EUCTR2011-004287-30-IT进行中（未招募）1 期
A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency
试验速览
- 阶段
- 1 期
- 状态
- 进行中（未招募）
- 入组人数
- 20
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Interventional clinical trial of medicinal product
入排标准
- 性别
- All
入选标准
- •1. Patient will be > 8 months of age at the time of dosing.
- •2. Confirmation of LALD diagnosis as determined by the central lab; a patient who received a liver or hematopoietic stem cell transplant who does not show evidence of LAL enzyme deficiency by DBS due to the effects of transplantation must have either:
- •a. Molecular genetic testing which confirms mutations in both
- •alleles of the LIPA gene; OR
- •b. Appropriately documented (based on consultation with the Sponsor) historical result of an enzyme test prior to hematopoietic or liver transplantation (performed in dry blood spots, leukocytes or fibroblasts).
- •3. Patients > 8 months but < 4 years of age at Screening will have at least 1 of the following documented clinical manifestations of LALD:
- •a. Dyslipidemia (defined as Screening LDL-C > 130 mg/dL; TG
- •> 200 mg/dL);
- •b. Elevated transaminases (ALT =1.5x ULN (based on the ageand
- •gender-specific normal ranges of the central laboratory performing the assay);
- •c. Impaired growth as defined as:
- •i. WFA or SFA less than the age- and gender appropriate 5th percentile on a standard WHO or CDC WFA or SFA chart for at least 3 months prior to study entry; OR
- •ii. Poor weight gain as evidenced by calculated weight
- •percentile decreasing across 2 major percentile lines on a standard WHO (patients < 24 months of age) or CDC (patients = 24 months and <4 years of age) WFA chart over a period of 6 months prior to study entry;
- •d. Suspected malabsorption with:
- •i. Persistent unexplained gastrointestinal symptoms such as nausea, diarrhea, abdominal pain, and bloating; OR
- •ii. Unexplained anemia, or other abnormalities suggestive of malabsorption (e.g., osteomalacia, hypoalbuminaemia, prolonged bleeding time due to vitamin K deficiency); AND
- •iii. Documented small intestinal disease involvement on
- •a small bowel biopsy performed within 1 year of Screening
- •e. Other clinical manifestation of LALD in the opinion of the
- •investigator and in consultation with the Sponsor (e.g.,
- •abnormal cardiac or pulmonary functions, or presence of
- •lymphadenopathy by imaging or palpation).
- •4. Patients = 4 years of age at Screening will have at least 1 of the
- •following documented clinical manifestations of LALD:
- •a. Evidence of advanced liver disease (e.g., cirrhosis confirmed
- •by imaging or biopsy, and Child-Pugh C) at Screening accompanied by:
- •i. Clinically significant portal hypertension as defined by a hepatic venous pressure gradient (HVPG) greater than or equal to 10 mmHg; OR
- •ii. Documented esophageal varices (historical or by
- •esophagogastroduodenoscopy (EGD) at Screening (unless medically contraindicated due to high risk of endoscopy-related bleeding based on presence of esophageal varices on endoscopy carried out within 3 months of assessment).
- •b. Histologically confirmed disease recurrence in patients with
- •past liver or hematopoietic transplants (e.g., re-accumulation
- •of lipid containing Kupffer cells, recurrence of fibrosis);
- •c. Persistent dyslipidemia (defined as LDL-C >130mg/dL, triglycerides >200mg/dL, or HDL-C <40mg/dL in males, and
- •<50mg/dL in females) that has persisted despite 3 or more
- •months of treatment with one or more lipid-lowering
- •therapies such as statins, cholesterol absorption inhibitors
- •(ezetimibe), combination therapies (single-pill;
- •ezetimibe/simvastatin, niacin/simvastatin), fibrates
- •(fenofibrate, gemfibrozil, fenofibric acid), niacin or bile acid
- •sequestrants (cholestyramine, colestipol, colesevelam);
- •d. Suspected ma
排除标准
- •A patient who meets any of the following exclusion criteria will be ineligible for this study:
- •1. Patient meets eligibility criteria for another interventional study of sebelipase alfa in LALD that is open for enrollment in the region where the patient will receive treatment.
- •2. Patient has known causes of active liver disease other than LALD which have not been adequately treated (e.g., chronic viral hepatitis, autoimmune hepatitis, alcoholic liver disease).
- •3. Patient is unable or unwilling to comply with study procedures.
- •4. Patient received a hematopoietic stem cell or liver transplant <2 years from the time of dosing.
- •5. Females who are nursing or pregnant.
- •6. Patient with co-morbidities other than complications due to LALD which, in the opinion of the Investigator and in consultation with the Sponsor, are irreversible or associated with a high mortality risk within 6 months, or would interfere with study compliance or data interpretation (e.g. excessive alcohol consumption).
- •7. Exposure to any investigational product within 30 days of Screening for a small molecule and 60 days of Screening for a biologic.
- •8. Known hypersensitivity to eggs.
研究者
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