Familial Lipoprotein Lipase Deficiency Clinical Trial
Official title:
An Open-label Study to Assess the Efficacy and Safety of Alipogene Tiparvovec (AMT-011), Human LPL [S447X], Expressed by an Adeno-Associated Viral Vector After Intramuscular Administration in LPL-deficient Adult Subjects
This trial is designed to expand the currently available data on the safety and efficacy of alipogene tiparvovec treatment in lipoprotein lipase deficiency (LPLD) and to further the understanding of possible mechanisms of action of the therapy.
LPLD is a rare autosomal recessive disorder, characterized by the presence of marked
chylomicronemia and hence hypertriglyceridemia. Clinically the most severe manifestation of
chylomicronemia, is acute pancreatitis, which can be lethal. There is no effective therapy
available to modulate the course of the illness and prevent complications for these
patients. The current clinical management consists of severe reduction of dietary fat that
is hard if not almost impossible to comply with. LPLD subjects continue to experience
pancreatitis attacks, and are admitted to intensive care units on several occasions.
Alipogene tiparvovec corrects or restores lipoprotein lipase (LPL) function long term, and
hence reverses some symptoms, halts the disease progression and prevents further
complications. Alipogene tiparvovec gene therapy ensures that a catabolically beneficial
variant of the human LPL gene, LPL[S447X] is expressed and active in the relevant tissues in
humans. Delivery of the gene is realized via intramuscular injection of an adeno-associated
viral vector, pseudotyped with AAV1 capsids.
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Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Active, not recruiting |
NCT01109498 -
Safety and Efficacy in LPL-Deficient Subjects of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein Lipase [S447X]
|
Phase 2/Phase 3 |