"CFTR-opathies": disease phenotypes associated with cystic fibrosis transmembrane regulator gene
Vertex Pharmaceuticals announces that the European Medicines Agency's Committee for Medicinal Products for Human Use adopted a positive opinion for KALYDECO to include the treatment of people with cystic fibrosis aged 12 to less than24 months who have at least one of the following nine mutations in their cystic fibrosis transmembrane conductance regulator gene
: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R.
Fusco et al., "FOXN1: a master regulator gene
of thymic epithelial development program," Frontiers in Immunology, vol.
It is a novel oral drug designed to target the resolution of chronic inflammation and debilitating fibrosis associated with disease progression in cystic fibrosis across all cystic fibrosis transmembrane conductance regulator gene
Washington, June 18 ( ANI ): A master regulator gene
needed for the development of M cells, a mysterious type of intestinal cell involved in initiating immune responses, has been identified.
(3) The disease, which is a rare autosomal recessive disorder, is caused by mutations in the autoimmune regulator gene
(AIRE) that has been mapped to chromosome region 21q22.3.
Since the identification of the cystic fibrosis transmembrane conductance regulator gene
(CFTR)  in 1989 (1), more than 1500 variants have been identified (http://www.genet.sickkids.on.ca/cftr).
The Tag-It test identifies 43 of the more than 1,300 genetic variations identified by researchers in the cystic fibrosis transmembrane conductance regulator gene
. These 43 variations can identify approximately 80% of people who have or carry the disease.
The CADTH Canadian Drug Expert Committee has recommended that Vertex's lumacaftor/ivacaftor not be reimbursed for the treatment of cystic fibrosis in patients aged six years and older who are homozygous for the F508del mutation in the cystic fibrosis transmembrane conductance regulator gene
. The committee said that "Although two double- blind, randomized controlled trials demonstrated that treatment with LUM 400 mg every 12 hours/IVA 250 mg every 12 hours was associated with statistically significant absolute improvements in per cent predicted forced expiratory volume in one second compared with placebo, the magnitude of improvement was of uncertain clinical significance.
business has received the Pharmaceutical Benefits Advisory Committee's recommendation for Orkambi (lumacaftor/ivacaftor) to be listed on the Pharmaceutical Benefits Scheme in Australia for people ages six and over with cystic fibrosis who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator gene
, the company said.
The drug has received approval for children with cystic fibrosis who have one of ten mutations in the cystic fibrosis transmembrane conductance regulator gene
, G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, S549R and R117H.
The strain also had the binary toxin genes and contained an 18-bp deletion in a toxin regulator gene