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

  • End date
    Apr 23, 2023
  • participants needed
  • sponsor
    Icahn School of Medicine at Mount Sinai
Updated on 23 March 2021


The purpose of this study is to pilot the use of Insulin-Like Growth Factor-1 (IGF-1) treatment in 22q13 Deletion Syndrome (Phelan-McDermid Syndrome) caused by SHANK3 gene deficiency in order to evaluate safety, tolerability, and efficacy. 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 is being used off-label in the current study and is not FDA approved, nor has it yet been studied in humans for the treatment of SHANK3 deficiency.


Overall, there will be 1-3 screening visits, a baseline visit where study drug will first be administered, and then 10 follow-up visits. Follow-up visits will occur at week 2, week 4, week 8, and week 12 in each treatment phase (IGF-1 or placebo), and then again 4 weeks after study completion, Parents/guardians will be asked to administer the IGF-1/ placebo by injection at home and will also be responsible for monitoring glucose levels in the child. Parents/guardians will be trained in these methods, and will have scheduled phone calls and appointments where the dose and tolerability will be discussed.

Assessments include the following:

  • Physical and neurological examination
  • Medical and psychiatric history
  • X-ray of long bone (e.g., hand) to ensure your child's growth plates are not closed
  • Electrocardiography
  • Echocardiography
  • Pregnancy test if applicable
  • Lab safety measures (through blood draw)
  • Autism Diagnostic Interview (ADI)
  • Autism Diagnostic Observation Schedule (ADOS)
  • The Mullen Scales of Early Learning or the Leiter International Performance Scale-Revised
  • Vineland Adaptive Behavior Scale (VABS)
  • Clinical Global Impressions (CGI) Rating Scales
  • The Repetitive Behaviors Scale (RBS)
  • Aberrant Behavior Checklist (ABC)
  • The Caregiver Strain Questionnaire (CSI)
  • Language Environment Analysis (LENA)
  • The Macarthur-Bates Communication Inventory (MCDI)
  • Unified Parkinson's Disease Rating Scale (UPDRS)
  • Quick Neurological Screening Test 2nd Edition (QNST-2)
  • Gait Analysis with motion capture video systems and interactive 3-dimensional modeling systems

Condition Phelan-McDermid Syndrome, 22q13 Deletion Syndrome, Phelan-McDermid Syndrome, Phelan-McDermid Syndrome, Phelan-McDermid Syndrome, Phelan McDermid Syndrome
Treatment Normal saline, Insulin-Like Growth Factor-1 (IGF-1)
Clinical Study IdentifierNCT01525901
SponsorIcahn School of Medicine at Mount Sinai
Last Modified on23 March 2021


Yes No Not Sure

Inclusion Criteria

to 12 years old
pathogenic deletions or mutations of the SHANK3 gene
stable medication regimens for at least three months prior to enrollment

Exclusion Criteria

closed epiphyses
active or suspected neoplasia
intracranial hypertension
hepatic insufficiency
renal insufficiency
cardiomegaly / valvulopathy
history of allergy to IGF-1 or any component of the formulation (mecasermin)
history of extreme prematurity (<1000 grams) with associated early neo-natal complications, e.g. intra-cerebral hemorrhage, prolonged hypoxia, prolonged hypoglycemia
patients with comorbid conditions deemed too medically compromised to tolerate the risk of experimental treatment with IGF-1
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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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