An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype

NCT ID: NCT01528917

Last Updated: 2016-07-20

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

49 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-06-30

Study Completion Date

2013-05-31

Brief Summary

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This is a Natural History study to characterize key aspects of the clinical course of late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD).

Detailed Description

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The objective of this study is to characterize key aspects of the clinical presentation, disease phenotype and progression of patients with late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD) including, but not limited to, age of presentation, onset of hepatomegaly, progression over time of liver function, and stability of lipid abnormalities.

Conditions

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Cholesterol Ester Storage Disease(CESD) Lysosomal Acid Lipase Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Patients with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD) who are 5 years of age or older and have required data points in their medical record

Exclusion Criteria

* Required data points for inclusion are not available
Minimum Eligible Age

5 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Alexion Pharmaceuticals, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Stanford University

Stanford, California, United States

Site Status

Children's Memorial Hospital

Chicago, Illinois, United States

Site Status

University of Minnesota

Minneapolis, Minnesota, United States

Site Status

Morgan Stanley Children's Hospital of New York-Presbyterian

New York, New York, United States

Site Status

Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status

Seattle Children's

Seattle, Washington, United States

Site Status

Hospital for Sick Kids

Toronto, , Canada

Site Status

1st Faculty of Medicine Charles University

Prague, , Czechia

Site Status

Hôpital Necker-Enfants Malades

Paris, , France

Site Status

Gaslini Institute

Genoa, , Italy

Site Status

Regina Margherita Hospital

Turin, , Italy

Site Status

Children's Memorial Health Institute

Warsaw, , Poland

Site Status

Hopitaux Universitares De Geneve

Geneva, , Switzerland

Site Status

Birmingham Children's Hospital

Birmingham, , United Kingdom

Site Status

Addenbrooke's Hospital

Cambridge, , United Kingdom

Site Status

Salford Royal

Salford, , United Kingdom

Site Status

Countries

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United States Canada Czechia France Italy Poland Switzerland United Kingdom

References

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Burton BK, Silliman N, Marulkar S. Progression of liver disease in children and adults with lysosomal acid lipase deficiency. Curr Med Res Opin. 2017 Jul;33(7):1211-1214. doi: 10.1080/03007995.2017.1309371. Epub 2017 Apr 3.

Reference Type DERIVED
PMID: 28320214 (View on PubMed)

Burton BK, Deegan PB, Enns GM, Guardamagna O, Horslen S, Hovingh GK, Lobritto SJ, Malinova V, McLin VA, Raiman J, Di Rocco M, Santra S, Sharma R, Sykut-Cegielska J, Whitley CB, Eckert S, Valayannopoulos V, Quinn AG. Clinical Features of Lysosomal Acid Lipase Deficiency. J Pediatr Gastroenterol Nutr. 2015 Dec;61(6):619-25. doi: 10.1097/MPG.0000000000000935.

Reference Type DERIVED
PMID: 26252914 (View on PubMed)

Related Links

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http://alexion.com/

Alexion Pharmaceuticals

Other Identifiers

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LAL-2-NH01

Identifier Type: -

Identifier Source: org_study_id

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