Clinical Trial: IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional
Official Title: Treatment With Recombinant Human Insulin-like Growth Factor 1 (rhIGF-1) in Patients With Pappalysin-2 (PAPP-A2) Gene Mutation.
Brief Summary: With this study we want to investigate the pharmacokinetic (PK) effect of a single injection of rhIGF-1 in patients with PAPP-A2 mutations compared to heterozygous carriers and healthy controls. This will be followed by treatment of PAPP-A2 deficient patients with IGF-1 for a period of one year to assess growth velocity. Additionally we want to further describe the phenotypic characteristics of patients with PAPP-A2 deficiency.
Detailed Summary:
The 24-hour pharmacokinetic response of free and total IGF-1 and IGF binding protein-3 (IGFBP-3) to a single dose of rhIGF-1 (120 mcg/kg) in three patients with PAPP-A2 mutation compared to up to four unaffected heterozygous relatives and 2 healthy adult controls.
One-year trial of rhIGF-1 at standard dose given to the two youngest males with PAPP-A2 mutation. The primary end point of this trial will be first year height velocity. Secondary outcomes will include change in height SDS, change in height velocity SDS, and change in whole body and lumbar spine bone mineral density.
Description of additional phenotypic characteristics of patients with PAPP-A2 mutation by studying glucose and insulin metabolism, body composition, bone geometry and bone density before and after treatment with rhIGF-1.
Sponsor: Children's Hospital Medical Center, Cincinnati
Current Primary Outcome: Improve growth velocity [ Time Frame: One year ]
Original Primary Outcome: Same as current
Current Secondary Outcome: Pharmacokinetic/Pharmacodynamic (PK/PD) relationship [ Time Frame: One year ]
Original Secondary Outcome: Same as current
Information By: Children's Hospital Medical Center, Cincinnati
Dates:
Date Received: November 10, 2015
Date Started: December 2015
Date Completion: June 2017
Last Updated: July 25, 2016
Last Verified: July 2016
