase activity, but human testing of this approach is novel.
Where this research is happening
NEW HAVEN, UNITED STATES
- YALE UNIVERSITY — NEW HAVEN, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LIU, CHUANJU — YALE UNIVERSITY
- Study coordinator: LIU, CHUANJU
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.
Conditions: Animal Disease Models