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Osteoporosis in RETT Syndrome

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Disease Information

Descriptive Information
Brief Title † Osteoporosis in RETT Syndrome
Official Title † 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 Phase N/A
Study Type † Interventional
Study Design † Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic
Primary Outcome Measure † osteoporosis in RETT patients
Secondary Outcome Measure † Biological Mechanisms of osteoporosis
Condition † RETT Syndrome With Proven MECP2 Mutation
Intervention † Otherbiological markers and evaluation of the mineral density at the lumber spine using DEXA
Study Arms / Comparison Groups RETT patients
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status † Other
Estimated Enrollment † 98
Start Date † December 2009
Completion Date June 2016
Primary Completion Date December 2015
Eligibility Criteria † Inclusion Criteria: - RETT syndrome - MECP2 mutation Exclusion Criteria: - no identified MECP2 mutation - history of drugs that interfere with bone metabolism
Gender Female
Ages 5 Years - 45 Years
Accepts Healthy Volunteers No
Contacts ††
Location Countries † France
Administrative Information
NCT ID † NCT02110797
Organization ID P071230
Secondary IDs ††
Responsible Party Sponsor
Study Sponsor † Assistance Publique - Hôpitaux de Paris
Collaborators ††
Investigators † Principal Investigator: Agnès Linglart, MD, PhD, Kremlin Bicêtre hospital
Information Provided By
Verification Date July 2015
First Received Date † April 2, 2014
Last Updated Date July 20, 2015
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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