Kalydeco with an FEV1 of ~27% (homozygous delta-F508)

Treatment with Kalydeco on patients with the homozygous delta-F508 mutation will apparently pass FDA muster in July. My girlfriend is twenty-five and her doctor has indicated that her current baseline FEV1 is around twenty-seven percent, that this treatment is intended for those with an FEV1 of thirty-five percent or higher. Can someone elucidate what he's talking about here? I fully intend to fight tooth and nail for this treatment on its approval, but I'm scared there's something I don't know that will make this impossible.
Source: Cystic Fibrosis CFTR Modulation and Gene Therapy Forum - Category: Respiratory Medicine Authors: Tags: CFTR Modulation and Gene Therapy Talk Source Type: forums

Related Links:

gner DE Abstract The University of Vermont Larner College of Medicine, in collaboration with the National Heart, Lung, and Blood Institute (NHLBI), the Alpha-1 Foundation, the American Thoracic Society, the Cystic Fibrosis Foundation, the European Respiratory Society, the International Society for Cell &Gene Therapy, and the Pulmonary Fibrosis Foundation, convened a workshop titled "Stem Cells, Cell Therapies, and Bioengineering in Lung Biology and Diseases" from July 24 through 27, 2017, at the University of Vermont, Burlington, Vermont. The conference objectives were to review and discuss current u...
Source: Am J Respir Cell Mol... - Category: Respiratory Medicine Authors: Tags: Am J Respir Cell Mol Biol Source Type: research
Abstract Localized aerosol delivery of gene therapies is a promising treatment of severe pulmonary diseases including lung cancer, cystic fibrosis, COPD and asthma. The administration of drugs by inhalation features multiple benefits including an enhanced patient acceptability and compliance. The application of a spray dried powder formulation has advantages over solutions due to their increased stability and shelf life. Furthermore, optimal sizes of the powder can be obtained by spray drying to allow a deep lung deposition. The present study optimized the parameters involved with spray drying polyplexes formed by...
Source: European Journal of Pharmaceutics and Biopharmaceutics - Category: Drugs & Pharmacology Authors: Tags: Eur J Pharm Biopharm Source Type: research
Abstract Sickle cell disease afflicts millions of people worldwide and approximately 100,000 Americans. Complications are myriad and arise as a result of complex pathological pathways 'downstream' to a point mutation in DNA, and include red blood cell membrane damage, inflammation, chronic hemolytic anemia with episodic vaso-occlusion, ischemia and pain, and ultimately risk of cumulative organ damage with reduced patient lifespan. The National Heart, Lung, and Blood Institute's 2014 evidence-based guideline for sickle cell disease -management states additional research is needed before investigational curative the...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
Gene Therapy, Published online: 12 July 2019; doi:10.1038/s41434-019-0092-5Beyond cystic fibrosis transmembrane conductance regulator therapy: a perspective on gene therapy and small molecule treatment for cystic fibrosis
Source: Gene Therapy - Category: Genetics & Stem Cells Authors: Source Type: research
Publication date: Available online 6 July 2019Source: International Journal of PharmaceuticsAuthor(s): Angélique Mottais, Mathieu Berchel, Tony Le Gall, Yann Sibiril, Frédérique d'Arbonneau, Véronique Laurent, Paul-Alain Jaffrès, Tristan MontierAbstractThe development of new antibacterial molecules is essential in view of the emergence of pathogenic strains resistant to multiple antibiotics. Among the infectious pathologies, pulmonary infections are particularly difficult to treat due to the complexity of lung anatomy and the presence of natural barriers such as mucus. At present, the aer...
Source: International Journal of Pharmaceutics - Category: Drugs & Pharmacology Source Type: research
Authors: Miah KM, Hyde SC, Gill DR Abstract Introduction: Cystic fibrosis (CF) remains a life-threatening genetic disease, with few clinically effective treatment options. Gene therapy and gene editing strategies offer the potential for a one-time CF cure, irrespective of the CFTR mutation class. Areas covered: We review emerging gene therapies and gene delivery strategies for the treatment of CF particularly viral and non-viral approaches with potential to treat CF. Expert opinion: It was initially anticipated that the challenge of developing a gene therapy for CF lung disease would be met relatively easily. Follo...
Source: Expert Review of Respiratory Medicine - Category: Respiratory Medicine Tags: Expert Rev Respir Med Source Type: research
Abstract Cystic fibrosis (CF) is an autosomal recessive disease caused by a mutant cystic fibrosis transmembrane conductance regulator (CFTR) gene and characterized by chronic bacterial lung infections and inflammation. Complementation with functional CFTR normalizes anion transport across the airway surface. Adeno-associated virus (AAV) is a useful vector for gene therapy because of its low immunogenicity and ability to persist for months to years. However, episomal expression may decrease following cell division and ultimately require readministration. To overcome this, we designed an integrating AAV-based CFTR ...
Source: American Journal of Respiratory Cell and Molecular Biology - Category: Molecular Biology Authors: Tags: Am J Respir Cell Mol Biol Source Type: research
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: E-Poster Sessions Source Type: research
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Orals Sessions Source Type: research
There ’s been an odd-sounding word circulating in the English headlines recently.The word is Orkambi; a drug created by Vertex that treats approximately 40% of people born with the genetic condition, cystic fibrosis. It is the second drug to market in a promising pipeline that targets the CFTR mutation.   True gene therapy it isn’t, but it represents a near-first for a biotech firm, by successfully altering the shape and function of a protein[1]. And priced at £105,000 per patient per year, it is the latest in a long line of medicines the NHS can’t afford.Orkambi has been licensed by the EMAsin...
Source: EyeForPharma - Category: Pharmaceuticals Authors: Source Type: news
More News: Cystic Fibrosis | Gene Therapy | Genetics | Respiratory Medicine