Clinical Trial: Treatment of Rett Syndrome With Recombinant Human IGF-1

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation With Recombinant Human IGF-1(Mecasermin [rDNA] Injection)

Brief 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.

Detailed Summary:

Enrolled subjects will complete five study periods: screening, two 20-week long treatment periods, a 28-week break between treatment periods ("washout"), and a follow-up phone call 4 weeks after all treatment ends. Subjects will be chosen at random to receive either IGF-1 or placebo during the first treatment period and then switch to the alternate medication for the second treatment period. Therefore, by completion of the trial, all subjects will have received treatment with IGF-1 for 20 weeks. The study will be double-blinded; meaning, neither subjects' families nor study investigators will know who is receiving IGF-1 or placebo at any time. Treatment must be administered by the caregiver twice daily through subcutaneous (just underneath the skin) injections. Caregivers will be trained by research nurses in how to administer the medication. Participation in this study will last approximately eighteen months.

Throughout the course of the trial, investigators will collect information to assess the effects of IGF-1 and monitor for safety. Families must attend study visits at Boston Children's Hospital a total of seven times (including the screening visit) over the course of 18 months. These visits cannot be completed at any other hospital. Parents will fill out questionnaires and undergo a structured interview reporting on their child's health, behavior, and mood. Subjects will undergo clinical and physical examinations by a study doctor. Non-invasive devices and cameras will also be used to monitor things like breathing, hand movements, heart rate, and body temperature. Blood and urine will be collected for routine laboratory tests to monitor for safety. Investigators will also monitor safety by asking parents to complete a medication diary and side effect reporting form on a regular basis. Between trips to Boston Children's Hospital, parents will complete a set
Sponsor: Boston Children’s Hospital

Current Primary Outcome: Rett Syndrome Behavior Questionnaire (RSBQ) [ Time Frame: Every 5 weeks during each of the two 20-week treatment periods, and once 4 weeks after final treatment ends ]

Original Primary Outcome:

  • Rett Syndrome Behavior Questionnaire (RSBQ) [ Time Frame: Every 5 weeks during each of the two 20-week treatment periods, and once 4 weeks after final treatment ends ]
  • Anxiety, Depression, and Mood Scale (ADAMS) [ Time Frame: Every 5 weeks during each of the two 20-week treatment periods, and once 4 weeks after final treatment ends ]
  • Clinical Global Impression Scales [ Time Frame: Every 10 weeks during each of the two 20-week treatment periods ]
  • Parent Global Impression Scales [ Time Frame: Every 5 weeks during each of the two 20-week treatment periods, and once 4 weeks after final treatment ends ]
  • Parent Targeted Symptoms Visual Analog Scale [ Time Frame: Every 5 weeks during each of the two 20-week treatment periods, and once 4 weeks after final treatment ends ]
  • Kerr Clinical Severity Scale [ Time Frame: At the beginning and end of each of the two 20-week treatment periods ]


Current Secondary Outcome: Quantitative Measures of Respiration [ Time Frame: Every 10 weeks during each of the two 20-week treatment periods ]

Original Secondary Outcome:

  • Quantitative Measures of Respiration [ Time Frame: Every 10 weeks during each of the two 20-week treatment periods ]
  • Mullen Scales of Early Learning (MSEL) [ Time Frame: At the beginning and end of each of the two 20-week treatment periods ]
  • Vineland Adaptive Behavior Scales II (VABS-II) [ Time Frame: At the beginning and end of each of the two 20-week treatment periods ]
  • Communication and Symbolic Behavior Scales Developmental Profile [ Time Frame: Every 5 weeks during each of the two 20-week treatment periods, and once 4 weeks after final treatment ends ]
  • Aberrant Behavior Checklist (ABC) [ Time Frame: Every 10 weeks during each of the two 20-week treatment periods, and once 4 weeks after final treatment ends ]
  • Physical Examination [ Time Frame: Every 10 weeks during each of the two 20-week treatment periods ]
  • Parent Current Clinical Report [ Time Frame: Every 5 weeks during each of the two 20-week treatment periods, and once 4 weeks after final treatment ends ]


Information By: Boston Children’s Hospital

Dates:
Date Received: January 23, 2013
Date Started: January 2013
Date Completion:
Last Updated: November 30, 2016
Last Verified: November 2016