Bardin E, Pranke I, Giorgi M
… +2 more, Kelly-Aubert M, Sermet-Gaudelus I
Rev Prat
· 2025 Oct · PMID 41575088
TREATMENT PERSPECTIVES FOR PATIENTS NOT ELIGIBLE FOR PROTEIN THERAPIES FOR CYSTIC FIBROSIS. The vast majority of patients with cystic fibrosis can benefit from proteic therapy. 10% of patients remain without therapeutic...TREATMENT PERSPECTIVES FOR PATIENTS NOT ELIGIBLE FOR PROTEIN THERAPIES FOR CYSTIC FIBROSIS. The vast majority of patients with cystic fibrosis can benefit from proteic therapy. 10% of patients remain without therapeutic access. RNA editing strategies such as antisense oligonucleotides for specific splice mutations or RNA editing are now in the clinical phase. Gene therapy, DNA editing or readthrough therapies face numerous challenges in terms of vectorization and efficiency. Strong interactions between academic laboratories, harmaceutical industries, associations and health authorities may be unable to consider that in the near future, cystic fibrosis is no longer a f atal disease.
PROGNOSTIC IMPACT OF NEW TREATMENTS FOR CYSTIC FIBROSIS. The prognosis of cystic fibrosis has improved over the past 25 years, due to the introduction of widespread neonatal screening, a structured organization of care a...PROGNOSTIC IMPACT OF NEW TREATMENTS FOR CYSTIC FIBROSIS. The prognosis of cystic fibrosis has improved over the past 25 years, due to the introduction of widespread neonatal screening, a structured organization of care and advances in symptomatic treatments. The large use of CFTR protein modulators represents a new stage in the improvement of prognosis and median survival estimates. This is reflected in a steady increase in the adult patient population, an ageing population associated with the onset of metabolic and cardiovascular complications, and more frequent cancers, particularly gastrointestinal. As a result, current symptomatic treatments are being reduced and follow-up recommendations adapted to these new challenges. However, the treatment effect is merely suspensive, and its long-term efficacy and safety have yet to be assessed.
THERAPEUTIC REVOLUTION FOR CYSTIC FIBROSIS. Cystic fibrosis is an autosomal recessive disease due to mutations or variants in the CFTR gene which encodes the CFTR protein. Since the cloning of the CFTR gene thirty years...THERAPEUTIC REVOLUTION FOR CYSTIC FIBROSIS. Cystic fibrosis is an autosomal recessive disease due to mutations or variants in the CFTR gene which encodes the CFTR protein. Since the cloning of the CFTR gene thirty years ago, intense basic research paved the way to the development of therapies called CFTR modulators. The first CFTR modulator was marketed in 2012 and they are now available for more than 85% of patients in France. Patients are eligible for these oral treatments depending on the variants they bear. CFTR modulators bind to the CFTR protein, improve its function and improvement of clinical disease is observed. For the most effective CFTR modulators, respiratory symptoms decrease or disappear, respiratory function is improved, and it is likely that life expectancy will also improve. These different CFTR modulators are a therapeutic revolution for most people with cystic fibrosis.
NEWBORN SCREENING FOR CYSTIC FIBROSIS. Neonatal screening for cystic fibrosis enables pre-symptomatic identification of infants with cystic fibrosis. The challenge for the multidisciplinary team at the cystic fibrosis re...NEWBORN SCREENING FOR CYSTIC FIBROSIS. Neonatal screening for cystic fibrosis enables pre-symptomatic identification of infants with cystic fibrosis. The challenge for the multidisciplinary team at the cystic fibrosis resource and competence centers is to set up a medical follow-up program to prevent nutritional and respiratory complications. Neonatal screening also identifies a cohort of newborns with suspected cystic fibrosis who do not meet the classic criteria for the disease. These non-conclusive forms do not have a clearly established prognosis or management.
DON'T LOSE HOPE ! Neuropathic pain represents a major challenge in the diagnosis and initiation of treatment. This article provides an overview of its definition, epidemiology, and common etiologies. Current diagnostic t...DON'T LOSE HOPE ! Neuropathic pain represents a major challenge in the diagnosis and initiation of treatment. This article provides an overview of its definition, epidemiology, and common etiologies. Current diagnostic tools, such as the DN4 questionnaire, are highlighted for their practicality in daily clinical use. The therapeutic section covers first-line treatments, such as antidepressants (duloxetine, amitriptyline) and antiepileptics (gabapentin, pregabalin), emphasizing dosage and patient management in primary care. Non-pharmacological treatments, including physical therapy, adapted physical activity, and psychological support, are also discussed. This multimodal approach is crucial for effective management, especially in chronic cases, while referral to pain specialists is recommended for complex or refractory cases. By adopting these strategies, GPs can offer significant relief to patients with neuropathic pain, improving their quality of life and reducing the burden on the healthcare system.