Clinical trial NCT01633489: Lysosomal Acid Lipase (LAL) Deficiency Registry
Official title: An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Lysosomal Acid Lipase Deficiency
Cholesterol Ester Storage Disease
Wolman Disease
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Acid Lipase Deficiency
LIPA Deficiency
LAL-Deficiency
Lead sponsor: Alexion Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2012-07-04
Enrollment: 300
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All patients with a diagnosis of LAL Deficiency.

Brief 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.

Detailed 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Understanding of the variability, progression, identification and natural history of LAL Deficiency.
timeFrame: Ongoing
Secondary outcomes:
Other outcomes:
Locations:
city: Phoenix
country: United States
facility: Clinical Trial Site
state: Arizona
city: Stanford
country: United States
facility: Clinical Trial Site
state: California
city: Miramar
country: United States
facility: Clinical Trial Site
state: Florida
city: Orlando
country: United States
facility: Clinical Trial Site
state: Florida
city: Atlanta
country: United States
facility: Clinical Trial Site
state: Georgia
city: Chicago
country: United States
facility: Clinical Trial Site
state: Illinois
city: Boston
country: United States
facility: Clinical Trial Site
state: Massachusetts
city: Detroit
country: United States
facility: Clinical Trial Site
state: Michigan
city: Minneapolis
country: United States
facility: Clinical Trial Site
state: Minnesota
city: Jackson
country: United States
facility: Clinical Trial Site
state: Mississippi
city: Hackensack, NJ, 7601
country: United States
facility: Clinical Trial Site
state: New Jersey
city: Bronx
country: United States
facility: Clinical Trial Site
state: New York
city: New York
country: United States
facility: Clinical Trial Site
state: New York
city: Philadelphia
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Philadelphia
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Philadelphia
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Houston
country: United States
facility: Clinical Trial Site
state: Texas
city: Houston
country: United States
facility: Clinical Trial Site
state: Texas
city: Snyder
country: United States
facility: Clinical Trial Site
state: Texas
city: Tacoma
country: United States
facility: Clinical Trial Site
state: Washington
city: New Lambton Heights
country: Australia
facility: Clinical Trial Site
state: New South Wales
city: Ghent
country: Belgium
facility: Clinical Trial Site
state: East Flanders
city: Campinas
country: Brazil
facility: Clinical Trial Site
state: São Paulo
city: São Paulo
country: Brazil
facility: Clinical Trial Site
city: São Paulo
country: Brazil
facility: Clinical Trial Site
city: Sofia
country: Bulgaria
facility: Clinical Trial Site
state: Sofia City
city: Edmonton
country: Canada
facility: Clinical Trial Site
state: Alberta
city: Halifax
country: Canada
facility: Clinical Trial Site
state: Nova Scotia
city: London
country: Canada
facility: Clinical Trial Site
state: Ontario
city: Quebec
country: Canada
facility: Clinical Trial Site
city: Zagreb
country: Croatia
facility: Clinical Trial Site
city: Prague
country: Czechia
facility: Clinical Trial Site
state: Central Bohemia
city: Olomouc
country: Czechia
facility: Clinical Trial Site
city: Bron
country: France
facility: Clinical Trial Site
state: Auvergne-Rhône-Alpes
city: Clermont-Ferrand
country: France
facility: Clinical Trial Site
state: Auvergne-Rhône-Alpes
city: Clermont-Ferrand
country: France
facility: Clinical Trial Site
state: Auvergne-Rhône-Alpes
city: Grenoble
country: France
facility: Clinical Trial Site
state: Auvergne-Rhône-Alpes
city: Caen
country: France
facility: Clinical Trial Site
state: Normandy
city: La Rochelle
country: France
facility: Clinical Trial Site
state: Nouvelle-Aquitaine
city: Niort
country: France
facility: Clinical Trial Site
state: Nouvelle-Aquitaine
city: Nancy
country: France
facility: Clinical Trial Site
state: Vandœuvre-lès-Nancy
city: Dijon
country: France
facility: Clinical Trial Site
city: Nantes
country: France
facility: Clinical Trial Site
city: Paris
country: France
facility: Clinical Trial Site
state: Île-de-France
city: Munich
country: Germany
facility: Clinical Trial Site
state: Bavaria
city: Essen
country: Germany
facility: Clinical Trial Site
state: North Rhine-Westphalia
city: Mainz
country: Germany
facility: Clinical Trial Site
state: Rhineland-Palatinate
city: Berlin
country: Germany
