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CURRENT RETT SYNDROME CLINICAL TRIALS
To learn more about clinical trials please visit the clinicaltrials.gov website
CLINICAL TRIAL SPOTLIGHT
OSTEOPOROSIS IN RETT SYNDROME (OSRETT)
LOCATION:France
COLLABORATORS:Assistance Publique – Hôpitaux de Paris
SUMMARY
Based on our clinical observations, many girls with RETT syndrome, a severe neuro-developmental encephalopathy, suff er 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:
- 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)
- evaluation of the mineral density at the lumber spine using DEXA
- measuring concentrations of osteoprotegerin and RANK-ligand
CLINICALTRIALS.GOV IDENTIFIER:NCT02110797
CONTACT:agnès linglart, M | email: agnes.linglart@inserm.fr
CONTACT:laurence Lecomte, PhD | Tel: 1 71 19 64 94 ext +33 | email: laurence.lecomte@nck.aphp.fr
BELOW IS A LIST OF OTHER CURRENT TRIALS AND STUDIES:
- Pharmacological Treatment of Rett Syndrome with Glatiramer Acetate (Copaxone) Israel
- Study to Assess Safety and E cacy of Fingolimod in Children With Rett Syndrome Switzerland
- Phase 2 Study of EPI-743 in Rett Syndrome
- Treatment of Rett Syndrome With Recombinant Human IGF-1 USA
- A Safety Study of NNZ-2566 in Patients with Rett Syndrome USA
- Pilot Study of the E ects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome France
- Trial of Dextromethorphan in Rett Syndrome USA
- Genetic and Physical Characteristics of Rett Syndrome USA
- Screening for Studies on Autism Spectrum Disorders USA
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