Lysosomal Acid Lipase Deficiency in Risk Groups
ConditionLysosomal Acid Lipase Deficiency
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorAstraZeneca
About this trial
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)
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
None
Disqualifiers
None
Trial 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.
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
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)
Time frame
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Source ClinicalTrials.gov