Clinical Trial: Study to Re-assess and Re-confirm Data Previously Recorded About the Incidence and Severity of Acute Abdominal "Pancreatitis" Episodes in Lipoprotein Lipase Deficient (LPLD) Subjects Previously Enrolled on AMT Clinical Studies

Study Status: Completed
Recruit Status: Unknown status
Study Type: Observational

Official Title: A Clinical Records Review Study of the Frequency and Severity of Acute Abdominal "Pancreatitis" Episodes Reported From LPLD Subjects Previously Recruited to Clinical Studies PREPARATION-02,

Brief Summary:

Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited condition caused by homozygosity or compound heterozygosity for mutations within the LPL gene. LPLD results in subjects presenting with fasting plasma triglyceride (TG) levels of > 10 mmol/l. LPLD typically presents in infancy or childhood with usual complaints of severe abdominal pain, repetitive colicky pains and repeated episodes of acute pancreatitis The most severe clinical complication associated with LPLD is acute pancreatitis. Pancreatitis in an LPLD subject often leads to prolonged hospital admissions (sometimes up to weeks). Subjects who survive repeated episodes of acute pancreatitis may develop chronic pancreatitis, ultimately resulting in endocrine and exocrine pancreatic insufficiency.

The clinical manifestations of acute pancreatitis episodes related to LPLD are largely indistinguishable from acute pancreatitis due to other causes. However, collection of data relating to hospital admissions, laboratory test results, scan images and adverse events occurring concomitantly to the acute pancreatic episode should allow elimination of other causes of pancreatitis (e.g gallstones etc) and ultimately allow confirmation of LPLD-related acute pancreatitis. Characterization of the presentation of symptoms which occur around the time of known episodes of LPLD-related acute pancreatitis should also permit identification of episodes of acute pancreatitis which have previously been considered as unrelated or even unrecognized.

The objective of the study is to re-assess and re-confirm data previously recorded about the incidence and severity of acute abdominal "pancreatitis" episodes in LPLD subjects previously enrolled on AMT clinical studies. To assess and document the presentation of acute abdominal episodes that occur around known epis

Detailed Summary:

Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited condition caused by homozygosity or compound heterozygosity for mutations within the LPL gene.

The most severe clinical complication associated with LPLD is acute pancreatitis. Pancreatitis in an LPLD subject often leads to prolonged hospital admissions. Subjects who survive repeated episodes of acute pancreatitis may develop chronic pancreatitis, ultimately resulting in endocrine and exocrine pancreatic insufficiency.

The clinical manifestations of acute pancreatitis episodes related to LPLD are largely indistinguishable from acute pancreatitis due to other causes. However, collection of data relating to hospital admissions, laboratory test results, scan images and adverse events occurring concomitantly to the acute pancreatic episode should allow elimination of other causes of pancreatitis (e.g. gallstones etc) and ultimately allow confirmation of LPLD-related acute pancreatitis. Characterisation of the presentation of symptoms which occur around the time of known episodes of LPLD-related acute pancreatitis should also permit identification of episodes of acute pancreatitis which have previously been considered as unrelated or even unrecognized.

Alipogene tiparvovec (Glybera®) is in development for the therapy of LPLD. In summary, alipogene tiparvovec contains the human lipoprotein (LPL) gene variant LPLS447X in a non-replicating vector in solution administered in a one-time series of intramuscular injections in the arms/legs.

Studies conducted to date with Glybera have evaluated total triglyceride levels as a surrogate marker for efficacy and have not evaluated a clinical endpoint such as acute pancreatitis episodes as a primary endpoint. Post-h
Sponsor: Amsterdam Molecular Therapeutics

Current Primary Outcome: Incidence and severity of acute abdominal "pancreatitis" episodes in LPLD subjects [ Time Frame: Retrospective ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

• Acute abdominal episodes that occur around known episodes of LPLD pancreatitis [ Time Frame: Retrospective ]
  To assess and document the presentation of acute abdominal episodes that occur around known episodes of LPLD pancreatitis
• Previously unrecorded episodes of pancreatitis [ Time Frame: Retrospective ]

  To permit identification as far as possible new previously unrecorded episodes of pancreatitis based upon the Atlanta diagnostic criteria for acute pancreatitis

  • Recorded in LPLD subjects past medical history prior to alipogene tiparvovec therapy, and
  • Recorded in LPLD subjects, post alipogene tiparvovec therapy
• Initial onset, duration, and frequency of pancreatitis episodes [ Time Frame: Up to 5 years ]
  To document initial onset, duration, and frequency of pancreatitis episodes in the defined LPLD subject population over a period of five years
• Initial onset and presence of chronic pancreatitis [ Time Frame: Up to 5 years ]
  To assess the initial onset and presence of chronic pancreatitis over a period of five years
• initial onset and presence of the late complications of chronic pancreatitis [ Time Frame: Up to 5 years ]
  To determine the initial onset and presence of the late complications of chronic pancreatitis including exocrine and endocrine insufficiency over a period of five years

Original Secondary Outcome: Same as current

Information By: Amsterdam Molecular Therapeutics

Dates:
Date Received: October 3, 2011
Date Started: November 2010
Date Completion: March 2016
Last Updated: October 6, 2011
Last Verified: October 2011