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Osteoporosis in RETT Syndrome

NCT02110797 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 98

Last updated 2026-04-08

No results posted yet for this study

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

Conditions

  • RETT Syndrome With Proven MECP2 Mutation

Interventions

OTHER

biological markers and evaluation of the mineral density at the lumber spine using DEXA

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Agnès Linglart, MD, PhD · Kremlin Bicêtre hospital

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
5 Years
Max Age
45 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2009-12-10
Primary Completion
2014-06-06
Completion
2014-06-06

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02110797 on ClinicalTrials.gov