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)
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 入组人数
- 19
- 试验地点
- 1
- 主要终点
- Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1
研究概览
简要总结
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.
详细描述
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
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Crossover
- 主要目的
- Treatment
- 盲法
- Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
入排标准
- 年龄范围
- 5 Years 至 12 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •5 to 12 years old
- •pathogenic deletions or mutations of the SHANK3 gene
- •stable medication regimens for at least three months prior to enrollment
排除标准
- •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
研究组 & 干预措施
Insulin-Like Growth Factor-1 (IGF-1)
Injection
干预措施: Insulin-Like Growth Factor-1 (IGF-1) (Drug)
Normal saline
Injection
干预措施: Normal saline (Drug)
结局指标
主要结局
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1
时间窗: Baseline and Week 12
16 items on ABC-SW subscale, Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). Total score from 0 to 48 with higher score indicating poorer health outcomes.
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2
时间窗: Baseline and Week 12
16 items on ABC-SW subscale, Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). Total score from 0 to 48 with higher score indicating poorer health outcomes..
次要结局
- Change in Sensory Profile (SP) - Study 2(Baseline and Week 12)
- Change in Short Sensory Profile (SSP) - Study 2(Baseline and 12 weeks)
- Change in Repetitive Behavior Scale - Study 2(Baseline and Week 12)
- Change in CGI-Improvement and Severity Scales; - Study 2(Baseline and Week 12)
- Change in Caregiver Strain Questionnaire(Baseline and Week 12)
研究者
Alexander Kolevzon
Principal Investigator
Icahn School of Medicine at Mount Sinai