Lysosomal Acid Lipase Deficiency in Risk Groups
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)
| Condition(s) | Lysosomal Acid Lipase Deficiency |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | 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) |
| Who can participate | Inclusion Criteria Age 12 months to 18 years (infantile form is out of scope for the analytical component); Patients not previously evaluated for LAL-D (test-naïve); Presence of at least one (1) of the following major criteria: Unexplained hepatomegaly and/or splenomegaly persisting ≥3 months; Persistent hypertransaminasemia: ALT or AST ≥ 1.5× upper limit of normal (ULN) after exclusion of common metabolic/infectious causes; Atherogenic dyslipidemia: elevated total cholesterol (TC), elevated LDL-C and/or reduced HDL-C (LDL-C \>95th percentile for age and sex or HDL-C \<5th percentile); triglycerides not markedly elevated. Presence of at least two (2) of the following minor criteria: Chronic diarrhea or intermittent unstable bowel movements; Abdominal pain and/or bloating; Loss of appetite; |
| Sex | All |
| Lead sponsor | AstraZeneca |
| Locations | Nizhny Novgorod, Russia; Petrozavodsk, Russia; Rostov-on-Don, Russia; Saint Petersburg, Russia |
| Start date | 2026-02-25 |
| NCT ID | NCT07455864 |
| Official listing | https://clinicaltrials.gov/study/NCT07455864 |