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Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine

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Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia.

Randy J Chandler¹, Charles P Venditti¹

¹National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Journal of Inherited Metabolic Disease

|August 2, 2023

Summary

Gene therapy offers a promising new treatment for organic acidemias (OA), rare metabolic disorders. Research in mouse models suggests potential for broader application in treating these serious conditions.

Keywords:

AAV CRISPR MMA PA adeno-associated virus gene therapy genome editing homologous recombination mRNA therapy methylmalonic acidemia mouse models organic acidemia propionic acidemia

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Area of Science:

Biochemistry
Genetics
Metabolic Disorders

Background:

Organic acidemias (OA) are rare autosomal recessive metabolic disorders.
OA lead to systemic organic acid elevation, metabolic instability, and multisystemic complications.
Current therapies, including diet and cofactors, are insufficient for many patients.

Purpose of the Study:

To review gene therapy approaches for organic acidemias.
To illustrate experimental paradigms using methylmalonic acidemia (MMA) and propionic acidemia (PA) mouse models.
To explore the potential of gene therapy as a new treatment for OA.

Main Methods:

Review of gene therapy experiments in MMA and PA mouse models.
Analysis of experimental paradigms for treating OA.
Evaluation of liver transplantation as a precursor to gene therapy.

Main Results:

Gene therapy approaches have been explored in relevant animal models for OA.
MMA and PA mouse models have been used to test gene therapy strategies.
Experimental paradigms from these models may be applicable to all forms of OA.

Conclusions:

Gene therapy holds theoretical promise for treating OA.
Liver transplantation can improve metabolic stability in severe OA cases.
Further research in animal models is crucial for developing effective gene therapies for OA.