The company Boehringer Ingelheim España has collaborated with the Instituto de Investigaciones Biomédicas Sols-Morreale (IIBM), CSIC-UAM in the detection of the possible telomere shortening in patients of familiar or idiopathic pulmonary fibrosis for the last five years.
Pulmonary fibrosis is a progressive, life-threatening disease with an estimated overall survival of 3-5 years and without curative treatment at the present time. It is the most frequent interstitial pulmonary disease and the one with the worst prognosis.
The presentation can be sporadic (idiopathic) or in families with several affected individuals (familiar). In both cases, the patients can present telomere shortening in up to the 40% of the cases in the familiar presentation. The presence of short telomeres is related with worse prognostic because it is associated to premature aging of the lung tissue and decreased capacity of repair in response to environmental damages such as pollution or tobacco smoke among others. The size of telomeres has some variability in the healthy population between values that decrease with age. Telomere size is considered relevant in the patients when it is below the one corresponding to the 10% of the population of the same age with the shortest telomeres. Besides the prognosis value, the existence of short telomeres requires a specific treatment of the patients in case of pulmonary transplantation.
Because of these reasons, the group of Drs. Rosario Perona and Leandro Sastre, of the group Telomeric Diseases and Experimental Therapies of the IIBM and members of CIBERER, implemented a protocol to determine telomere relative size non-invasively from bucal swabs. For the collection of the samples and interpretation of the data collaborated with Dr. María Molina Molina (IDIBell and CIBERES) and the company Boehringer Ingelheim. This collaboration started in 2019 and has continued until the present year 2024. The collaboration with Boehringer Ingelheim has been fundamental for the diffusion of the project in the Pneumology services of the hospitals. In addition, the company has financed the collection of the samples and their analysis at the IIBM. Until now we have analyzed 880 samples from familial pulmonary fibrosis patients from 70 hospitals free of charge.
The results obtained during these years have shown that 30% of the analyzed patients present a telomere size similar to or lower than that of the 10% of the general population with shortest telomeres. Among them, 14% presented telomeres shorter than the 1% of the general population. The data obtained for each patient were informed to the correspondent clinicians for their best management.
The information on telomere length allows pneumologists to provide a personalized treatment to the patients. In addition, the data provided allowed to select some patients for genetic analyses by exome sequencing looking for the possible mutations causative of the disease. Some of these studies have been extended to the relatives to determine the transmission of the disease and to provide genetic counselling.
This agreement with the company Boehringer Ingelheim has allowed the establishment of collaboration with the Pneumology services from numerous hospitals in our country. The benefits have been crucial, both for the clinicians and the patients, allowing the accurate diagnosis of the disease and the personalized treatment of the patients.
The image shows VA13 cells with telomeres in red, the Tert subunit of the telomerase complex in green and the nuclei in blue.