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

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 - LAL-D LTW

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00014242

Enrollment

1000

Registered

2018-03-06

Start date

2018-04-16

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

E75.5

Interventions

Group 1: - Patienten = 18 years of age - waitlisted for liver transplantation - signed informed consent. Patients will be contacted in the course of a routine visit to the transplantation center and i

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Inclusion criteria

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

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
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

Measure	Time frame
- Prevalence of suspected heterozygous LIPA gene mutation (carrier status) based on measurement of reduced LAL enzyme activity of =60 µmol/L/h but >20 µmol/L/h - Molecular genetic confirmation of enzyme-test-based LAL-D diagnosis in patients with LAL activity =20 µmol/L/h by LIPA gene sequencing - Molecular genetic confirmation of enzyme-test-based suspected presence of heterozygous LIPA gene mutation (carrier status) in patients with LAL activity =60 µmol/L/h but >20 µmol/L/h by LIPA gene sequencing - Evaluation of results of molecular genetic analysis of LIPA gene - Evaluation of correlation between LAL enzyme activity detected and LIPA mutations identified by gene sequencing - Evaluation of possible correlations between LAL enzyme activity as well as mutations detected and relevant parameters of patients’ medical history in patients with LAL activity =60 µmol/L/h but >20 µmol/L/h - Evaluation of possible correlations between enzyme-test-based LAL-D diagnosis as well as mutations detected and relevant parameters of patients’ medical history in patients with LAL activity =20 µmol/L/h - Documentation of adverse events (AEs) related to blood sample collection for study-related procedures	—

Measure

Time frame

- Prevalence of suspected heterozygous LIPA gene mutation (carrier status) based on measurement of reduced LAL enzyme activity of =60 µmol/L/h but >20 µmol/L/h - Molecular genetic confirmation of enzyme-test-based LAL-D diagnosis in patients with LAL activity =20 µmol/L/h by LIPA gene sequencing - Molecular genetic confirmation of enzyme-test-based suspected presence of heterozygous LIPA gene mutation (carrier status) in patients with LAL activity =60 µmol/L/h but >20 µmol/L/h by LIPA gene sequencing - Evaluation of results of molecular genetic analysis of LIPA gene - Evaluation of correlation between LAL enzyme activity detected and LIPA mutations identified by gene sequencing - Evaluation of possible correlations between LAL enzyme activity as well as mutations detected and relevant parameters of patients’ medical history in patients with LAL activity =60 µmol/L/h but >20 µmol/L/h - Evaluation of possible correlations between enzyme-test-based LAL-D diagnosis as well as mutations detected and relevant parameters of patients’ medical history in patients with LAL activity =20 µmol/L/h - Documentation of adverse events (AEs) related to blood sample collection for study-related procedures

—

Countries

Germany

Contacts

Public ContactZrinjka Hardenberg

Alexion Pharma Germany GmbH

zrinjka.hardenberg@alexion.com089/457091370

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026