Lysosomal Acid Lipase Deficiency in Risk Groups (NCT07455864) | Clinical Trial Compass
RecruitingNot Applicable
Lysosomal Acid Lipase Deficiency in Risk Groups
Russia1,200 participantsStarted 2026-02-25
Plain-language 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
Sex
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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;
Nausea, vomiting;
Belching, heartburn;
Weight loss, growth deceleration (height/weight lag behind peers);
Weakness, easy fatigability;
Recurrent aphthous stomatitis (oral mucosal ulcers);
Splenomegaly (if not counted as a major criterion);
Anemia and/or thrombocytopenia;
Evidence of steatosis/fibrosis by ultrasound/elastography/ liver examination by MRI;
Suboptimal response to lipid-lowering therapy: after ≥3 months of optimized therapy (maximally tolerated statin ± ezetimibe with documented adherence), LDL-C reduction \<50% from baseline OR on-treatment LDL-C remains above guideline targets (e.g., ≥3.4 mmol/L without very high risk or ≥2.6 mmol/L in very-high-risk settin…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
To estimate the proportion of patients with genetically confirmed LAL-D (defined by decreased LAL activity plus presence of biallelic pathogenic LIPA variants) among 12-month-to-18-year-old patients identified by predefined red flags.