Phase 2 N=30 Randomized Triple-blind Treatment

Treatment of Rett Syndrome With Recombinant Human IGF-1

Rett Syndrome

Bottom Line

View on ClinicalTrials.gov: NCT01777542 ↗

Enrolled (actual)

Serious AEs

11.1%

Results posted

Mar 2018

Primary outcome: Primary: Rett Syndrome Behavior Questionnaire (RSBQ) - Fear/Anxiety Subscale — 4.00; 5.00; 5.00; 3.00 units on a scale

Study Design & Population

Study type: Interventional
Phase: Phase 2
Interventions: Recombinant Human Insulin Growth Factor 1 (rhIGF-1) (Drug); Placebo (Drug)
Age: Pediatric · 2+ yrs
Sex: Female
Sponsor: Boston Children's Hospital
Primary completion: Jul 2016

Outcome Measures

Outcome	Result	p-value
PRIMARY Rett Syndrome Behavior Questionnaire (RSBQ) - Fear/Anxiety Subscale	4.00; 5.00; 5.00; 3.00; 4.00; 3.00	—
PRIMARY Anxiety, Depression, and Mood Scale (ADAMS) - Social Avoidance Subscale	6.00; 4.00; 5.00; 5.00; 5.00; 4.00	—
PRIMARY Clinical Global Impression - Severity (CGI-S)	4.00; 4.00; 4.00; 4.00; 4.00; 4.00	—
PRIMARY Clinical Global Impression - Improvement (CGI-I)	4.00; 4.00; 4.00; 4.00; 4.00; 4.00	—
PRIMARY Parental Global Impression - Severity (PGI-S)	4.00; 6.00; 4.00; 4.00; 4.00; 4.00	—
PRIMARY Parental Global Impression - Improvement (PGI-I)	4.00; 4.00; 3.00; 4.00; 3.00; 4.00	—
PRIMARY Parent Targeted Visual Analog Scale (PTSVAS) - Scale 1	6.50; 8.80; 4.70; 4.80; 5.65; 5.35	—
PRIMARY Parent Targeted Visual Analog Scale (PTSVAS) - Scale 2	7.75; 6.35; 4.50; 5.25; 5.85; 5.95	—
PRIMARY Parent Targeted Visual Analog Scale (PTSVAS) - Scale 3	7.85; 5.70; 4.70; 5.00; 5.65; 5.20	—
PRIMARY Kerr Clinical Severity Scale	16.50; 18.00; 15.00; 18.00; 15.00; 19.00	—
SECONDARY Rett Syndrome Behavior Questionnaire (RSBQ)	7.00; 4.00; 5.00; 3.00; 6.00; 2.00	—
SECONDARY Anxiety, Depression, and Mood Scale (ADAMS)	8.00; 7.00; 7.00; 7.00; 7.00; 6.00	—
SECONDARY Mullen Scales of Early Learning (MSEL)	17.00; 26.00; 26.00; 39.50; 23.00; 42.00	—
SECONDARY Vineland Adaptive Behavior Scales, Second Edition (VABS-II)	13.00; 18.00; 15.00; 21.00; 18.00; 22.00	—
SECONDARY Communication and Symbolic Behavior Scales - Developmental Profile (CSBS-DP)	19.00; 22.00; 20.00; 24.00; 18.00; 24.00	—
SECONDARY Aberrant Behavior Checklist - Community Edition (ABC-C)	9.00; 6.00; 9.00; 4.00; 7.00; 2.00	—
SECONDARY Quantitative Measures of Respiration: Apnea Index	7.58; 4.05; 4.80; 3.48; 6.93; 3.07	—

Summary

Investigators are recruiting children for a clinical trial using the medication recombinant human IGF-1 (a.k.a. mecasermin or INCRELEX) to see if it improves the health of children with Rett syndrome (RTT). While IGF-1 is approved by the Food & Drug Administration (FDA) for certain use in children, it is considered an investigational drug in this trial because it has not previously been used to treat RTT. Information from this study will help determine if IGF-1 effectively treats RTT but will not necessarily lead to FDA approval of IGF-1 as a treatment for RTT.

Eligibility Criteria

Inclusion Criteria

Diagnosis of "classic" (or "typical") Rett Syndrome
Genetic documentation of MECP2 mutation
Subject must be post-regression (Hagberg Stage 2)
Subject and caregiver's primary language must be English
Subject must reside in North America (US and Canada)
Caregiver must have internet access and be able to complete questionnaires online and communicate via email
Subject is stable on current medications for at least 4 weeks
Subject's regimen of non-pharmacological interventions (physical therapy, speech therapy, etc.) is stable for at least 90 days

Exclusion Criteria

Severe scoliosis (curvature >40 degrees)
Bone-age greater than 11 years
Cardiomegaly (enlarged heart)
Tanner stage 2 or higher breast development
Allergy to IGF-1
Prior use of IGF-1, growth hormone, or sex steroids

View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT01777542). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.