National Lysosomal Acid Lipase Deficiency Study

• Register: ClinicalTrials.gov
• Last refreshed on: 16 December 2017
• Main ID: NCT02372513
• Date of registration: 21/02/2015
• Prospective Registration: No
• Primary sponsor: Ankara University
• Public title: National Lysosomal Acid Lipase Deficiency Study LAL-D
• Scientific title: The Frequency of Cholesteryl Ester Storage Disease in Children With Unexplained Transaminase Elevation and Chronic Liver Disease
• Date of first enrolment: January 2015
• Target sample size: 810
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT02372513
• Study type: Observational
• Phase: N/A

Countries of recruitment

Turkey

Contacts

• Name: Zarife Kuloglu, M.D
• Affiliation: Ankara University School of Medicine

Key inclusion & exclusion criteria

Inclusion Criteria:

1. A male or female of 3 months to 18 years of age at the time of enrolment

2. Patients who have unexplained transaminase elevation (serum ALT levels > 1.5 times the
upper limit of normal) for more than 3 months

3. Patients who have unexplained hepatomegaly or hepatosplenomegaly

4. Patients who have obesity- unrelated hepatosteatosis

5. Patients who have biopsy-proven cryptogenic fibrosis and cirrhosis

6. Patients with liver transplantation for cryptogenic cirrhosis

Exclusion Criteria:

1. A male or female < 3 months or > 18 years old

2. Patients with obesity -related hepatosteatosis

3. Patients with drug-induced hepatosteatosis ( such as aspirin, methotrexate,
amiodarone, glucocorticoid, tamoxifen, 5-fluorouracil, valproate, nucleoid revers
transcriptase inhibitors)

4. Patients with organomegaly or transaminase elevation due to infectious causes (EBV,
Brucella, cytomegalovirus, salmonella, malaria, leishmania etc), hæmato-oncological
disease (hemolytic anemia, leukemia,lymphoma, malign or benign liver neoplasms),
connective tissue disorders (SLE, RA), cardiac and vascular causes (heart failure,
pericarditis, Budd-Chiari syndrome, portal vein thrombosis) and obesity.

5. Patient with definitive diagnosed chronic liver disease such as chronic viral
hepatitis (B, C hepatitis), autoimmune hepatitis, alpha-1 antitrypsin deficiency,
Wilson disease, metabolic disorders.



Age minimum: 3 Months
Age maximum: 18 Years
Gender: All

Health Condition(s) or Problem(s) studied

Cholesteryl Ester Storage Disease

Primary Outcome(s)

Frequency of Cholesteryl Ester Storage Disease in children who have unexplained transaminase elevation for more than 3 months and/or organomegaly and/or hepatosteatosis unrelated to obesity and/or cryptogenic fibrosis and cirrhosis [Time Frame: First day]

Secondary Outcome(s)

Identify demographic and clinical features of Cholesteryl Ester Storage Disease [Time Frame: First day]

Secondary ID(s)

LALD-TR

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Alexion Pharmaceuticals