Actively Recruiting

All Genders
NCT07455864

Lysosomal Acid Lipase Deficiency in Risk Groups

Led by AstraZeneca · Updated on 2026-04-14

1200

Participants Needed

2

Research Sites

122 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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

Official Title

Lysosomal Acid Lipase Deficiency in Risk Groups

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Age 12 months to 18 years (infantile form is not included)
  • Patients not previously tested for lysosomal acid lipase deficiency (LAL-D)
  • Presence of at least one major criterion: unexplained liver or spleen enlargement lasting 3 months or more, persistent elevated liver enzymes (ALT or AST ≥ 1.5 times upper limit of normal) after excluding common causes, or abnormal cholesterol levels including high total cholesterol, high LDL-C, and/or low HDL-C
  • Presence of at least two minor criteria such as chronic diarrhea, abdominal pain or bloating, loss of appetite, nausea or vomiting, heartburn, weight loss or slowed growth, fatigue, recurrent mouth ulcers, spleen enlargement if not counted as major, anemia or low platelets, liver fat or fibrosis by imaging, poor response to lipid-lowering therapy, or family history of FH-like dyslipidemia without typical genetic markers
  • Signed informed consent from parent(s)/legal guardian(s) and the child, if applicable
Not Eligible

You will not qualify if you...

  • Confirmed alternative cause fully explaining liver disease or dyslipidemia, such as hepatitis A, B, or C, or autoimmune hepatitis, without suspicion of LAL-D
  • Diagnosis of Wolman disease
  • Long-term use of systemic corticosteroids defined as continuous oral or parenteral use for 14 days or more in the last 6 months

AI-Screening

AI-Powered Screening

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Trial Site Locations

Total: 2 locations

1

Research site

Nizhny Novgorod, Russia

Actively Recruiting

2

Research Site

Saint Petersburg, Russia

Actively Recruiting

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Research Team

A

AstraZeneca Clinical Study Information Center

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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