This trial is active, not recruiting.

Condition short stature
Treatment increlex
Phase phase 1/phase 2
Sponsor Children's Hospital Medical Center, Cincinnati
Start date December 2015
End date December 2016
Trial size 7 participants
Trial identifier NCT02636270, 2015-6218


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Endpoint classification efficacy study
Intervention model single group assignment
Masking open label
Primary purpose treatment
Patients deficient in PAPP-A2 with short stature will be treated with Increlex (rhIGF-1)
increlex rhIGF-1
Treat PAPP-A2 deficient patients with Increlex

Primary Outcomes

Improve growth velocity
time frame: One year

Secondary Outcomes

Pharmacokinetic/Pharmacodynamic (PK/PD) relationship
time frame: One year

Eligibility Criteria

Male or female participants at least 10 years old.

PAPP-A2 deficient Inclusion Criteria: - Defect in PAPP-A2 (heterozygous or homozygous mutation) Exclusion Criteria: Healthy Volunteers Inclusion Criteria: - Between the ages of 18 and 30 - In general good health Exclusion Criteria: - Any medications (with the exception of contraceptives) - Pregnancy

Additional Information

Official title Treatment With Recombinant Human Insulin-like Growth Factor 1 (rhIGF-1) in Patients With Pappalysin-2 (PAPP-A2) Gene Mutation.
Principal investigator Andrew Dauber, MD
Description 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.
Trial information was received from ClinicalTrials.gov and was last updated in July 2016.
Information provided to ClinicalTrials.gov by Children's Hospital Medical Center, Cincinnati.