A Multicenter Real-world Observational Study of the Prevalence, Diagnostic Pathways, and Clinical Characteristics of Lysosomal Acid Lipase Deficiency in Pediatric and Adolescent Risk Groups in the Russian Federation (HELIOS)

What this Trial Is About

This research aims to understand the prevalence, diagnostic methods, and clinical features of lysosomal acid lipase deficiency (LAL-D) in children and adolescents considered at risk in the Russian Federation. It is a multicenter real-world observational study focusing on patients aged 12 months to 18 years who have not previously been tested for LAL-D. The study seeks to gather detailed information on how this condition presents and is diagnosed in routine clinical settings. Participants will not receive experimental treatments as this is an observational study. Instead, the study involves identifying patients with signs or symptoms that may suggest LAL-D, such as unexplained liver enlargement, persistent abnormal liver enzyme levels, or specific patterns of cholesterol abnormalities. Researchers will observe and record diagnostic pathways used and clinical characteristics without altering patient care. During the study, participants will undergo evaluations including genetic testing to confirm LAL-D by detecting decreased enzyme activity and specific genetic variants. The primary outcome is to estimate how many patients in the target age group with predefined risk factors have genetically confirmed LAL-D. Assessments will occur around 60 days after enrollment, with data collected on clinical signs, laboratory results, and family history. The study will continue until June 2028, providing insights into this rare condition in pediatric and adolescent populations.

Lysosomal Acid Lipase Deficiency in Risk Groups