Last updated on February 2018

GENIALL Lipoprotein Lipase Deficiency (LPLD) Disease Registry

Brief description of study

Lipoprotein lipase deficiency (LPLD) is a rare autosomal recessive disorder, characterized by loss-of function mutations in the LPL gene, leading to the inability to produce functionally active lipoprotein lipase (LPL). LPL is the key enzyme in the metabolism of triglyceride (TG)-rich lipoproteins (chylomicrons (CM) and very low-density lipoproteins (VLDL)). LPLD results in extremely high concentrations of circulating TG-rich lipoproteins.

No drug therapy for LPLD is currently available. Clinical management of LPLD patients consists of severe dietary fat restriction and the use of medium-chain triglycerides to substitute for normal dietary fats.

Alipogene tiparvovec (Glybera) received marketing authorisation from the European commission on 25 October 2012. Glybera aims to correct lipoprotein lipase deficiency sufficiently to decrease the morbidity and lower the risk of inherent complications of LPLD, in adult patients genetically diagnosed with LPLD.

The LPLD Registry is designed to collect further data on disease characteristics and to enable a continued evaluation of long term safety and clinical response of Glybera in LPLD patients.

Detailed Study Description

The LPLD Registry is an observational, longitudinal, pharmaco-epidemiologic study in lipoprotein lipase deficient (LPLD) patients, either treated or not treated with Glybera to assess the long-term safety and efficacy of the drug, as well as the epidemiology of the disease. Data from a dietary questionnaire to be completed over a 1-week prospective period as well as questionnaires about quality of life, general lifestyle, habits, social life, work ability and general well-being will be collected from participating treated and untreated patients at study inclusion and over the duration of the Registry program (15 years) during the normal course of patient care (at 3, 6, 12 and 24 months), and once every 2 years thereafter). All patients will also be asked to fill out a Patient Event diary at 6, 12 and 24 months following their inclusion in the registry. Previously untreated adult (<18 years) patients will have the option to receive treatment during the course of the Registry program; participants who do not wish to receive treatment will be followed strictly for epidemiological and demographic purposes.

Clinical Study Identifier: NCT03293810

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Elisabeth Steinhagen-Thiessen, MD, PhD

Interdisciplinary Metabolism Center, Lipid Out-Patient-Clinic, Lipid Apheresis, Charit , University of Berlin
Berlin, Germany

Recruitment Status: Closed

Brief Description Eligibility Contact Research Team

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