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Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)

This study has been completed.
Sponsor:
Collaborators:
International Rett Syndrome Foundation
Autism Speaks
Information provided by (Responsible Party):
Mustafa Sahin, Boston Children's Hospital
ClinicalTrials.gov Identifier:
NCT01253317
First received: December 2, 2010
Last updated: June 20, 2017
Last verified: June 2017
Results First Received: May 13, 2014  
Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment;   Masking: No masking;   Primary Purpose: Treatment
Condition: Rett Syndrome
Intervention: Drug: rhIGF-1

  Participant Flow
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Recruitment Details
Key information relevant to the recruitment process for the overall study, such as dates of the recruitment period and locations
No text entered.

Pre-Assignment Details
Significant events and approaches for the overall study following participant enrollment, but prior to group assignment
No text entered.

Reporting Groups
  Description
Open-label IGF-1 Treatment

Twelve girls with MECP2 mutations participated in the 4-week multiple ascending dose (MAD) period of open-label treatment with IGF-1 (mecasermin). The MAD focused on obtaining PK data, determining cerebrospinal fluid (CSF) penetration, evaluating safety and tolerability, and estimating feasibility of automated cardiorespiratory measures as biomarkers. Mecasermin was escalated over a 4-week period, beginning with twice daily injections of 40 mcg/kg the first week, 80 mcg/kg the second week, and 120 mcg/kg during the third and fourth weeks. CSF samples were obtained prior to initiating treatment and after completing the fourth week.

10 of these subjects went on to complete the open label extension (OLE). The OLE was designed to obtain additional information on safety, tolerability, and cardiorespiratory measures after 20-weeks of treatment, as well as preliminary data on neurologic and behavioral parameters. During the 20-week OLE subjects were evaluated every 5 weeks.


Participant Flow:   Overall Study
    Open-label IGF-1 Treatment
STARTED   12 
COMPLETED   10 
NOT COMPLETED   2 
Adverse Event                2 



  Baseline Characteristics
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Population Description
Explanation of how the number of participants for analysis was determined. Includes whether analysis was per protocol, intention to treat, or another method. Also provides relevant details such as imputation technique, as appropriate.
Twelve girls with MECP2 mutations participated in the 4-week MAD period; ten of them continued and completed the subsequent 20-week OLE. Nine subjects met full diagnostic criteria for RTT, all of whom continued in the OLE.

Reporting Groups
  Description
Open-label IGF-1 Treatment

Twelve girls with MECP2 mutations participated in the 4-week multiple ascending dose (MAD) period of open-label treatment with IGF-1 (mecasermin). The MAD focused on obtaining PK data, determining cerebrospinal fluid (CSF) penetration, evaluating safety and tolerability, and estimating feasibility of automated cardiorespiratory measures as biomarkers. Mecasermin was escalated over a 4-week period, beginning with twice daily injections of 40 mcg/kg the first week, 80 mcg/kg the second week, and 120 mcg/kg during the third and fourth weeks. CSF samples were obtained prior to initiating treatment and after completing the fourth week.

10 of these subjects went on to complete the open label extension (OLE). The OLE was designed to obtain additional information on safety, tolerability, and cardiorespiratory measures after 20-weeks of treatment, as well as preliminary data on neurologic and behavioral parameters. During the 20-week OLE subjects were evaluated every 5 weeks.


Baseline Measures
   Open-label IGF-1 Treatment 
Overall Participants Analyzed 
[Units: Participants]
 12 
Age 
[Units: Participants]
Count of Participants
 
<=18 years      12 100.0% 
Between 18 and 65 years      0   0.0% 
>=65 years      0   0.0% 
Sex: Female, Male 
[Units: Participants]
Count of Participants
 
Female      12 100.0% 
Male      0   0.0% 
Race (NIH/OMB) 
[Units: Participants]
Count of Participants
 
American Indian or Alaska Native      0   0.0% 
Asian      2  16.7% 
Native Hawaiian or Other Pacific Islander      0   0.0% 
Black or African American      0   0.0% 
White      10  83.3% 
More than one race      0   0.0% 
Unknown or Not Reported      0   0.0% 
Ethnicity (NIH/OMB) 
[Units: Participants]
Count of Participants
 
Hispanic or Latino      0   0.0% 
Not Hispanic or Latino      12 100.0% 
Unknown or Not Reported      0   0.0% 
Region of Enrollment 
[Units: Participants]
 
United States   12 


  Outcome Measures
  Show All Outcome Measures

1.  Primary:   Adverse Events   [ Time Frame: biweekly during the MAD and every five weeks during the OLE ]

2.  Primary:   Pharmacokinetic (PK) Profile - Areas Under the Curve (AUCt)   [ Time Frame: 60 minutes pre-dose and 0.5, 1.0, 1.5, 2.0, 3.0, 4.0, 8.0, and 12.0 hours post-dose on days 1, 8, 15 and 29. ]

3.  Secondary:   Change From Pre-MAD Apnea Index at Post-OLE   [ Time Frame: pre-MAD (baseline) to post-OLE (after 20 weeks of IGF-1 treatment) ]

4.  Secondary:   Change in Social Avoidance Subscale Scores on the ADAMS From Pre-OLE to Post-OLE   [ Time Frame: Pre-OLE (visit 1) and post-OLE (after 20 weeks of IGF-1 therapy) ]


  Serious Adverse Events


  Other Adverse Events


  Limitations and Caveats
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Limitations of the study, such as early termination leading to small numbers of participants analyzed and technical problems with measurement leading to unreliable or uninterpretable data
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  More Information
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Certain Agreements:  
All Principal Investigators ARE employed by the organization sponsoring the study.


Results Point of Contact:  
Name/Title: Walter E. Kaufmann, MD
Organization: Boston Children's Hospital
phone: 617-355-5230
e-mail: rettresearch@childrens.harvard.edu



Responsible Party: Mustafa Sahin, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT01253317     History of Changes
Other Study ID Numbers: 10-08-0403
Study First Received: December 2, 2010
Results First Received: May 13, 2014
Last Updated: June 20, 2017