Clinical trial NCT01528917: An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
Official title: An Observational Study of the Clinical Characteristics and Disease Progression of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Cholesterol Ester Storage Disease(CESD)
Lysosomal Acid Lipase Deficiency
Keywords: 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
Lead sponsor: Alexion Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2012-02-08
Enrollment: 49
Sex: ALL
Minimum age (years): 5
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients diagnosed with late onset LAL Deficiency/ Cholesteryl Ester Storage Disease (CESD).

Brief summary: 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: 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 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

Primary outcomes:
measure: Clinical History Summary
timeFrame: Expected average of 15 years
Secondary outcomes:
Other outcomes:
Locations:
city: Stanford
country: United States
facility: Stanford University
state: California
city: Chicago
country: United States
facility: Children's Memorial Hospital
state: Illinois
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
city: New York
country: United States
facility: Morgan Stanley Children's Hospital of New York-Presbyterian
state: New York
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh
state: Pennsylvania
city: Seattle
country: United States
facility: Seattle Children's
state: Washington
city: Toronto
country: Canada
facility: Hospital for Sick Kids
city: Prague
country: Czech Republic
facility: 1st Faculty of Medicine Charles University
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
city: Genoa
country: Italy
facility: Gaslini Institute
city: Turin
country: Italy
facility: Regina Margherita Hospital
city: Warsaw
country: Poland
facility: Children's Memorial Health Institute
city: Geneve
country: Switzerland
facility: Hopitaux Universitares De Geneve
city: Birmingham
country: United Kingdom
facility: Birmingham Children's Hospital
city: Cambridge
country: United Kingdom
facility: Addenbrooke's Hospital
city: Salford
country: United Kingdom
facility: Salford Royal
Study officials:
References:
citation: 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.
citation: 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.