Lysosomal Acid Lipase DeficiencyHELIOSNCT07455864
Lysosomal Acid Lipase Deficiency in Risk Groups
An observational study of Lysosomal Acid Lipase Deficiency, run by AstraZeneca at 2 sites in Russia.
Trial 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) Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Lysosomal Acid Lipase Deficiency
- How many people
- 25 participants
- Where
- 2 sitesRussia
- Study dates
- 25 Feb 2026to 4 Jun 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Show all 21Show fewer
- 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 settings), despite therapy [12].
- Family history of FH-like dyslipidemia without typical FH genetic markers (if available).
- Provision of signed and dated written informed consent by parent(s)/legal guardian(s) (and the child, where applicable).
Who cannot join
- 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;
- Long-term use of systemic corticosteroids which is defined as oral or parenteral continuous administration during ≥14 days in the last 6 months prior to the inclusion.
Trial locations and contacts
2 sites in 1 country.
About this study
Official title: 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)
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
- Medical subject headings
- Wolman Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: Day 60 (Visit 2)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Mar 2026
- Study start25 Feb 2026
- Primary completion4 Jun 2026
- Study completion4 Jun 2026
Why it stopped: This decision is based on a reassessment of the current need for this study, impracticality of opening study sites in outpatient clinics due to administrative and legal constraints.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lysosomal Acid Lipase DeficiencyStudies of the same condition, open and under way.
- More trials run by AstraZenecaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- AstraZeneca
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07455864
- Sponsor's protocol ID
- D7720R00001
- Acronym
- HELIOS
- Status last verified
- Jul 2026
- First submitted
- 3 Mar 2026
- Last updated
- 8 Jul 2026
- Results posted
- No
- Individual data sharing
- Yes: Qualified researchers can request access to anonymized individual patient-level data from AstraZeneca group of companies sponsored clinical trials via the request portal Vivli.org. All requests will be evaluated as per the AZ disclosure commitment: https://astrazenecagrouptrials.pharmacm.com/ST/Submission/Disclosure. Yes, indicates that AZ are accepting requests for IPD, but this does not mean all requests will be shared.
Study at a glance
From the registry record, last updated by the sponsor on 8 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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)
- ClinicalTrials.gov ID
- NCT07455864
- Acronym / sponsor ID
- HELIOS / D7720R00001
- Conditions
- Lysosomal Acid Lipase Deficiency
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: This decision is based on a reassessment of the current need for this study, impracticality of opening study sites in outpatient clinics due to administrative and legal constraints.
- Enrolment
- 25 participants (actual)
- Lead sponsor
- AstraZenecaIndustry (pharma, biotech, devices)
- Study start
- 25 Feb 2026 (actual)
- Primary completion
- 4 Jun 2026 (actual)
- Study completion
- 4 Jun 2026 (actual)
- First posted
- 6 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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)
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (21 listed)
- 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);
- 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.
Key exclusion criteria (3 listed)
- 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;
- Long-term use of systemic corticosteroids which is defined as oral or parenteral continuous administration during ≥14 days in the last 6 months prior to the inclusion.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Time frame: Day 60 (Visit 2)
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)
Results and safety
The study was stopped early (reason given: This decision is based on a reassessment of the current need for this study, impracticality of opening study sites in outpatient clinics due to administrative and legal constraints.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jul 2026.
- Individual participant dataSharing planned: Yes. Qualified researchers can request access to anonymized individual patient-level data from AstraZeneca group of companies sponsored clinical trials via the request portal Vivli.org. All requests will be evaluated as per the AZ disclosure commitment: https://astrazenecagrouptrials.pharmacm.com/ST/Submission/Disclosure. Yes, indicates that AZ are accepting requests for IPD, but this does not mean all requests will be shared.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lysosomal Acid Lipase Deficiency, run by AstraZeneca at 2 sites in Russia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 21 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 8 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Russia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: This decision is based on a reassessment of the current need for this study, impracticality of opening study sites in outpatient clinics due to administrative and legal constraints.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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. (time frame: Day 60 (Visit 2)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jul 2026.