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Osteoporosis in RETT Syndrome (OSRETT)

This study is ongoing, but not recruiting participants.
Sponsor:
ClinicalTrials.gov Identifier:
NCT02110797
First Posted: April 10, 2014
Last Update Posted: July 6, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
  Purpose

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

Condition Intervention
RETT Syndrome With Proven MECP2 Mutation Other: biological markers and evaluation of the mineral density at the lumber spine using DEXA

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Osteoporosis in RETT Syndrome. Understanding the Mechanisms and Identification of Biomarkers.

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • osteoporosis in RETT patients [ Time Frame: Day 0 ]
    Correlation between clinical/biological risk factors and mineral density and osteoporosis in RETT patients


Secondary Outcome Measures:
  • Biological Mechanisms of osteoporosis [ Time Frame: Day 0 ]
    RANK-ligand and osteoprotegerin concentrations


Enrollment: 98
Study Start Date: December 2009
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: September 2016 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
RETT patients Other: biological markers and evaluation of the mineral density at the lumber spine using DEXA

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
  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 45 Years   (Child, Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • RETT syndrome
  • MECP2 mutation

Exclusion Criteria:

  • no identified MECP2 mutation
  • history of drugs that interfere with bone metabolism
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02110797


Locations
France
Kremlin bicêtre
Bicêtre, France, 94275
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Agnès Linglart, MD, PhD Kremlin Bicêtre hospital
  More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02110797     History of Changes
Other Study ID Numbers: P071230
First Submitted: April 2, 2014
First Posted: April 10, 2014
Last Update Posted: July 6, 2016
Last Verified: July 2016

Keywords provided by Assistance Publique - Hôpitaux de Paris:
RETT syndrome
MECP2
Osteoporosis
RANK-ligand
osteoprotegerin

Additional relevant MeSH terms:
Osteoporosis
Bone Diseases, Metabolic
Bone Diseases
Syndrome
Rett Syndrome
Disease
Pathologic Processes
Musculoskeletal Diseases
Metabolic Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System