Glybera Registry, Lipoprotein Lipase Deficient (LPLD) Patients

NCT03293810 | Completed

• 1 other identifier: REG-uQ-Glyb-001
• Study Type: observational
• Target: 16
• Locations: 1 country
• Sites: 1

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®

Conditions

Lipoprotein Lipase Deficiency; Familial Hyperlipoproteinemia Type 1; Familial Hyperchylomicronemia

Outcome Measures

Primary Outcomes (1)

• Long-term collection of Safety and Efficacy of GLYBERA®, as measured by collection of Adverse Events, Immunological responses and information on Pancreatitis-events

  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

  15 years

Interventions

Observational study OTHER

Post-Authorization Safety Study

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients treated with GLYBERA®, either during their participation in a clinical trial or in the commercial setting till October 25th, 2017

You may qualify if:

• 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

You may not qualify if:

• None

Sponsors & Collaborators

• UniQure Biopharma B.V.: lead

Study Sites (1)

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

Berlin, 13353, Germany

Location

MeSH Terms

Conditions

Hyperlipoproteinemia Type I

Interventions

Observation

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Officials

• Maurizio Averna, Prof

  Universitaria Policlinico Paolo Giaccone, Palermo

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Target Duration: 15 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 20, 2015
• First Posted: September 26, 2017
• Study Start: June 27, 2014
• Primary Completion: June 1, 2023
• Study Completion: June 1, 2023
• Last Updated: November 27, 2023

Record last verified: 2023-11

Locations

DE (1)