Clinical Stage Therapeutic Area
Adult Phenylketonuria (PKU)
Metachromatic Leukodystrophy (MLD)
Adult Phenylketonuria (PKU)
Phenylketonuria is a disorder of phenylalanine metabolism. In the patients with uncontrolled PKU, the blood Phenylalanine (Phe) level may rise above 1200 µM concentration. The clinical manifestations include growth failure, microcephaly, seizures, and intellectual impairment caused by the accumulation of toxic by-products of Phe.Gene Defect: Mutation in the PAH gene that encodes for enzyme phenylalanine hydroxylase that converts phenylalanine to tyrosine. PKU is inherited in an autosomal recessive manner
Treatment Approach: HMI-102 is an investigational gene therapy designed to deliver the functional copy of the PAH gene to the adult patients using the AAVHSC vector. Specifically, administration of the AAVHSC-based gene editing constructs may result in the integration of the human PAH gene in human hepatocytes
Clinical Stage: Phase 1/2
Metachromatic Leukodystrophy (MLD)
In MLD, defective lysosomal degradative enzyme results in the cellular components accumulate and destroy myelin-producing cells in the peripheral and central nervous system leading to progressive and serious neurological deterioration.
Gene Defect: MLD is a rare lysosomal storage disorder caused by a mutation in the ARSA gene. ARSA is responsible for the synthesis of the arylsulfatase A (ARSA) protein, which is required for the breakdown of cellular components. Treatment Approach: HMI-202 is AAVHC mediated gene delivery and integration of the correct ARSA gene into the genome
Clinical Stage: IND Enabling Study
Therapeutic Platform: AAVHSC-mediated gene transfer and homology-directed precise integration of the transgene into the genome
Overview of Pipeline
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