Osteoporosis in RETT Syndrome

NCT02110797 | Completed

• 1 other identifier: P071230
• Study Type: interventional
• Target: 98
• Locations: 1 country
• Sites: 1

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. 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. 2.evaluation of the mineral density at the lumber spine using DEXA
3. 3.measuring concentrations of osteoprotegerin and RANK-ligand

Conditions

RETT Syndrome With Proven MECP2 Mutation

Keywords

RETT syndrome; MECP2; Osteoporosis; RANK-ligand; osteoprotegerin

Outcome Measures

Primary Outcomes (1)

• osteoporosis in RETT patients

  Correlation between clinical/biological risk factors and mineral density and osteoporosis in RETT patients

  Day 0

Secondary Outcomes (1)

• Biological Mechanisms of osteoporosis

  Day 0

Study Arms (1)

RETT patients

OTHER

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

Interventions

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

RETT patients

Eligibility Criteria

• Age: 5 Years - 45 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• RETT syndrome
• MECP2 mutation

You may not qualify if:

• no identified MECP2 mutation
• history of drugs that interfere with bone metabolism

Sponsors & Collaborators

• URC-CIC Paris Descartes Necker Cochin: collaborator
• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Kremlin bicêtre

Bicêtre, 94275, France

Location

MeSH Terms

Conditions

Rett Syndrome; Osteoporosis

Interventions

Biomarkers

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Biological Factors

Study Officials

• Agnès Linglart, MD, PhD

  Kremlin Bicêtre hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 2, 2014
• First Posted: April 10, 2014
• Study Start: December 10, 2009
• Primary Completion: June 6, 2014
• Study Completion: June 6, 2014
• Last Updated: April 8, 2026

Record last verified: 2018-03

Locations

FR (1)