Trial record 10 of 26 for:    bone health, calcium, osteoporosis | Child

Osteoporosis in RETT Syndrome (OSRETT)

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2014 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT02110797
First received: April 2, 2014
Last updated: April 8, 2014
Last verified: April 2014
  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: 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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    RANK-ligand and osteoprotegerin concentrations


Estimated Enrollment: 120
Study Start Date: December 2009
Estimated Study Completion Date: June 2015
Estimated Primary Completion Date: December 2014 (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

Ages Eligible for Study:   5 Years to 45 Years
Genders 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02110797

Contacts
Contact: Agnès Linglart, MD, PhD agnes.linglart@inserm.fr
Contact: laurence lecomte 1 71 19 64 94 ext +33 laurence.lecomte@nck.aphp.fr

Locations
France
Kremlin bicêtre Recruiting
Bicêtre, France, 94275
Contact: agnès linglart, M       agnes.linglart@inserm.fr   
Contact: laurence Lecomte, PhD    1 71 19 64 94 ext +33    laurence.lecomte@nck.aphp.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Agnès Linglart, MD, PhD Kremlin Bicêtre hospital
  More Information

No publications provided

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02110797     History of Changes
Other Study ID Numbers: P071230
Study First Received: April 2, 2014
Last Updated: April 8, 2014
Health Authority: France: Ministry of Health

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
Rett Syndrome
Musculoskeletal Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Genetic Diseases, X-Linked
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on August 18, 2014