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Osteoporosis in RETT Syndrome (OSRETT)

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ClinicalTrials.gov Identifier: NCT02110797
Recruitment Status : Completed
First Posted : April 10, 2014
Last Update Posted : March 19, 2018
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Tracking Information
First Submitted Date  ICMJE April 2, 2014
First Posted Date  ICMJE April 10, 2014
Last Update Posted Date March 19, 2018
Actual Study Start Date  ICMJE December 10, 2009
Actual Primary Completion Date June 6, 2014   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: April 8, 2014)
osteoporosis in RETT patients [ Time Frame: Day 0 ]
Correlation between clinical/biological risk factors and mineral density and osteoporosis in RETT patients
Original Primary Outcome Measures  ICMJE Same as current
Change History Complete list of historical versions of study NCT02110797 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures  ICMJE
 (submitted: April 8, 2014)
Biological Mechanisms of osteoporosis [ Time Frame: Day 0 ]
RANK-ligand and osteoprotegerin concentrations
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Osteoporosis in RETT Syndrome
Official Title  ICMJE Osteoporosis in RETT Syndrome. Understanding the Mechanisms and Identification of Biomarkers.
Brief Summary

Based on our clinical observations, many girls with RETT syndrome, a severe neuro-developmental encephalopathy, suffer from osteoporosis which can appear at a very early age (before age 10) and can lead to fractures, pain and a limitation in mobility. Few epidemiological studies have estimated the frequency of osteoporosis in girls with RETT syndrome and showed that they are more exposed then children with other neuro-developmental diseases with a same degree of neurological handicap. However, the mechanisms that lead to early osteoporosis in RETT syndrome remain unknown. Mutations in the MECP2 gene are found in 95% of RETT patients and preliminary experimental studies have shown that this can lead to abnormal expression of the gene that codes for osteoprotegerin, a protein implicated in bone remodelling by interacting with RANK-ligand.

In order to identify risk factors of osteoporosis in RETT syndrome and to understand the pathophysiological mechanisms the study protocol includes:

  1. Clinical evaluation of bone health (history of bone fractures, pain, nutritional status, pubertal stage, daily caloric/calcium intake, anti-epileptic drugs, walking ability, vitamin D satus)
  2. evaluation of the mineral density at the lumber spine using DEXA
  3. measuring concentrations of osteoprotegerin and RANK-ligand
Detailed Description

Based on our clinical observations, many girls with RETT syndrome, a severe neuro-developmental encephalopathy, suffer from osteoporosis which can appear at a very early age (before age 10) and can lead to fractures, pain and a limitation in mobility. Few epidemiological studies have estimated the frequency of osteoporosis in girls with RETT syndrome and showed that they are more exposed to osteoporosis then children with other neuro-developmental diseases with a same degree of neurological handicap. However, the mechanisms that lead to early osteoporosis in RETT syndrome remain unknown.

Mutations in the MECP2 gene are found in 95% of RETT patients. Preliminary experimental studies on the transcriptional consequences of MECP2 mutations showed that the expression of 13 genes were significantly dysregulated and one of them is the gene that codes for osteoprotegerin, a soluble receptor that binds to RANK-ligand. RANK-ligand is an osteoclastic differentiation factor expressed by osteoblasts.

In order to identify risk factors of osteoporosis in RETT syndrome and to understand the pathophysiological mechanisms the study protocol includes:

  1. Clinical evaluation of bone health (history of bone fractures, pain, nutritional status, pubertal stage, daily caloric/calcium intake, anti-epileptic drugs, walking ability, vitamin D status)
  2. evaluation of the mineral density at the lumber spine using DEXA
  3. measuring concentrations of osteoprotegerin and RANK-ligand
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Condition  ICMJE RETT Syndrome With Proven MECP2 Mutation
Intervention  ICMJE Other: biological markers and evaluation of the mineral density at the lumber spine using DEXA
Study Arms  ICMJE RETT patients
Intervention: Other: biological markers and evaluation of the mineral density at the lumber spine using DEXA
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Completed
Actual Enrollment  ICMJE
 (submitted: July 20, 2015)
98
Original Estimated Enrollment  ICMJE
 (submitted: April 8, 2014)
120
Actual Study Completion Date  ICMJE June 6, 2014
Actual Primary Completion Date June 6, 2014   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

Inclusion Criteria:

  • RETT syndrome
  • MECP2 mutation

Exclusion Criteria:

  • no identified MECP2 mutation
  • history of drugs that interfere with bone metabolism
Sex/Gender  ICMJE
Sexes Eligible for Study: Female
Ages  ICMJE 5 Years to 45 Years   (Child, Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT02110797
Other Study ID Numbers  ICMJE P071230
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Assistance Publique - Hôpitaux de Paris
Study Sponsor  ICMJE Assistance Publique - Hôpitaux de Paris
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Agnès Linglart, MD, PhD Kremlin Bicêtre hospital
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date March 2018

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP