The effect of augmentation therapy with any alpha 1-proteinase inhibitor (alpha 1-PI) on pulmonary exacerbations and on the progression of emphysema in alpha 1-antitrypsin deficiency
has not been demonstrated in randomized, controlled clinical trials.
Steven Tuffin, 27, of Maghull, was born with a rare genetic liver condition - alpha 1-antitrypsin deficiency
Serum alpha 1-antitrypsin deficiency
associated with the common S-type (glu264--val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion.
According to Halperin, the 50-year-old has been diagnosed with Alpha 1-antitrypsin deficiency
, a genetic condition that can be fatal in severe cases.
Screening for homozygous and heterozygous alpha 1-antitrypsin deficiency
Mum-of-one Pauline, 41, of Edinburgh, a former nurse at the city's Royal Infirmary who has Alpha 1-antitrypsin deficiency
, is now campaigning for all Scots lung disease sufferers to get oxygen at a cost of pounds 450 a month.
Despite these successful results, Crystal predicts that emphysema caused by alpha 1-antitrypsin deficiency
will probably not be the first human disease treated by nasally administered gene therapy, since the disease is already treatable by other means.
Alpha 1-Antitrypsin Deficiency
is an hereditary disease occasionally leading to hepatitis and cirrhosis.
BioScience processes recombinant and plasma-based proteins to treat haemophilia and other bleeding disorders; plasma-based therapies to treat immune deficiencies, alpha 1-antitrypsin deficiency
, burns and shock, and other chronic and acute blood-related conditions; products for regenerative medicine, such as biosurgery products; and vaccines.
The paper entitled, "Targeted Gene Correction of Alpha 1-Antitrypsin Deficiency
in Induced Pluripotent Stem Cells" describes highly specific and efficient ZFN-mediated correction of a defective human A1AT gene in iPSCs derived from skin cells from individuals with alpha 1-antitrypsin deficiency
Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency
BioScience - manufactures recombinant and plasma-based proteins to treat haemophilia and other bleeding disorders; plasma-based therapies to treat immune deficiencies, alpha 1-antitrypsin deficiency
, burns and shock, and other chronic and acute blood-related conditions; products for regenerative medicine, such as biosurgery products and technologies used in adult stem-cell therapies; and vaccines.