Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)

What Was Tested

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

IGF-1 is an injection under the skin that contains human IGF-1.

IGF-1 is approved by the FDA under the brand name Increlex for the treatment of children with short stature due to primary IGF-1 deficiency.

It had two arms (groups): Insulin-Like Growth Factor-1 (IGF-1) (experimental) and Normal saline (placebo comparator).

Injection.

Injection.

The registry classes the interventions as drug.

More on the Plan

Overall, there will be 1-3 screening visits, a baseline visit where study drug will first be administered, and then 10 follow-up visits.

Who Took Part

19 actual participants took part.

It was open to people of any sex aged from 5 years up to 12 years.

Healthy volunteers were not accepted; participants needed the condition being studied.

Examples of who could join: 5 to 12 years old. Pathogenic deletions or mutations of the SHANK3 gene. Stable medication regimens for at least three months prior to enrollment.

The full record lists 3 inclusion and 9 exclusion criteria; among the exclusions: closed epiphyses; active or suspected neoplasia; intracranial hypertension.

How the Study Was Run

The set-up was randomized, crossover and quadruple-blind.

Random assignment meant chance, not the researchers, decided who got IGF-1 LR3 and who got the comparison, which limits bias.

Each person switched between IGF-1 LR3 and the comparison at some point, usually with a gap in between.

Neither the participants nor the staff measuring them knew who was on IGF-1 LR3, so expectations could not easily colour the readings.

Those kept unaware of assignments: participant, care provider, investigator and outcomes assessor.

It started in 2012-02 with completion listed for 2016-08-23.

It ran at 1 site in United States.

Its stated primary purpose is treatment.

What Was Measured

Researchers chose this as the main measure: Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1 (time frame: Baseline and Week 12). Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2 (time frame: Baseline and Week 12).

It also tracked 5 secondary outcomes, for example Change in Repetitive Behavior Scale - Study 2, Change in Caregiver Strain Questionnaire, Change in Sensory Profile (SP) - Study 2 and Change in Short Sensory Profile (SSP) - Study 2.

What This Means in Plain Language

Put simply, this is a phase 2, randomized trial of IGF-1 LR3 in 19 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.