Advances in treatments for those with CF means there are more effective treatment options and people are living longer and healthier lives, enabling them to have families of their own.
Management of CF has traditionally been based on symptom relief. New modulator (next generation) drug therapy that improves or restores the function of cystic fibrosis transmembrane conductance regulator (CFTR) is targeted at specific genetic mutations. This personalised, or precision medicine, has been described as ‘theratyping’ and aims at identifying which individual mutations respond to particular CFTR modulators. It is hoped that 90% of mutations will be able to be treated with a specific combination of modulators by 2020 (Clancy et al, 2019).
Scientists involved in theratyping are testing approved modulators on CF cells grown in the laboratory situation looking for biomarkers that indicate the drug is working, and thus predict if the new generation combination drug will work in individuals that have those mutations. This approach enables drug approval to occur more quickly than in the conventional clinical trial approach. Work continues on new modulators, RNA therapy and gene editing in the hope that an effective treatment will be found for all with CF. Individuals with CF still experience a limited quality of life. Preventing or slowing lung damage and repairing the CF lung are the main goals of research.
Work continues on new modulators in an effort to find an effective treatment for all people with CF. Currently in Australia the CF community have access to Kalydeco®, Orkambi® and Symdeko® with many new modulator therapies emerging.
(Drug Development Pipeline, CFA)
Health Professional Resources:
- CF Drug Development Pipeline (CFA)
- Vertex Pharmaceuticals
- CFTR Modulator Theratyping (Clancy, et al)
Women with CF are now surviving into their reproductive years and manage to have successful pregnancies. Most women have acceptable outcomes from their pregnancies, however, Body Mass Index (BMI) and lung function were significant predictors of foetal complications (Lau, Barnes, Moriarty, Dentice, Civitico, Avedello & Torzillo, 2011). Pregnancy should be planned and involvement of genetic counselling for the couple should be part of the support team. Prior planning can help to optimise lung health and weight, which can lead to improved outcomes for mother and infant. Medications should be reviewed preconception so those that may affect foetal development are ceased. The CF pregnancy is considered high risk and should be managed at a tertiary centre.
Most CF males are infertile due to a congenital absence of the vas deferens and should consider having a semen analysis as part of family planning. Most males with CF produce normal sperm and couples may benefit from assisted reproductive technology.
Health Professional Resources:
- Genetic Services WA
- Health Professional Referral Guidelines (King Edward Memorial Hospital)
- Carrier Screening Program (Cystic Fibrosis Community Care)
- Pregnancy Outcomes in CF (Lau, et al)
- Outcomes of Pregnancy in Women with CF taking CFTR Modulators (Nash, et al)