Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT01633489
Other study ID # ALX-LALD-501
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date December 31, 2012
Est. completion date June 30, 2029

Study information

Verified date July 2023
Source Alexion
Contact Alexion Pharmaceuticals, Inc.
Email clinicaltrials@alexion.com
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial Summary

This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency. Participation in the Registry by both physicians and patients is voluntary.


Description:

Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lysosomal storage disorder (LSD) that is caused by a marked decrease of lysosomal acid lipase (LAL), the enzyme that breaks down cholesteryl esters and triglycerides in the lysosomes. Lysosomal Acid Lipase Deficiency presenting in infants (historically called Wolman Disease) is a medical emergency with rapid disease progression over a period of weeks that is typically fatal within the first 6 months of life. More commonly, LAL Deficiency presents in children and adults and this presentation has been historically called Cholesteryl Ester Storage Disease (CESD). In general, data on the prevalence of LAL Deficiency are limited, and the overall prevalence of the disease in the population is unclear. For all presentations, LAL Deficiency is associated with significant morbidity and mortality. Deficient LAL enzyme activity results in the lysosomal accumulation of cholesteryl esters and triglycerides. In the liver, this accumulation leads to hepatomegaly, increased hepatic fat content, transaminase elevation signaling chronic liver injury, and progression to fibrosis, cirrhosis, and complications of end stage liver disease. In the spleen, LAL Deficiency results in splenomegaly, anemia, and thrombocytopenia. Lipid accumulation in the intestinal wall leads to malabsorption and growth failure. Dyslipidemia is common with elevated low density lipoprotein (LDL) and triglycerides and low high density lipoprotein (HDL), associated with increased liver fat content and transaminase elevations. In addition to liver disease, patients with LAL Deficiency experience increased risk for cardiovascular disease and accelerated atherosclerosis. The LAL Deficiency Registry is a global registry, established to help improve care for patients through improved understanding of the disease and long-term effectiveness of therapeutic interventions including sebelipase alfa. As with other registries, which are becoming increasingly valuable for collecting information in large, heterogeneous, 'real world' populations, the LAL Deficiency Registry aims to provide evidence to help support patient care and inform clinical practice. This Registry is also being conducted, in part, to fulfill post-marketing commitments and requirements agreed to by the Sponsor as a condition for sebelipase alfa approval in the EU and the USA.


Recruitment information / eligibility

Status Recruiting
Enrollment 1000
Est. completion date June 30, 2029
Est. primary completion date June 30, 2029
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Patients must have a confirmed diagnosis of LAL Deficiency. An Informed Consent and Authorization must be obtained prior to patient enrollment where required under applicable laws and regulations, or a waiver must be obtained by the Institutional Review Board/Independent Ethics Committee. Patients cannot be currently participating in an Alexion-sponsored clinical trial. Patients who have concluded participation in an Alexion-sponsored sebelipase alfa clinical trial are eligible to enroll in this Registry, and enrollment in the Registry will not exclude a patient from enrolling in a future clinical trial.

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
n/a

Sponsors (1)

Lead Sponsor Collaborator
Alexion

Countries where clinical trial is conducted

United States,  Australia,  Belgium,  Brazil,  Canada,  Croatia,  Czechia,  Denmark,  France,  Germany,  Greece,  Ireland,  Israel,  Italy,  Mexico,  Netherlands,  Poland,  Portugal,  Saudi Arabia,  Slovenia,  Spain,  United Kingdom, 

Outcome

Type Measure Description Time frame Safety issue
Primary Understanding of the variability, progression, identification and natural history of LAL Deficiency. Ongoing
See also
  Status Clinical Trial Phase
Recruiting NCT05687474 - Baby Detect : Genomic Newborn Screening
Recruiting NCT03984149 - Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects)
Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Recruiting NCT03564002 - Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity
Terminated NCT02926872 - Screening for Lysosomal Acid Lipase Deficiency N/A
Terminated NCT01473875 - Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Phase 2/Phase 3
Completed NCT01358370 - A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype N/A
Completed NCT01371825 - Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Phase 2/Phase 3
Enrolling by invitation NCT05368038 - ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Terminated NCT02193867 - Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Phase 2
Completed NCT02112994 - Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency Phase 2
Completed NCT01528917 - An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype N/A
Completed NCT01757184 - Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency Phase 3
Terminated NCT02345421 - A Study to Identify and Characterize LAL-D Patients in High-risk Populations N/A
Completed NCT01488097 - Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency Phase 2
Enrolling by invitation NCT01716728 - Identification of Undiagnosed Lysosomal Acid Lipase Deficiency N/A
Completed NCT01307098 - Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency Phase 1/Phase 2
No longer available NCT02376751 - An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency N/A