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Gene therapy for rare (orphan) diseases

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Gene therapy is a logical way to treat rare genetic diseases; cure a single gene defect by introducing a 'correct' gene. The first gene-therapy trials were conducted using patients with rare monogenetic disorders, but these are now outnumbered by the clinical testing of gene therapeutics for more common conditions, such as cancer, AIDS and cardiovascular disease. This is partly due to a failure to achieve long-term gene expression with early vector systems, a critical requirement for correcting many inborn genetic defects. Now, with the advent of adeno-associated viral (AAV), lentiviral and other vector systems, which demonstrate persistent and whole body systemic gene expression in animal studies this technological barrier may have been overcome. Definitions can be broadened to include nonviral vectors, such as antisense oligonucleotides, CRISPR/cas9 and small interfering RNAs or miRNAs, to control excessive or deleterious gene expression together with areas of genetic modification of stem cells.

A disease or disorder is defined as rare (orphan) in Europe when it affects less than 1 in 2000. One rare disease may affect only a handful of patients in the EU, and another touch as many as 245,000.There are more than 7000 rare diseases. On the whole, rare diseases may affect more than 30 million European Union citizens. 80% of rare diseases are of genetic origin, and are often chronic and life-threatening with 75% affecting children.

Our scope is to review the field of genetic "Orphan drugs", gene based medicinal products intended for diagnosis, prevention or treatment of life-threatening or very serious diseases or disorders that are rare. Diseases that have been shown to benefit from gene therapy in clinical trials include among others adenosine deaminase-severe combined immunodeficiency (ADA-SCID), X-linked SCID, homozygous familial hypercholesterolemia, lipoprotein lipase deficiency, Leber’s congenital amaurosis and adrenoleukodystrophy. The Orphan Drug Regulation (ODR) framework in European Community is under the umbrella of the Committee for Orphan Medicinal Products (COMP) which reviews applications for an ‘orphan designation’ under a defined number of criteria. Recent successes in the field of treating rare diseases and an overview including the current state of the art, clinical phase trials and the first EMA approved market authorized product (Glybera) will also be reported.


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Gene therapy is a logical way to treat rare genetic diseases; cure a single gene defect by introducing a 'correct' gene. The first gene-therapy trials were conducted using patients with rare monogenetic disorders, but these are now outnumbered by the clinical testing of gene therapeutics for more common conditions, such as cancer, AIDS and cardiovascular disease. This is partly due to a failure to achieve long-term gene expression with early vector systems, a critical requirement for correcting many inborn genetic defects. Now, with the advent of adeno-associated viral (AAV), lentiviral and other vector systems, which demonstrate persistent and whole body systemic gene expression in animal studies this technological barrier may have been overcome. Definitions can be broadened to include nonviral vectors, such as antisense oligonucleotides, CRISPR/cas9 and small interfering RNAs or miRNAs, to control excessive or deleterious gene expression together with areas of genetic modification of stem cells.

A disease or disorder is defined as rare (orphan) in Europe when it affects less than 1 in 2000. One rare disease may affect only a handful of patients in the EU, and another touch as many as 245,000.There are more than 7000 rare diseases. On the whole, rare diseases may affect more than 30 million European Union citizens. 80% of rare diseases are of genetic origin, and are often chronic and life-threatening with 75% affecting children.

Our scope is to review the field of genetic "Orphan drugs", gene based medicinal products intended for diagnosis, prevention or treatment of life-threatening or very serious diseases or disorders that are rare. Diseases that have been shown to benefit from gene therapy in clinical trials include among others adenosine deaminase-severe combined immunodeficiency (ADA-SCID), X-linked SCID, homozygous familial hypercholesterolemia, lipoprotein lipase deficiency, Leber’s congenital amaurosis and adrenoleukodystrophy. The Orphan Drug Regulation (ODR) framework in European Community is under the umbrella of the Committee for Orphan Medicinal Products (COMP) which reviews applications for an ‘orphan designation’ under a defined number of criteria. Recent successes in the field of treating rare diseases and an overview including the current state of the art, clinical phase trials and the first EMA approved market authorized product (Glybera) will also be reported.


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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