Lysosomal Acid Lipase (LAL) Deficiency Registry (ALX-LALD-501)
Lysosomal Acid Lipase Deficiency
Cholesterol Ester Storage Disease
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Acid Lipase Deficiency
|Study Type:||Observational [Patient Registry]|
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Target Follow-Up Duration:||15 Years|
|Official Title:||An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency|
- Understanding of the variability, progression, identification and natural history of LAL Deficiency. [ Time Frame: Ongoing ] [ Designated as safety issue: No ]
|Study Start Date:||December 2012|
|Estimated Study Completion Date:||June 2029|
|Estimated Primary Completion Date:||June 2029 (Final data collection date for primary outcome measure)|
LAL Deficiency patients
Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice.
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01633489
|Contact: Alexion Pharmaceuticals, Inc.||email@example.com|
|Contact: Genevieve Doster||GDoster@clintec.com|
|United States, Georgia|
|Decatur, Georgia, United States, 30033|
|United States, Illinois|
|Chicago, Illinois, United States, 60611|
|United States, Texas|
|Houston, Texas, United States, 77030|
|United States, Virginia|
|Fairfax, Virginia, United States, 22030|
|Hopital Femme Mere Enfant de Lyon||Recruiting|
|Bron, France, 69500|
|Mainz, Germany, 55131|
|Genova, Italy, 16148|
|Milano, Italy, 20122|
|Torino, Italy, 10126|
|Study Director:||Alexion Pharmaceuticals||Sponsor GmbH|