Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis
| Autor: | M, Wilschanski, L L, Miller, D, Shoseyov, H, Blau, J, Rivlin, M, Aviram, M, Cohen, S, Armoni, Y, Yaakov, T, Pugatsch, T, Pugatch, M, Cohen-Cymberknoh, N L, Miller, A, Reha, V J, Northcutt, S, Hirawat, K, Donnelly, G L, Elfring, T, Ajayi, E, Kerem |
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| Rok vydání: | 2011 |
| Předmět: |
Pulmonary and Respiratory Medicine
Adult Male medicine.medical_specialty Evening Cystic Fibrosis Nonsense mutation Cystic Fibrosis Transmembrane Conductance Regulator Cystic fibrosis Pulmonary function testing chemistry.chemical_compound Internal medicine medicine Humans Morning Oxadiazoles business.industry Middle Aged medicine.disease Prognosis Stop codon Ataluren Endocrinology Treatment Outcome Tolerability chemistry Cough Codon Nonsense Codon Terminator Female business Ribosomes |
| Zdroj: | The European respiratory journal. 38(1) |
| ISSN: | 1399-3003 |
| Popis: | In a subset of patients with cystic fibrosis (CF), nonsense mutations (premature stop codons) disrupt production of full-length, functional CF transmembrane conductance regulator (CFTR). Ataluren (PTC124) allows ribosomal readthrough of premature stop codons in mRNA. We evaluated drug activity and safety in patients with nonsense mutation CF who took ataluren three times daily (morning, midday and evening) for 12 weeks at either a lower dose (4, 4 and 8 mg·kg(-1)) or higher dose (10, 10 and 20 mg·kg(-1)). The study enrolled 19 patients (10 males and nine females aged 19-57 yrs; dose: lower 12, higher seven) with a classic CF phenotype, at least one CFTR nonsense mutation allele, and an abnormal nasal total chloride transport. Both ataluren doses were similarly active, improving total chloride transport with a combined mean change of -5.4 mV (p |
| Databáze: | OpenAIRE |
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