The future prospects of cell
and gene therapy

Metabolic Disorder
Role of Cell and Gene Therapy in Metabolic Disorder
- Phenylketonuria (PKU)
- Gene Therapy:
- Gene Addition: PKU is caused by mutations in the PAH gene, leading to a deficiency of the enzyme phenylalanine hydroxylase. Gene therapy aims to deliver a functional PAH gene to the liver cells using viral vectors, thereby restoring enzyme activity and normalizing phenylalanine levels in the blood.
- mRNA Therapy: Another approach involves delivering mRNA encoding for phenylalanine hydroxylase to liver cells, providing a transient but potentially effective treatment for PKU by enabling the temporary production of the missing enzyme.
- Gene Therapy:
- Cell Therapy: Transplanting healthy hepatocytes that express functional phenylalanine hydroxylase can help restore normal metabolic function in PKU patients. This approach can potentially reduce phenylalanine levels and alleviate symptoms associated with PKU.
- Glycogen Storage Diseases (GSD)
- Gene Therapy: Gene therapy using adeno-associated virus (AAV) vectors to deliver genes encoding for enzymes deficient in GSD, such as GAA (glucosidase alpha acid) in Pompe disease, can restore enzyme activity and improve glycogen metabolism in affected tissues.
- Cell Therapy: Hematopoietic stem cell transplantation (HSCT) can be used to treat certain types of GSD by providing a source of healthy cells that can produce the missing enzyme. This approach has shown promise in improving metabolic control and reducing disease symptoms.
- Fabry Disease
- Gene Therapy:
- Lentiviral Vectors: Lentiviral vector-mediated gene therapy can deliver a functional copy of the GLA gene, which encodes the enzyme alpha-galactosidase A, to patients with Fabry disease. This approach aims to restore enzyme activity and reduce the accumulation of glycosphingolipids in tissues.
- Enzyme Replacement Therapy (ERT): While not a form of gene therapy, ERT involves regular infusions of recombinant alpha-galactosidase A to replace the missing enzyme. Research is ongoing to improve the efficacy and reduce the immunogenicity of ERT.
- Gene Therapy:
- Hemophilia
- Gene Therapy:
- AAV-Mediated Delivery: Gene therapy for hemophilia involves using AAV vectors to deliver genes encoding clotting factors VIII or IX to liver cells, enabling continuous production of these factors and reducing the need for regular infusions. Clinical trials have shown promising results, with sustained expression of clotting factors and improved bleeding control.
- Gene Editing: CRISPR-Cas9 and other gene-editing technologies are being explored to correct mutations in the F8 and F9 genes that cause hemophilia A and B, respectively. This approach aims to provide a permanent cure by repairing the defective genes.
- Gene Therapy:
- Wilson’s Disease
- Gene Therapy: Wilson’s disease is caused by mutations in the ATP7B gene, leading to copper accumulation in the liver and other organs. Gene therapy using AAV vectors to deliver a functional ATP7B gene to liver cells can restore normal copper metabolism and prevent organ damage.
- Cell Therapy: Transplanting healthy liver cells that express functional ATP7B can help restore copper homeostasis in Wilson’s disease patients. This approach has the potential to improve liver function and reduce copper levels in the body.