Brief Summary

This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.

Trial Health

On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment

participants targeted

Target at P25-P50 for all trials

Timeline

Completed

Started Nov 2010

Typical duration for all trials

Geographic Reach

5 countries

14 active sites

Status

completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

2.3 years study duration

Study Start

First participant enrolled

November 1, 2010

Completed

5 months until next milestone

First Submitted

Initial submission to the registry

April 13, 2011

Completed

1 month until next milestone

First Posted

Study publicly available on registry

May 23, 2011

Completed

1.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2013

Completed

2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2013

Completed

Last Updated

June 27, 2016

Status Verified

June 1, 2016

Enrollment Period

2.2 years

First QC Date

April 13, 2011

Last Update Submit

June 23, 2016

Conditions

Lysosomal Acid Lipase Deficiency Wolman Disease

Keywords

LAL DeficiencyLIPAWolman diseaseWolman PhenotypeEarly Onset LAL DeficiencyAcid Lipase Deficiency

Outcome Measures

Primary Outcomes (1)

Time to Death
The time to death will be analyzed using Kaplan-Meier curves. Estimates (with exact 95% confidence interval \[CI\]) of the median and the lower and upper quartiles of time to death will be derived.
Up to two years.

Eligibility Criteria

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later.

You may qualify if:

Deceased patients diagnosed with LAL deficiency/Wolman phenotype in 1985 or later provided they have required data points in their medical records.

You may not qualify if:

Living LAL deficiency/Wolman phenotype patients will be excluded

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Alexion Pharmaceuticals, Inc.lead

Study Sites (14)

Cedars-Siani Medical Center

Los Angeles, California, 90095-1752, United States

Location

Stanford University

Palo Alto, California, 94305, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Columbia University

New York, New York, 10027, United States

Location

Ney York Presbyterian Hosptial

New York, New York, 10032, United States

Location

North Shore Long Island Jewish Medical Center

New York, New York, 11040, United States

Location

Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

Location

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

Location

Hospital Necker- Enfants Malades

Paris, 75015, France

Location

Instituto Giannina Gaslini- Ospedale Pediatrico IRCCS

Genova, Italy

Location

University of Turin

Turin, 10124, Italy

Location

Birmingham Children's Hospital NHS Foundation Trust

Birmingham, B4 6NH, United Kingdom

Location

Kings College London

London, WC2R 2LS, United Kingdom

Location

Manchester Children's Hospital

Manchester, M13 9Wl, United Kingdom

Location

MeSH Terms

Conditions

Wolman Disease

Condition Hierarchy (Ancestors)

Cholesterol Ester Storage DiseaseLipidosesLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLysosomal Storage DiseasesInfant, Newborn, DiseasesLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type: observational
Observational Model: COHORT
Time Perspective: RETROSPECTIVE
Sponsor Type: INDUSTRY
Responsible Party: SPONSOR

Study Record Dates

First Submitted

April 13, 2011

First Posted

May 23, 2011

Study Start

November 1, 2010

Primary Completion

January 1, 2013

Study Completion

March 1, 2013

Last Updated

June 27, 2016

Record last verified: 2016-06

Data Sharing

IPD Sharing: Will not share

Locations

FR(1)GB(3)IT(2)US(7)CA(1)

A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

Brief Summary

Trial Health

Trial Health Score

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Eligibility Criteria

You may qualify if:

You may not qualify if:

Sponsors & Collaborators

Study Sites (14)

Related Links

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Design

Study Record Dates

Data Sharing

Locations

Brief Summary

Trial Health

Trial Health Score

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Eligibility Criteria

You may qualify if:

You may not qualify if:

Sponsors & Collaborators

Study Sites (14)

Related Links

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Design

Study Record Dates

Data Sharing

Locations