HexD3 enzyme treats Sandhoff disease after symptoms start
Author Information
Author(s): Lopez Manuel E., Wendt Daniel, Lawrence Roger, Gong Kerui, Ong Hoonsan, Yip Bryan, Chen Joseph, Mangini Linley, Handyside Britta, Giaramita Alexander, Lamichhane Aashish, Lo Melanie, Agrawal Vishal, Van Vleet Jeremy, Abolhesn Amanda, Felix Jessica B., Villalpando Isaac, Bhat Vikas, De Angelis Rolando, Ru Yuanbin, Khan Ayesha, Fong Sylvia, Christianson Terri, Bullens Sherry, Crawford Brett E., Bunting Stuart, Aoyagi-Scharber Mika
Primary Institution: BioMarin Pharmaceutical Inc.
Hypothesis
Can HexD3, a modified enzyme, effectively treat Sandhoff disease even after neurodegeneration has begun?
Conclusion
HexD3 can halt motor decline and improve late-stage disease severity in Sandhoff disease mice, even when treatment starts after symptoms appear.
Supporting Evidence
- HexD3 halted motor decline in Sandhoff disease mice even when treatment started late.
- HexD3 showed advantages over HexA in enzyme stability and distribution.
- Treatment with HexD3 improved lysosomal health as indicated by reduced lipid BMP levels.
Takeaway
Researchers found that a new enzyme called HexD3 can help sick mice feel better, even if they start taking it after they get sick.
Methodology
The study involved administering HexD3 via intracerebroventricular injections in a mouse model of Sandhoff disease and assessing its effects on neurodegeneration.
Potential Biases
All authors were employees of BioMarin Pharmaceutical, which funded the study, potentially introducing bias.
Limitations
The study primarily focused on a mouse model, which may not fully replicate human disease conditions.
Participant Demographics
The study used Sandhoff disease model mice, specifically B6;129S4-Hexbtm1Rlp/J.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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