facility: Clinical Trial Site
city: Athens
country: Greece
facility: Clinical Trial Site
state: Attica
city: Ioannina
country: Greece
facility: Clinical Trial Site
state: Epirus
city: Thessaloniki
country: Greece
facility: Clinical Trial Site
state: Macedonia
city: Dublin
country: Ireland
facility: Clinical Trial Site
state: Leinster
city: Petah Tikva
country: Israel
facility: Clinical Trial Site
state: Central
city: Haifa
country: Israel
facility: Clinical Trial Site
city: Jerusalem
country: Israel
facility: Clinical Trial Site
city: Jerusalem
country: Israel
facility: Clinical Trial Site
city: Bari
country: Italy
facility: Clinical Trial Site
state: Apulia
city: Napoli
country: Italy
facility: Clinical Trial Site
state: Campania
city: Udine
country: Italy
facility: Clinical Trial Site
state: Friuli-Venezia Giulia
city: Genova
country: Italy
facility: Clinical Trial Site
state: Liguria
city: Bergamo
country: Italy
facility: Clinical Trial Site
state: Lombardy
city: Milano
country: Italy
facility: Clinical Trial Site
state: Lombardy
city: Turin
country: Italy
facility: Clinical Trial Site
state: Piedmont
city: Florence
country: Italy
facility: Clinical Trial Site
state: Tuscany
city: Padova
country: Italy
facility: Clinical Trial Site
state: Veneto
city: Zapopan
country: Mexico
facility: Clinical Trial Site
state: Jalisco
city: Aguascalientes
country: Mexico
facility: Clinical Trial Site
city: Mexico City
country: Mexico
facility: Clinical Trial Site
city: Amsterdam
country: Netherlands
facility: Clinical Trial Site
state: North Holland
city: Amsterdam
country: Netherlands
facility: Clinical Trial Site
state: North Holland
city: Guimarães
country: Portugal
facility: Clinical Trial Site
state: Braga
city: Lisbon
country: Portugal
facility: Clinical Trial Site
city: Petersburg
country: Russian Federation
facility: Clinical Trial Site
state: Leningrad Oblast
city: Moscow
country: Russian Federation
facility: Clinical Trial Site
state: Moscow Oblast
city: Moscow
country: Russian Federation
facility: Clinical Trial Site
state: Moscow Oblast
city: Moscow
country: Russian Federation
facility: Clinical Trial Site
state: Moscow Oblast
city: Moscow
country: Russian Federation
facility: Clinical Trial Site
state: Moscow Oblast
city: Nizhny Novgorod
country: Russian Federation
facility: Clinical Trial Site
state: Nizhny Novgorod Oblast
city: Riyadh
country: Saudi Arabia
facility: Clinical Trial Site
city: Riyadh
country: Saudi Arabia
facility: Clinical Trial Site
city: Ljubljana
country: Slovenia
facility: Clinical Trial Site
city: Santiago de Compostela
country: Spain
facility: Clinical Trial Site
state: A Coruña
city: Oviedo
country: Spain
facility: Clinical Trial Site
state: Asturias
city: Barakaldo
country: Spain
facility: Clinical Trial Site
state: Biscay
city: Logroño
country: Spain
facility: Clinical Trial Site
state: La Rioja
city: Burela
country: Spain
facility: Clinical Trial Site
state: Lugo
city: Malaga
country: Spain
facility: Clinical Trial Site
state: Málaga
city: Reus
country: Spain
facility: Clinical Trial Site
state: Tarragona
city: A Coruña
country: Spain
facility: Clinical Trial Site
city: Albacete
country: Spain
facility: Clinical Trial Site
city: Alicante
country: Spain
facility: Clinical Trial Site
city: Barcelona
country: Spain
facility: Clinical Trial Site
city: Barcelona
country: Spain
facility: Clinical Trial Site
city: Las Palmas
country: Spain
facility: Clinical Trial Site
city: Madrid
country: Spain
facility: Clinical Trial Site
city: Madrid
country: Spain
facility: Clinical Trial Site
city: Murcia
country: Spain
facility: Clinical Trial Site
city: Valladolid
country: Spain
facility: Clinical Trial Site
city: Zaragoza
country: Spain
facility: Clinical Trial Site
city: Cambridge
country: United Kingdom
facility: Clinical Trial Site
state: Cambridgeshire
city: London
country: United Kingdom
facility: Clinical Trial Site
state: Greater London
city: Manchester
country: United Kingdom
facility: Clinical Trial Site
state: Greater Manchester
city: Salford
country: United Kingdom
facility: Clinical Trial Site
state: Greater Manchester
city: Birmingham
country: United Kingdom
facility: Clinical Trial Site
state: West Midlands
Study officials:
affiliation: Sponsor GmbH
name: Alexion Pharmaceuticals
role: STUDY_DIRECTOR
References:
citation: Soll D, Spira D, Hollstein T, Haberbosch L, Demuth I, Steinhagen-Thiessen E, Bobbert T, Spranger J, Kassner U. Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report. Mol Genet Metab Rep. 2019 Jun 18;20:100479. doi: 10.1016/j.ymgmr.2019.100479. eCollection 2019 Sep.