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

This study is ongoing, but not recruiting participants.
Sponsor:
Information provided by (Responsible Party):
Synageva BioPharma Corp.
ClinicalTrials.gov Identifier:
NCT01528917
First received: February 1, 2012
Last updated: April 30, 2013
Last verified: April 2013
  Purpose

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).


Condition
Cholesterol Ester Storage Disease(CESD)
Lysosomal Acid Lipase Deficiency

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype

Resource links provided by NLM:


Further study details as provided by Synageva BioPharma Corp.:

Primary Outcome Measures:
  • Clinical History Summary [ Time Frame: Expected average of 15 years ] [ Designated as safety issue: No ]
    Characterize patient demographic data and clinical course of disease using descriptive statistics.


Estimated Enrollment: 60
Study Start Date: June 2011
Estimated Study Completion Date: May 2013
Primary Completion Date: January 2013 (Final data collection date for primary outcome measure)
Detailed Description:

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.

  Eligibility

Ages Eligible for Study:   5 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients diagnosed with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD).

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01528917

Locations
United States, California
Stanford University
Stanford, California, United States, 94305
United States, Illinois
Children's Memorial Hospital
Chicago, Illinois, United States, 60614
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, New York
Morgan Stanley Children's Hospital of New York-Presbyterian
New York, New York, United States, 10032
United States, Pennsylvania
Children's Hosptial of Pitttsburgh
Pittsburgh, Pennsylvania, United States, 15224
United States, Washington
Seattle Children's
Seattle, Washington, United States, 98105
Canada
Hospital for Sick Kids
Toronto, Canada
Czech Republic
1st Faculty of Medicine Charles University
Prague, Czech Republic
France
Hôpital Necker-Enfants Malades
Paris, France
Italy
Gaslini Institute
Genoa, Italy
Regina Margherita Hospital
Turin, Italy
Poland
Children's Memorial Health Institute
Warsaw, Poland
Switzerland
Hopitaux Universitares De Geneve
Geneve, Switzerland
United Kingdom
Birmingham Children's Hospital
Birmingham, United Kingdom
Addenbrooke's Hospital
Cambridge, United Kingdom
Salford Royal
Salford, United Kingdom
Sponsors and Collaborators
Synageva BioPharma Corp.
  More Information

Additional Information:
No publications provided

Responsible Party: Synageva BioPharma Corp.
ClinicalTrials.gov Identifier: NCT01528917     History of Changes
Other Study ID Numbers: LAL-2-NH01
Study First Received: February 1, 2012
Last Updated: April 30, 2013
Health Authority: United States: Institutional Review Board
United Kingdom: Medicines and Healthcare Products Regulatory Agency
Canada: Health Canada
France: Conseil National de l'Ordre des Médecins
Czech Republic: State Institute for Drug Control
Italy: National Bioethics Committee
Poland: National Institute of Medicines

Keywords provided by Synageva BioPharma Corp.:
Lysosomal Storage Disease
Late Onset Lysosomal Acid Lipase (LAL) Deficiency
Acid cholesteryl ester hydrolase deficiency, type 2
Acid lipase disease
Cholesterol ester hydrolase deficiency
LAL Deficiency
LIPA Deficiency
Wolman disease

Additional relevant MeSH terms:
Cholesterol Ester Storage Disease
Wolman Disease
Metabolic Diseases
Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Lipid Metabolism Disorders
Infant, Newborn, Diseases

ClinicalTrials.gov processed this record on July 20, 2014