RETT Syndrome With Proven MECP2 MutationOSRETTNCT02110797
Osteoporosis in RETT Syndrome
A study testing biological markers and evaluation of the mineral density at the lumber spine using DEXA in people with RETT Syndrome With Proven MECP2 Mutation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 to 45 years, women only
- Conditions the study is for
- RETT Syndrome With Proven MECP2 Mutation
- What is being tested?
- biological markers and evaluation of the mineral density at the lumber spine using DEXA
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 98 participants
- Where
- 1 siteFrance
- Study dates
- 10 Dec 2009to 6 Jun 2014
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 45 years
- Women only
- No healthy volunteers
- Child, Adult
Who may be able to join
- RETT syndrome
- MECP2 mutation
Who cannot join
- no identified MECP2 mutation
- history of drugs that interfere with bone metabolism
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Osteoporosis in RETT Syndrome. Understanding the Mechanisms and Identification of Biomarkers.
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:
- 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
Read the 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:
- 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)
- evaluation of the mineral density at the lumber spine using DEXA
- measuring concentrations of osteoprotegerin and RANK-ligand
- Conditions
- RETT Syndrome With Proven MECP2 Mutation
- Being tested
- biological markers and evaluation of the mineral density at the lumber spine using DEXA
- Keywords
- RETT syndrome, MECP2, Osteoporosis, RANK-ligand, osteoprotegerin
- Medical subject headings
- Rett Syndrome, Osteoporosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
biological markers and evaluation of the mineral density at the lumber spine using DEXAOther
| Study group | Role | What they receive |
|---|---|---|
| RETT patients | Other | Not described Receives: Other: biological markers and evaluation of the mineral density at the lumber spine using DEXA |
What is being measured
The primary outcome is the main question the study is designed to answer.
osteoporosis in RETT patients
Correlation between clinical/biological risk factors and mineral density and osteoporosis in RETT patients
Measured: Day 0
Secondary outcomes (1)
Biological Mechanisms of osteoporosis
RANK-ligand and osteoprotegerin concentrations
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2014 (estimated)
- Study start10 Dec 2009
- Primary completion6 Jun 2014
- Study completion6 Jun 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for RETT Syndrome With Proven MECP2 MutationStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 98 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Agnès Linglart, MD, PhD, Principal investigator, Kremlin Bicêtre hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02110797
- Sponsor's protocol ID
- P071230
- Acronym
- OSRETT
- Status last verified
- Mar 2018
- First submitted
- 2 Apr 2014
- Last updated
- 8 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Osteoporosis in RETT Syndrome. Understanding the Mechanisms and Identification of Biomarkers.
- ClinicalTrials.gov ID
- NCT02110797
- Acronym / sponsor ID
- OSRETT / P071230
- Conditions
- RETT Syndrome With Proven MECP2 Mutation
- Keywords
- RETT syndrome, MECP2, Osteoporosis, RANK-ligand, osteoprotegerin
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 98 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 10 Dec 2009 (actual)
- Primary completion
- 6 Jun 2014 (actual)
- Study completion
- 6 Jun 2014 (actual)
- First posted
- 10 Apr 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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
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:
- 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)
- evaluation of the mineral density at the lumber spine using DEXA
- measuring concentrations of osteoprotegerin and RANK-ligand
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| RETT patients | Other | Other: biological markers and evaluation of the mineral density at the lumber spine using DEXA |
Who may qualify
- Ages
- 5 to 45 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (2 listed)
- RETT syndrome
- MECP2 mutation
Key exclusion criteria (2 listed)
- no identified MECP2 mutation
- history of drugs that interfere with bone metabolism
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| biological markers and evaluation of the mineral density at the lumber spine using DEXA | Other | RETT patients |
Primary outcome
osteoporosis in RETT patients
Time frame: Day 0
Correlation between clinical/biological risk factors and mineral density and osteoporosis in RETT patients
1 secondary outcome
Biological Mechanisms of osteoporosis
Time frame: Day 0
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Agnès Linglart, MD, PhD principal investigator
Kremlin Bicêtre hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing biological markers and evaluation of the mineral density at the lumber spine using DEXA in people with RETT Syndrome With Proven MECP2 Mutation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
osteoporosis in RETT patients (time frame: Day 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Apr 2026.