Turner SyndromeCOGNITURNCT01687842
Social Cognition and Turner Syndrome
An observational study of Turner Syndrome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and molecular biologists) to characterize social cognition in adolescents with Turner syndrome (TS). Inclusion criteria: Turner syndrome with homogeneous 45,X karyotype. Age between 8 and 18 years. Read more about this study
- Who is it for?
- Ages 8 to 18 years, women only
- Conditions the study is for
- Turner Syndrome
- What is being tested?
- Evaluation of 45,X Turner syndrome patients
- How many people
- 25 participants
- Where
- 1 siteFrance
- Study dates
- Mar 2013to Mar 2017
- Phase
- Observational
- 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 8 to 18 years
- Women only
- No healthy volunteers
- Child, Adult
Study population: Turner syndrome patients
Who may be able to join
- Turner syndrome with homogeneous 45,X karyotype.
- Age between 8 and 18 years.
- Somatic state compatible with the evaluation.
- Functional language and IQ ≥ 80 for the transfer tests
- Informed consent signed by the holders of parental authority, the patient and the mother for her own participation (DNA collection).
- Affiliation to Social Security (beneficiary or assignee).
Who cannot join
- Additional condition associated with an autism spectrum disorder
- Turner syndrome not related to an homogeneous 45,X karyotype
Trial locations and contacts
1 site in 1 country.
About this study
Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and molecular biologists) to characterize social cognition in adolescents with Turner syndrome (TS).
Inclusion criteria:
Read more
- Turner syndrome with homogeneous 45,X karyotype.
- Age between 8 and 18 years.
- Somatic state compatible with the evaluation.
- Functional language and IQ ≥ 80 for the transfer tests
- Informed consent signed by the holders of parental authority, the patient and the mother for her own participation (DNA collection).
- Affiliation to Social Security (beneficiary or assignee).
The primary endpoint will be the overall score to the AQ (Autism Quotient) questionnaire and to the SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population. For patients with scores above the threshold for SRS or QA validation of a possible diagnosis of autism spectrum disorders will be performed with commonly used diagnostic tools (ADIR (Lord et al, 1994), ADOS-G (Lord et al, 1999) and diagnostic criteria of DSM IV-TR).
Secondary criteria will include the results of standardized tests to assess autistic features (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition, Perception, eXecutive functions).
A DNA sample will be collected from the patient and her mother. The observation period is 2 days for the patient and about 1 hour for the mother. The total duration of the study is 3 years.
Read the detailed description
Patients will be recruited to the study by their pediatric endocrinologist during routine monitoring visits. They will then be contacted by phone or by mail for an appointment with their mother for more oral and written information consisting of an information notice and informed consent form. The recruitment of Turner syndrome patients will be based on the Reference Centre for Rare Endocrine Growth Disorders (AP-HP, Robert Debré, Armand Trousseau and Necker hospitals).
The parental origin of the remaining X chromosome will be analyzed using microsatellite analysis and comparison of the profile of the patient and her mother.
Statistical analysis will be conducted under the supervision of Professor C. ALBERTI using commonly accepted standards. All tests will be bilateral. Given the exploratory nature of the study, a significance threshold of 10% will be used. Statistical analyzes will be performed using SAS software V 9.2.
- Conditions
- Turner Syndrome
- Being tested
- Evaluation of 45,X Turner syndrome patients
- Medical subject headings
- Turner Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Evaluation of 45,X Turner syndrome patientsOther
Evaluation of 45,X Turner syndrome patients
| Study group | Role | What they receive |
|---|---|---|
| Turner syndrome patients | Evaluation of 45,X Turner syndrome patients Receives: Other: Evaluation of 45,X Turner syndrome patients |
What is being measured
The primary outcome is the main question the study is designed to answer.
Overall score to the AQ (Autism Quotient) questionnaire.
Measured: 2 days
SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population.
Measured: 2 days
Secondary outcomes (1)
Socio-cognitive profile and parent of origin of the intact X chromosome
Results of standardized tests to assess autistic features (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition, Perception, eXecutive functions).
Parent of origin of the intact X chromosome and its relationship to the autistic features.
