Familial Hyperchylomicronemia, Familial Hyperlipoproteinemia Type 1, Lipoprotein Lipase Deficiency
Conditions
Brief summary
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 Glybera Registry is designed to collect the long-term safety and efficacy data of GLYBERA®
Detailed description
All patients treated with GLYBERA®, in a clinical trial and when GLYBERA® was commercially available who are currently participating in the LPLD Registry (Long term follow up of safety and efficacy in LPLD), will be asked to continue their participation in this Glybera Registry to collect long-term safety and efficacy data.
Interventions
OTHERObservational study
Post-Authorization Safety Study
Sponsors
UniQure Biopharma B.V.
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* All patients treated with GLYBERA®, either during their participation in a clinical trial or in the commercial setting till October 25th, 2017 (= expiration date of Marketing Authorization of GLYBERA®), and * Who are currently participating in the LPLD Registry
Exclusion criteria
* None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Long-term collection of Safety and Efficacy of GLYBERA®, as measured by collection of Adverse Events, Immunological responses and information on Pancreatitis-events | 15 years | Adverse Events will be collected as reported by the patients during routine visits/contacts. Immunological responses defined as antibody formation and T-cell responses against the AAV1-capsid and against the LPLS447X transgene product, measured just before dosing and at 6 and 12 months post-dosing. Pancreatitis-events will be collected as reported by the patients during routine visits/contacts |
Countries
Germany
Outcome results
None listed