ORKAMBI (lumacaftor/ivacaftor)
CYSTIC FIBROSIS TRANSMEMB. CONDUCT. REG. (CFTR) POTENTIATORS·CYSTIC FIBROSIS WITH HOMOZYGOUS F508DEL MUTATION IN CFTR GENE
VERTEX PHARMACEUTICAL
Indication
Cystic fibrosis with homozygous F508del mutation in CFTR gene
Cystic fibrosis with a homozygous F508del mutation in the CFTR gene is an autosomal recessive, multi-organ genetic disorder characterized by the presence of two identical copies of the class II deletion of phenylalanine at position 508 in the cystic fibrosis transmembrane conductance regulator (*CFTR*) gene. Read more about Cystic fibrosis with homozygous F508del mutation in CFTR gene
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Common Cystic fibrosis with homozygous F508del mutation in CFTR gene therapies.
SYMDEKO (tezacaftor/ivacaftor)
CYSTIC FIBROSIS TRANSMEMB. CONDUCT. REG. (CFTR) POTENTIATORS·CYSTIC FIBROSIS WITH HOMOZYGOUS F508DEL MUTATION IN CFTR GENE·+1
VERTEX PHARMACEUTICAL
ORKAMBI (lumacaftor/ivacaftor)
CYSTIC FIBROSIS TRANSMEMB. CONDUCT. REG. (CFTR) POTENTIATORS·CYSTIC FIBROSIS WITH HOMOZYGOUS F508DEL MUTATION IN CFTR GENE
VERTEX PHARMACEUTICAL
TRIKAFTA (elexacaftor/tezacaftor/ivacaftor)
CYSTIC FIBROSIS TRANSMEMB. CONDUCT. REG. (CFTR) POTENTIATORS·CYSTIC FIBROSIS WITH HOMOZYGOUS F508DEL MUTATION IN CFTR GENE·+1
VERTEX PHARMACEUTICAL
ALYFTREK (vanzacaftor calcium/tezacaftor/deutivacaftor)
CYSTIC FIBROSIS TRANSMEMB. CONDUCT. REG. (CFTR) POTENTIATORS·CYSTIC FIBROSIS WITH HOMOZYGOUS F508DEL MUTATION IN CFTR GENE·+2
VERTEX PHARMACEUTICAL
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Coming soonCystic fibrosis with a homozygous F508del mutation in the CFTR gene is an autosomal recessive, multi-organ genetic disorder characterized by the presence of two identical copies of the class II deletion of phenylalanine at position 508 in the cystic fibrosis transmembrane conductance regulator (*CFTR*) gene.
This specific genotype leads to abnormal protein folding and premature endoplasmic reticulum degradation, severely depleting functional chloride and bicarbonate channels at epithelial apical surfaces across the respiratory, gastrointestinal, pancreatic, hepatobiliary, and reproductive tracts.
The resulting defect impairs epithelial ion and fluid transport, driving the accumulation of thick, dehydrated secretions that precipitate chronic airway obstruction, recurrent bronchopulmonary infections, bronchiectasis, and progressive exocrine pancreatic insufficiency.
- nih.gov
Cystic fibrosis with a homozygous F508del mutation in the CFTR gene is an autosomal recessive, multi-organ genetic disorder characterized by the presence of two identical copies of the class II deletion of phenylalanine at position 508 in the cystic fibrosis transmembrane conductance regulator (*CFTR*) gene This specific genotype leads to abnormal protein folding and premature endoplasmic reticulum degradation, severely depleting functional chloride and bicarbonate channels at epithelial apical ...
- youtube.com
Cystic fibrosis with a homozygous F508del mutation in the CFTR gene is an autosomal recessive, multi-organ genetic disorder characterized by the presence of two identical copies of the class II deletion of phenylalanine at position 508 in the cystic fibrosis transmembrane conductance regulator (*CFTR*) gene This specific genotype leads to abnormal protein folding and premature endoplasmic reticulum degradation, severely depleting functional chloride and bicarbonate channels at epithelial apical ...
- nih.gov
Cystic fibrosis with a homozygous F508del mutation in the CFTR gene is an autosomal recessive, multi-organ genetic disorder characterized by the presence of two identical copies of the class II deletion of phenylalanine at position 508 in the cystic fibrosis transmembrane conductance regulator (*CFTR*) gene
- nih.gov
This specific genotype leads to abnormal protein folding and premature endoplasmic reticulum degradation, severely depleting functional chloride and bicarbonate channels at epithelial apical surfaces across the respiratory, gastrointestinal, pancreatic, hepatobiliary, and reproductive tracts The resulting defect impairs epithelial ion and fluid transport, driving the accumulation of thick, dehydrated secretions that precipitate chronic airway obstruction, recurrent bronchopulmonary infections, b...
- e-century.us
The resulting defect impairs epithelial ion and fluid transport, driving the accumulation of thick, dehydrated secretions that precipitate chronic airway obstruction, recurrent bronchopulmonary infections, bronchiectasis, and progressive exocrine pancreatic insufficiency
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