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Gene Therapy & Genetic Medicine
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Neuromuscular Disease Research
Paediatric Rare Disease Research
LEAD PROGRAM — HG-001 Gene Replacement Therapy
HG-001 is HaliGene’s lead investigational gene replacement therapy designed to treat CHKB-associated congenital megaconial muscular dystrophy (MDCMC). MDCMC is a progressive neuromuscular disease caused by biallelic loss-of-function variants in the CHKB gene, which encodes choline kinase beta — an enzyme essential for phospholipid biosynthesis and mitochondrial structural integrity. HG-001 delivers a full-length, consensus CHKB gene using a recombinant AAV9 (rAAV9) vector to restore functional CHKB activity across key affected tissues, including skeletal muscle, cardiac muscle, and the central nervous system.
- Delivery of a Functional CHKB Gene
HG-001 provides cells with a functional copy of the CHKB gene, designed to compensate for pathogenic variants and re-establish normal enzyme activity. This corrects the underlying biochemical deficiency driving disease progression. - AAV9-Mediated Targeting of Affected Tissues
rAAV9 is selected for its strong natural affinity for neuromuscular and cardiac tissue. Following systemic administration, the vector distributes broadly, delivering the therapeutic gene to muscles responsible for movement, respiration, and cardiac function. - Restoration of Phospholipid Biosynthesis
By restoring CHKB enzymatic function, HG-001 aims to normalize phosphatidylcholine biosynthesis—a core requirement for healthy muscle cell membranes and mitochondrial structure—thereby reducing the formation of oversized, dysfunctional megaconial mitochondria. - Support of Muscle Stability and Systemic Function
Correcting CHKB loss may improve cellular energy handling, membrane stability, and muscle-fibre resilience, which in turn supports motor development, strength, and organ system stability. - Durable Expression and Disease Modification
AAV9 vectors are known to enable long-term gene expression. HG-001 is designed as a potential one-time treatment capable of altering the trajectory of this severe, childhood-onset disorder.
- Addresses the root cause of CHKB muscular dystrophy through gene replacement
- Targets all key affected systems — skeletal muscle, heart, and CNS
- Potential to improve motor function, muscle strength, and developmental outcomes
- Designed to reduce mitochondrial megaconial abnormalities and stabilize cellular structure
- May slow, halt, or significantly modify disease progression
- First therapeutic candidate specifically engineered for MDCMC
- Built on a scalable, platform-ready architecture, supporting future rare disease programs
Join us in advancing transformative gene therapies for ultra-rare neuromuscular diseases. Connect with our team to explore collaboration opportunities.
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