AAV gene therapy for homozygous familial hypercholesterolemia: a phase 1 trial
Authors' conclusion
These results offer initial insights into the safety and therapeutic potential of NGGT006
Study context
- Population
- Patients with homozygous familial hypercholesterolemia (HoFH)
- Participants
- 3 patients
- Outcome
- Safety and LDL-C reduction
- Follow-up
- 52 weeks
Methodological detailsopen-label, single-arm
- Open-label
- Single-arm
Main finding
As reported in the abstract
- Well tolerated; no vector-related severe adverse events
- Highest-dose patient: sustained low-density lipoprotein cholesterol (LDL-C) reduction from 11 mmol l-1 to <1.8 mmol l-1, starting 3 weeks after treatment
Further findings
Preclinical efficacy
- Lowered LDL-C in Ldlr-/- mice and hamsters; decreased aortic plaque size in Ldlr-/- mice
Safety
| Outcome | Values |
|---|---|
| Liver enzyme elevations | NGGT006 3 events |
Liver enzyme elevations
- All three patients; resolved after sirolimus and methylprednisolone
Rhesus monkeys
- Transient liver enzyme elevations, no severe adverse events
Original publication
AAV gene therapy for homozygous familial hypercholesterolemia: a phase 1 trial. Nat Med. Published 4 June 2026. doi:10.
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