Real life evidence of volanesorsen for Familial Chylomicronemia Syndrome in Colombia

Familial Chylomicronemia syndrome (FCS) is an ultrarare disorder associated with pathogenic variants in genes implicated in chylomicron metabolism such as LPL, APOA5, APOC2, GPIHBP1 and LMF1. Patients with FCS have severe hypertriglyceridemia complicated with recurrent episodes of pancreatitis. Volanesorsen is a treatment option for such patients. However, this treatment is not approved or available in all countries. Objective: To present the real-life evidence of clinical response to volanesorsen in patients with FCS in Colombia. Methods: All patients treated with volanesorsen in Colombia as of June 25, 2024, were included After informed consent, relevant clinical and laboratory data were obtained through review of clinical charts and records from the volanesorsen patient support program. Results: Ten patients with FCS and treated with volanesorsen were included. Most cases were caused by variants in LPL. 90% of cases had at least one episode of pancreatis, the mean number of pancreatitis was five. Median follow-up was 56.5 weeks (IQR 38.3-82.3). The median highest plasma triglyceride (TG) before treatment was 3111 mg/dL (IQR 1738-3810), while median lowest TG levels after treatment were 493 mg/dl (IQR 147-812). The mean percent decreases in plasma TG at months 1, 3, 6 and 12 were respectively 53.6%, 59.7%, 51.5% and 40,5%, respectively. There were no new pancreatitis episodes after initiation of volanesorsen treatment. Side effects were consistent with those reported in clinical trials. Conclusion: Real-life data of volanesorsen treatment for FCS in Colombia demonstrate efficacy and safety similar to pivotal clinical trials.

• Autores: Román González, Alejandro; Castellanos Pinedo, Alejandro Alberto; Perdomo Parrado, Diego Armando; Colón Peña, Christian Alejandro; Vargas Vergara, Juan José; Mendivil Anaya, Carlos Olimpo; Gutiérrez Restrepo, Johnayro
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2025
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/46056
• Acceso en línea: https://hdl.handle.net/10495/46056
• Palabra clave: Quilomicrones; Chylomicrons; Hipertrigliceridemia; Hypertriglyceridemia; Pancreatitis; Oligonucleótidos Antisentido; Oligonucleotides, Antisense; Ensayo Clínico; Clinical Trial; Volanesorsen; Familial Chylomicronemia syndrome (FCS); https://id.nlm.nih.gov/mesh/D002914; https://id.nlm.nih.gov/mesh/D015228; https://id.nlm.nih.gov/mesh/D010195; https://id.nlm.nih.gov/mesh/D016376; https://id.nlm.nih.gov/mesh/D016430; ODS 3: Salud y bienestar. Garantizar una vida sana y promover el bienestar de todos a todas las edades
• Rights: openAccess
• License: http://creativecommons.org/licenses/by-nc-nd/4.0/