Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | 5 - 12 |
| Updated: | 8/4/2018 |
| Start Date: | February 2012 |
| End Date: | April 2021 |
| Contact: | Jordana Norry |
| Email: | jordana.norry@mssm.edu |
| Phone: | 212-241-3072 |
A Double-Blind Placebo-Controlled Crossover Trial of Insulin-Like Growth Factor-1 (IGF-1) in Children and Adolescents With 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
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.
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
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
Inclusion Criteria:
- 5 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
We found this trial at
1
site
New York, New York 10029
Principal Investigator: Alexander Kolevzon, MD
Click here to add this to my saved trials
