IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency

What Was Tested

The trial (phase 1, phase 2) is built around IGF-1 LR3.

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, the researchers want to further describe the phenotypic characteristics of patients with PAPP-A2 deficiency.

It had 1 arm (groups): PAPP-A2 deficient patients (experimental).

Patients deficient in PAPP-A2 with short stature will be treated with Increlex (rhIGF-1).

The registry classes the interventions as drug.

More on the Plan

The primary end point of this trial will be first year height velocity.

Secondary outcomes will include height standard deviation score (SDS), height velocity, and whole body and lumbar spine bone mineral density assessment.

The study was amended to extend the treatment period to continue until the subject has stopped growing (or elects to withdraw).

All study procedures remain the same.

Who Took Part

7 actual participants took part.

It was open to people of any sex aged from 10 years with no upper age limit.

Healthy volunteers could join, not only people with the condition.

Examples of who could join: Defect in PAPP-A2 (heterozygous or homozygous mutation).

The full record lists 1 inclusion and 5 exclusion criteria; among the exclusions: between the ages of 18 and 30; in general good health; any medications (with the exception of contraceptives).

How the Study Was Run

Design: single-group and open-label.

Nothing was hidden in this open-label IGF-1 LR3 study: the participants and staff both knew the treatment.

Everyone received the same intervention, so there was no separate comparison group inside the trial.

It started in 2015-12-21 with completion listed for 2022-10-14.

Its stated primary purpose is treatment.

What Was Measured

Primary outcome: Height Velocity (time frame: Yearly until participant on treatment stops growing, or discontinues treatment (up to 6 years)).

It also tracked 2 secondary outcomes, for example Height Standard Deviation Score.

What This Means in Plain Language

Put simply, this is a phase 1, phase 2 trial of IGF-1 LR3 in 7 people.

Its size is small, so on its own it can only give an early look.

The trial is marked completed; results are posted on the registry, and this page does not restate them.

More context: the IGF-1 LR3 compound page, all human trials.