Lysosomal Acid Lipase Deficiency in Risk Groups

NCT07455864 | Terminated

• 1 other identifier: D7720R00001
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 2

Brief 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)

Conditions

Lysosomal Acid Lipase Deficiency

Outcome Measures

Primary Outcomes (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.

  To achieve the primary objectives of the study the following baseline clinical and demographic characteristics of patients will be collected or evaluated. Proportion (%), with 95% confidence interval, of patients with genetically confirmed LAL-D among screened participants (confirmation by LIPA sequencing following detection of decreased LAL activity in DBS)

  Day 60 (Visit 2)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Pediatric participants (aged 12 months to 18 years) identified by predefined pediatric red flags for LAL-D and undergoing a standardized diagnostic workflow will be enrolled in in pediatric hepatology, gastroenterology, and cardiology/lipid clinics. The study population is planned to comprise 1,200 participants in approximately 50 pediatric clinical centers across multiple regions of the Russian Federation. Eligible patients will be enrolled consecutively at each site to minimize selection bias at each site. Enrollment will occur only after the parent(s)/legal guardian(s) (and the child, where applicable) provide informed consent/assent following a detailed explanation of the study objectives and procedures by the study physician.

You may qualify if:

• 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;
• 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);

You may not qualify if:

• Confirmed alternative etiology fully explaining liver disease/dyslipidemia (e.g., hepatitis A/B/C, autoimmune hepatitis by diagnostic criteria) without grounds to suspect LAL-D;
• Wolman disease;

Sponsors & Collaborators

• AstraZeneca: lead

Study Sites (2)

Research Site

Saint Petersburg, Russia

Location

Research Site

Samara, Russia

Location

MeSH Terms

Conditions

Wolman Disease

Condition Hierarchy (Ancestors)

Cholesterol Ester Storage Disease; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Infant, Newborn, Diseases; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 3, 2026
• First Posted: March 6, 2026
• Study Start: February 25, 2026
• Primary Completion: June 4, 2026
• Study Completion: June 4, 2026
• Last Updated: July 8, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will share
• Time Frame: AstraZeneca will meet or exceed data availability as per the commitments made to the EFPIA PhRMA Data Sharing Principles. For details of our timelines, please rerefer to our disclosure commitment at https://astrazenecagrouptrials.pharmacm.com/ST/Submission/Disclosure.
• Access Criteria: When a request has been approved AstraZeneca will provide access to the anonymized individual patient-level data via secure research environment Vivli.org. Signed Data Usage Agreement (non-negotiable contract for data accessors) must be in place before accessing requested information.

Locations

RU (2)