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ALX-LALD-501: Lysosomal Acid Lipase (LAL) Deficiency Registry

Sponsor
Alexion Pharmaceuticals (Industry)
Overall Status
Recruiting
CT.gov ID
NCT01633489
Collaborator
(none)
1,000
Enrollment
69
Locations
197.9
Anticipated Duration (Months)
14.5
Patients Per Site
0.1
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    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.

    Study Design

    Study Type:
    Observational [Patient Registry]
    Anticipated Enrollment :
    1000 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency
    Actual Study Start Date :
    Dec 31, 2012
    Anticipated Primary Completion Date :
    Jun 30, 2029
    Anticipated Study Completion Date :
    Jun 30, 2029

    Arms and Interventions

    Arm Intervention/Treatment
    LAL Deficiency patients

    Patients are those with a diagnosis of LAL Deficiency (living and deceased), irrespective of treatment status or treatment choice.

    Outcome Measures

    Primary Outcome Measures

    1. Understanding of the variability, progression, identification and natural history of LAL Deficiency. [Ongoing]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No

    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.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Phoenix Arizona United States
    2 Los Angeles California United States
    3 Stanford California United States 94305
    4 Orlando Florida United States
    5 Atlanta Georgia United States
    6 Chicago Illinois United States 60611
    7 Boston Massachusetts United States 02115
    8 Detroit Michigan United States 48236
    9 Minneapolis Minnesota United States 55111
    10 Hackensack New Jersey United States
    11 Bronx New York United States 10467
    12 New York New York United States 11030
    13 Philadelphia Pennsylvania United States
    14 Providence Rhode Island United States 02903
    15 Dallas Texas United States
    16 Houston Texas United States 77030
    17 Fairfax Virginia United States 22030
    18 Tacoma Washington United States
    19 New Lambton Heights Australia
    20 Ghent Belgium
    21 Woluwe-Saint-Lambert Belgium
    22 Campinas Brazil
    23 Ribeirão Preto Brazil
    24 São Paulo Brazil
    25 London Ontario Canada
    26 Edmonton Canada
    27 Halifax Canada
    28 Zagreb Croatia
    29 Olomouc Czechia
    30 Prague Czechia
    31 Copenhagen Denmark
    32 Bron France
    33 Clermont-Ferrand France
    34 La Tronche France
    35 Lyon France
    36 Nancy France
    37 Nantes France
    38 Nice France
    39 Paris France
    40 Berlin Germany
    41 Essen Germany
    42 Hochheim Germany
    43 Munich Germany
    44 Athens Greece
    45 Dublin Ireland
    46 Jerusalem Israel
    47 Petah Tikva Israel
    48 Genoa Italy
    49 Genova Italy
    50 Milano Italy
    51 Turin Italy
    52 Aguascalientes Mexico
    53 Mexico City Mexico
    54 Amsterdam Netherlands
    55 Warsaw Poland
    56 Guimarães Portugal
    57 Lisbon Portugal
    58 Riyadh Saudi Arabia
    59 Ljubljana Slovenia
    60 Albacete Spain
    61 Madrid Spain
    62 Oviedo Spain
    63 Valladolid Spain
    64 Zaragoza Spain
    65 Birmingham United Kingdom
    66 Cambridge United Kingdom
    67 London United Kingdom
    68 Manchester United Kingdom
    69 Salford United Kingdom

    Sponsors and Collaborators

    • Alexion Pharmaceuticals

    Investigators

    • Study Director: Alexion Pharmaceuticals, Sponsor GmbH

    Study Documents (Full-Text)

    None provided.

    More Information

    Additional Information:

    Publications

    None provided.
    Responsible Party:
    Alexion Pharmaceuticals
    ClinicalTrials.gov Identifier:
    NCT01633489
    Other Study ID Numbers:
    • ALX-LALD-501
    First Posted:
    Jul 4, 2012
    Last Update Posted:
    Jul 29, 2022
    Last Verified:
    Jul 1, 2022
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Additional relevant MeSH terms:
    Wolman Disease
    Cholesterol Ester Storage Disease

    Study Results

    No Results Posted as of Jul 29, 2022