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Prevalence of lysosomal acid lipase deficiency (LAL-D) in patients waitlisted for liver transplantation in Germany by analysis of dried blood specimens and gene sequencing

Conditions
E75.5
Other lipid storage disorders
Registration Number
DRKS00014242
Lead Sponsor
Alexion Pharma Germany GmbH
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Pending
Sex
All
Target Recruitment
1000
Inclusion Criteria

Patient waitlisted for LT (liver transplantation)
- Informed consent form signed by patient or legal representative(s).

Exclusion Criteria

none

Study & Design

Study Type
observational
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Primary objective is the evaluation of the prevalence of LAL-D in a high-risk population of patients waitlisted for liver transplantation in Germany; diagnosis based on measurement of LAL enzyme activity of =20 µmol/L/h in dried blood spot specimens.
Secondary Outcome Measures
NameTimeMethod
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