Efficacy of morphine on cough in patients with repeat expansions of RFC1 and refractory chronic cough
Year: 2025
Type: article
Abstract: Extract Unexplained and Refractory Chronic Cough (URCC) is a challenging condition in clinical practice. Indeed, the diagnostic work-up is particularly complex due to the high proportion of patients with non-obvious cause of cough [1]. Moreover, the treatment is also a problematic step in the management of URCC patients, considering the paucity of therapeutic options available. Recently, we have shown that 16.2% of patients with URCC have biallelic repeat expansion of RFC1 (RERFC1) and 8.8% monoallelic RE-RFC1 [2]. This genetic trait is observed in a rare disease called CANVAS for Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome [3]. It is now established that chronic cough is a common and early symptom of CANVAS, frequently occurring years to decades before other core symptoms [4]. In CANVAS, cough is a very debilitating symptom, leading to an important alteration in quality of life. The mechanisms of cough due to RERFC1 remain unknown, and no drug has yet emerged as a therapeutic option for cough in patients with CANVAS.
Source: ERJ Open Research
Institutions: Centre National de la Recherche Scientifique, Université Toulouse III - Paul Sabatier, Inserm, Centre Hospitalier Universitaire de Toulouse, Institut Toulousain des Maladies Infectieuses et Inflammatoires, Centre Hospitalier Universitaire de Limoges, Neuropathies Périphériques et Innovations Thérapeutiques, Université de Limoges
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $808
OpenAlex ID: W4417251748