mini comp

1. An agency of the European Union
Antonicaftor
Treatment of cystic fibrosis
EMA/OD/156/16
Gaudipharm (Europe) Limited
Presented by K Larsson

2. Cystic fibrosis is a lethal genetic orphan disease
Reduced lung function
Chronic lung infections
Lung inflammation
Bronchiectasis
Sinusitis
Nasal polyps
Failure to thrive/gain weight
Digestive problems
Intestinal blockages
Pancreatic insufficiency
leading to malnutrition
CF-related diabetes
Liver disease
Salty sweat
Reduced fertility
Infertility
O’Sullivan BP, Freedman SD. Lancet. 2009;373:1891-1904.
Worldwide prevalence ~70,000; life expectancy ~40 years
1

3. Pathophysiology of CF Lung Disease
2
CFTR gene mutation
Reduced quantity &/or function of
CFTR
CFNormal
and/or

4. Pathophysiology of CF Lung Disease
3
CFTR gene mutation
Reduced quantity &/or function of
CFTR
Altered ion transport
Thickened secretions
Mucus plugging
CFNormal
Cl-
H2O
H2O
Na+
ASL
H2O
H2O
H2O
Na+
ASL

5. Conclusions
• Cystic fibrosis is a distinct medical entity
• CF is life threatening and chronically debilitating
• Medical plausibility can be justified
• Prevalence can be approximated at less than 1 in 10,000
• Significant benefit – hypothesis acceptable
• Need for protocol assistance
4