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Gene therapy of inherited diseases

2008; Elsevier BV; Volume: 371; Issue: 9629 Linguagem: Inglês

10.1016/s0140-6736(08)60874-0

1474-547X

Alain Fischer, Marina Cavazzana,

Animal Genetics and Reproduction

Thousands of rare diseases are caused by a Mendelian genetic error. So far, more than 1800 genes associated with rare diseases have been identified 1 Varmus H Getting ready for gene-based medicine. N Engl J Med. 2002; 347: 1526-1527 Crossref PubMed Scopus (77) Google Scholar and, in many cases, their expression patterns and functions have been unravelled. This information is a prerequisite for development of a therapeutic strategy. Depending on the disease's severity, and by assessing feasibility and treatment alternatives, gene therapy can be viewed as an option in some instances (table2 O'Connor TP Crystal RG Genetic medicines: treatment strategies for hereditary disorders. Nat Rev Genet. 2006; 7: 261-276 Crossref PubMed Scopus (136) Google Scholar ). TableClinical trials for genetic disorders Disease Efficacy Toxic effects γ retrovirus (ex vivo) CD34 cells X-linked severe combined immunodeficiency Yes, 9 years Yes, insertional mutagenesis Adenosine deaminase deficiency Yes, 6 years No Chronic granulomatous disease Yes, transient Yes, insertional mutagenesis Fanconi's anaemia No No Skin stem cells Epidermolysis bullosa Yes, 10 months No Adeno-associated virus (in vivo) Muscle Haemophilia B Low level of expression No Liver Haemophilia B Yes, transient No Airway Cystic fibrosis No No Brain Ceroid lipofuscinosis No No Adenovirus (in vivo) Airway Cystic fibrosis No No Plasmids (liposomes; in vivo) Airway Cystic fibrosis No No Airway α antitrypsin deficiency No No Brain Canavan disease No No Muscle Muscular dystrophy No No A more comprehensive list of clinical trials can be found in 2 O'Connor TP Crystal RG Genetic medicines: treatment strategies for hereditary disorders. Nat Rev Genet. 2006; 7: 261-276 Crossref PubMed Scopus (136) Google Scholar . Open table in a new tab A more comprehensive list of clinical trials can be found in 2 O'Connor TP Crystal RG Genetic medicines: treatment strategies for hereditary disorders. Nat Rev Genet. 2006; 7: 261-276 Crossref PubMed Scopus (136) Google Scholar .