NCT07455864终止不适用
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)
适应症
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- AstraZeneca
- 入组人数
- 25
- 试验地点
- 2
- 主要终点
- 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.
研究概览
简要总结
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)
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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 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).
排除标准
- •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.
结局指标
主要结局
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.
时间窗: 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)
次要结局
未报告次要终点
研究者
研究点 (2)
Loading locations...
相似试验
招募中
不适用
Real-world Outcomes of Peripheral T-cell Lymphoma: A Multicenter Retrospective and Prospective Cohort StudyNCT07270861Fudan University3,000
尚未招募
不适用
Lung Cancer Screening Implementation Project in the Brazilian Public Health Care System (LUSIP)Lung CancerNCT07279948AstraZeneca477
进行中（未招募）
不适用
Prognostic Model of Elderly Hodgkin Lymphoma in ChinaHodgkin LymphomaNCT07374068Tianjin Medical University Cancer Institute and Hospital400
招募中
不适用
Observational Study That Will Evaluate Treatment Patterns in the Management of Hypertension in the Public Primary Care SystemHypertensionNCT07361276AstraZeneca15,000
尚未招募
不适用
LANDSCAPE: Demographics and Treatment Patterns of Patients With Immune-Mediated Inflammatory Skin Diseases in Italian Clinical PracticeAlopecia AreataHidradenitis SuppurativaAtopic DermatitisNCT07336641Fondazione ISIDE20,000