PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency.

Abstract

PEG-ADA is a long-circulating form of adenosine deaminase (ADA) that has been in use for > 8 years as replacement therapy for severe combined immunodeficiency disease due to ADA deficiency. Treatment with PEG-ADA almost completely corrects metabolic abnormalities, allowing the recovery of a variable degree of immune function. Although not normal, the level of function achieved has in most cases been sufficient to protect against opportunistic and life-threatening infections. PEG-ADA has been used as an alternative for patients who lack an HLA-identical bone marrow donor, but are judged to be at too high a risk for undergoing HLA-haploidentical marrow transplantation. To date, mortality and morbidity with PEG-ADA have been less than for the latter procedure. PEG-ADA has also been an important adjunct to attempts to develop somatic cell gene therapy for ADA deficiency, although its continued use poses a problem for evaluation of the benefit of gene therapy. As a true "orphan drug" developed to treat a very small patient population, the cost per patient of PEG-ADA is very high.

• Authors: M S Hershfield
• Journal: Human mutation (Hum Mutat) Vol. 5 Issue 2 Pg. 107-12 ( 1995) ISSN: 1059-7794 [Print] United States
• PMID: 7749407 (Publication Type: Comparative Study, Journal Article, Review)

Chemical References

• Adenosine Deaminase
• pegademase bovine

Topics

• Adenosine Deaminase (chemistry, deficiency, pharmacology)
• Adolescent
• Adult
• Bone Marrow Transplantation
• Child
• Genetic Therapy
• Haplotypes
• Humans
• Infant
• Severe Combined Immunodeficiency (drug therapy, genetics, therapy)