Measured: 2 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Sep 2012 (estimated)
- Study startMar 2013
- Primary completionMar 2017
- Study completionMar 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Turner SyndromeStudies 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
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jean-Claude Carel, PHD, Principal investigator, Assistance Publique - Hôpitaux de ParisDelorme Richard, PHD, Study chair, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01687842
- Sponsor's protocol ID
- P110911
- Other IDs
- ID RCB 2012-A00488-35
- Acronym
- COGNITUR
- Status last verified
- Oct 2016
- First submitted
- 6 Sep 2012
- Last updated
- 18 Nov 2019
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Nov 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Social Cognition and Turner Syndrome
- ClinicalTrials.gov ID
- NCT01687842
- Acronym / sponsor ID
- COGNITUR / P110911
- Conditions
- Turner Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 25 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Mar 2013 (actual)
- Primary completion
- Mar 2017 (actual)
- Study completion
- Mar 2017 (actual)
- First posted
- 19 Sep 2012 (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.
Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and molecular biologists) to characterize social cognition in adolescents with Turner syndrome (TS).
Inclusion criteria:
- Turner syndrome with homogeneous 45,X karyotype.
- Age between 8 and 18 years.
- Somatic state compatible with the evaluation.
- Functional language and IQ ≥ 80 for the transfer tests
- Informed consent signed by the holders of parental authority, the patient and the mother for her own participation (DNA collection).
- Affiliation to Social Security (beneficiary or assignee).
The primary endpoint will be the overall score to the AQ (Autism Quotient) questionnaire and to the SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population. For patients with scores above the threshold for SRS or QA validation of a possible diagnosis of autism spectrum disorders will be performed with commonly used diagnostic tools (ADIR (Lord et al, 1994), ADOS-G (Lord et al, 1999) and diagnostic criteria of DSM IV-TR).
Secondary criteria will include the results of standardized tests to assess autistic features (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition, Perception, eXecutive functions).
A DNA sample will be collected from the patient and her mother. The observation period is 2 days for the patient and about 1 hour for the mother. The total duration of the study is 3 years.
Detailed description
Patients will be recruited to the study by their pediatric endocrinologist during routine monitoring visits. They will then be contacted by phone or by mail for an appointment with their mother for more oral and written information consisting of an information notice and informed consent form. The recruitment of Turner syndrome patients will be based on the Reference Centre for Rare Endocrine Growth Disorders (AP-HP, Robert Debré, Armand Trousseau and Necker hospitals).
The parental origin of the remaining X chromosome will be analyzed using microsatellite analysis and comparison of the profile of the patient and her mother.
Statistical analysis will be conducted under the supervision of Professor C. ALBERTI using commonly accepted standards. All tests will be bilateral. Given the exploratory nature of the study, a significance threshold of 10% will be used. Statistical analyzes will be performed using SAS software V 9.2.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Turner syndrome patients | – | Other: Evaluation of 45,X Turner syndrome patientsEvaluation of 45,X Turner syndrome patients |
Who may qualify
- Ages
- 8 to 18 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Turner syndrome patients
Key inclusion criteria (6 listed)
- Turner syndrome with homogeneous 45,X karyotype.
- Age between 8 and 18 years.
- Somatic state compatible with the evaluation.
- Functional language and IQ ≥ 80 for the transfer tests
- Informed consent signed by the holders of parental authority, the patient and the mother for her own participation (DNA collection).
Key exclusion criteria (2 listed)
- Additional condition associated with an autism spectrum disorder
- Turner syndrome not related to an homogeneous 45,X karyotype
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 |
|---|---|---|
| Evaluation of 45,X Turner syndrome patientsEvaluation of 45,X Turner syndrome patients | Other | Turner syndrome patients |
Primary outcome
Overall score to the AQ (Autism Quotient) questionnaire.
Time frame: 2 days
SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population.
Time frame: 2 days
1 secondary outcome
Socio-cognitive profile and parent of origin of the intact X chromosome
Time frame: 2 days
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 18 Nov 2019.
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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.
Jean-Claude Carel, PHD principal investigator
Assistance Publique - Hôpitaux de Paris
Delorme Richard, PHD study chair
APHP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Turner Syndrome, 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 6 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 18 Nov 2019. 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?
Overall score to the AQ (Autism Quotient) questionnaire. (time frame: 2 days). The study lists 2 primary outcomes in all. 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 18 Nov 2019.