Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
Condition: 22q13 Deletion Syndrome; Phelan-McDermid Syndrome
MeSH terms: Chromosome Disorders; Syndrome; Chromosome Deletion
Study type: Interventional
Phase: Phase 2

Summary: 
      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.
    

Detailed description: 
      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
    

Intervention name(s): Insulin-Like Growth Factor-1 (IGF-1); Normal saline
Intervention type(s): Drug; Drug
Intervention description(s): IGF-1 and placebo will each be administered for 3 months with a four-week washout period in between. IGF-1 will be administered for 3 months subcutaneously.; Saline solution will be administered for three months subcutaneously.
Other intervention name(s): Mecasermin; Increlex; Placebo
Intervention MeSH terms: Mitogens; Mecasermin
Allocation: Randomized
Intervention model: Crossover Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary purpose: Treatment
Keywords: SHANK3; IGF-1; Autism