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

  • STATUS
    Recruiting
  • End date
    Apr 23, 2023
  • participants needed
    35
  • sponsor
    Icahn School of Medicine at Mount Sinai
Updated on 23 March 2021

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.

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

Details
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

Eligibility

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
Clear my responses

How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

You are contacting

Investigator Avatar

Primary Contact

site

0/250

Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

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.

Learn more

Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

Learn more

Similar trials to consider

Loading...

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 

 • 

Private

Reply by • Private
Loading...

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.
Loading...

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note