A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase deficiency - LAL-CL06

Alexion Pharmaceuticals Inc0 个研究点目标入组 1 人开始时间: 待定最近更新: 2024年4月23日

试验速览

阶段: 2 期
状态: 已完成
发起方: Alexion Pharmaceuticals Inc
入组人数: 1

研究概览入排标准研究者记录与标识符相似试验

研究概览

简要总结

暂无简介。

研究设计

研究类型: Interventional

入排标准

年龄范围: 2 至 99（—）

入选标准

•1. Subject will be > 8 months of age at the time of dosing.
•2. Subject or subject*s parent or legal guardian (if applicable) consents to participation in the study. If the subject is of minor age, he/she is willing to provide assent where required per local regulations, and if deemed able to do so. 3. Confirmation of LAL Deficiency diagnosis as determined by the
•central lab; a subject 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 (Note: in a highly suggestive case of LAL Deficiency where only 1 mutation is identified, subjects
•may be included based on a fibroblast enzyme activity assay); 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).
•4. Subjects > 8 months but < 4 years of age at Screening will have at least 1 of the following documented clinical manifestations of LAL Deficiency:
•a. Dyslipidemia (defined as Screening LDL-C > 130 mg/dL; TG > 200 mg/dL);
•b. Elevated transaminases (ALT >=1.5x ULN (based on the age-
•and gender-specific normal ranges of the central laboratory performing the assay)
•Impaired growth as defined as: i. WFA or SFA less than the age- and gender-
•appropriate 5th percentile on a standard WHO (subjects <= 24 months of age) or CDC (subjects > 24
•months and < 4 years of age) 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
•(99th, 97th, 95th, 90th, 75th, 50th, 25th, 10th, 5th, 3rd, and 1st) lines on a standard WHO (subjects <=24 months of age) or CDC (subjects > 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 LAL Deficiency 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).
•5. Subjects >= 4 years of age at Screening will have at least 1 of the following documented clinical manifestations of LAL Deficiency:
•a. Evidence of advanced liver disease (e.g., cirrhosis confirmed
•by imaging or biopsy) 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. Disease recurrence in subjects with past liver or hemato

排除标准

•1. Subject meets eligibility criteria for another interventional study of sebelipase alfa in LAL Deficiency that is open for enrollment in the region where the subject will receive treatment. 2. Subject has known causes of active liver disease other than LAL Deficiency which have not been adequately treated (e.g., chronic viral hepatitis, autoimmune hepatitis, alcoholic liver disease).
•3. Subject is unable or unwilling to comply with study procedures.
•4. Subject received a hematopoietic stem cell or liver transplant < 2 years from the time of dosing.
•5. Females who are nursing or pregnant.
•6. Subject with co-morbidities other than complications due to LAL Deficiency 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

发起方

Alexion Pharmaceuticals Inc

相似试验

进行中（未招募）

1 期

Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD).ysosomal Acid Lipase Deficiency (LALD)MedDRA version: 19.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850

EUCTR2011-004287-30-DEAlexion Pharmaceuitcals Inc30

进行中（未招募）

1 期

Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD).ysosomal Acid Lipase Deficiency (LALD)MedDRA version: 16.1Level: HLTClassification code 10024579Term: Lysosomal storage disordersSystem Organ Class: 100000004850

EUCTR2011-004287-30-ESSynageva BioPharma Corp.20

进行中（未招募）

1 期

Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD).

EUCTR2011-004287-30-ITSynageva BioPharma Corp.20

进行中（未招募）

1 期

EUCTR2011-004287-30-DKAlexion Pharmaceuticals inc20

进行中（未招募）

1 期

Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD).ysosomal Acid Lipase Deficiency (LALD)MedDRA version: 19.0 Level: HLT Classification code 10024579 Term: Lysosomal storage disorders System Organ Class: 100000004850

EUCTR2011-004287-30-HRAlexion Pharmaceuitcals Inc31