The recent framework agreement between the Universidad Politécnica de Madrid and the Fundación para la Investigación Biomédica del Hospital Infantil Universitario Niño Jesús will allow the assessment of physical condition and the design of therapeutic exercise programs for patients with lung disease at the hospital, and in particular to analyze the effect of exercise on muscle function and physical condition in patients receiving triple therapy with CFTR modulators (elexacaftor + tezacaftor + ivacaftor) as well as to record whether exercise can reduce the side effects of such therapy.
Scientific evidence supports the benefit of physical exercise as part of the therapy for patients with chronic respiratory diseases, however, there must be a planning adapted to each patient. In this sense, Professor Margarita Pérez Ruiz has just joined the ImFINE group. She is a Medical Doctor specialized in Sports Medicine, who has a long research career in the application of exercise programs for the treatment of chronic pathologies in children, and especially in cystic fibrosis.
Dra. Margarita Pérez
She has been involved since 2009 in the application of exercise programs in respiratory pathologies, especially asthma, exercise-induced bronchospasm and cystic fibrosis.
Her work has had a relevant weight getting the Spanish Society of Pediatric Pneumology to consider it advisable to make annual assessments of the physical condition of children with cystic fibrosis, since oxygen consumption (VO2 peak) is a prognostic variable for the evolution of the disease.
Cystic fibrosis (CF) is one of the most common rare autosomal recessively inherited life-shortening diseases; it is most prevalent in Europe, North America and Australia. Historically, and regardless of a country’s geography or economic wealth, most CF-affected infants born in the middle of the last century would have had very little chance of surviving to adulthood as there were no effective therapies. Survival in early childhood changed dramatically in the mid-1980s, neonatal screening together with regular follow-up of the disease in specialized care units managed to increase life expectancy and they now reach adulthood. Of the 2000 different CFTR mutations, the most common is F508del. In Spain, 40-60% of patients have this mutation, with the Basque Country and Barcelona being two highly affected regions.
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators have emerged in recent years and this therapy represents a paradigm shift in the CF treatment landscape. The effects of CFTR modulators on respiratory function, pulmonary exacerbations and quality of life have been documented, but there are many questions to be resolved about the effect of these modulators on extra pulmonary systems resulting from receptor dysfunction in almost all tissues and there is also a need to analyze the potential side effects of a therapy that needs to be taken for life.
A project funded by the Spanish Society of Pneumology and Thoracic Surgery (SEPAR) entitled “Effect of novel modulator therapy on physical fitness, lung function, body composition, CFTR and miRNAS receptor function in CF patients: an integrated view on quality of life. Clinical crossover trial.”
[i] Pérez M, Groeneveld IF, Santana-Sosa E, Fiuza-Luces C, Gonzalez-Saiz L, Villa-Asensi JR, López-Mojares LM, Rubio M, Lucia A. Aerobic fitness is associated with lower risk of hospitalization in children with cystic fibrosis. Pediatr Pulmonol. 2014 Jul;49(7):641-9. doi: 10.1002/ppul.22878. Epub 2013 Sep 9. PMID: 24019231. https://pubmed.ncbi.nlm.nih.gov/24019231/
[ii] Vega I, Larumbe-Zabala E, Pérez-Ruiz M. Effects of a Short-Term Resistance- Training Program on Heart Rate Variability in Children With Cystic Fibrosis-A Randomized Controlled Trial. Front Physiol. 2021 Mar 30;12:652029. doi: 10.3389/fphys.2021.652029. PMID: 33859572; PMCID: PMC8042150. https://pubmed.ncbi.nlm.nih.gov/33859572/