Healthy VolunteerEnBiGenNCT02843997
Endophenotype Characterization of a Family Psychiatric Disorder
A study testing Endophenotype and sequencing in people with Healthy Volunteer, run by University Hospital, Grenoble at 1 site in France.
Trial summary
Bipolar disorder is a chronic and frequent mood pathology, that impacts on emotional and socio-professional life of sick subjects, and also increase mortality by suicide. Suicide is considered as a bipolar disorder result. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Healthy Volunteer
- What is being tested?
- Endophenotype and sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 29 participants
- Where
- 1 siteFrance
- Study dates
- Feb 2015to Feb 2018
- 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Members of a family adult (more than 18 years)
- Signed informed consents
- Registered to a French social security or possesor of the European Health Insurance Card
Who cannot join
- Clinical part :
- Refusal to sign the participation study consent.
- Organic affection likely to affect cognitive abilities and brain structures or acute decompensation of a bipolar disorder.
- Genetic part :
- Refusal to sign the genetic sample consent.
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
UniversityHospitalGrenoble
La Tronche, 38700
Jérôme Holtzmann, Doctor, 04 76 76 54 14, JHoltzmann@chu-grenoble.fr
John Rendu, 04 76 76 55 73, jrendu@chu-grenoble.fr
About this study
Official title: Endophenotype Characterization of a Family Psychiatric Disorder of the Bipolar Spectrum, With an Autosomal Dominant Expression
Bipolar disorder is a chronic and frequent mood pathology, that impacts on emotional and socio-professional life of sick subjects, and also increase mortality by suicide. Suicide is considered as a bipolar disorder result.
The main goal of this study is the endophenotype characterization from a clinical and cognitive point of view, of a bipolar spectrum's disorder present in a family, and then highlight a mutation of one of the genes involved is this disorder.
Read the detailed description
Heritability of bipolar disorder is now well established, but seems to be multifactorial in most of the cases.
The use of an endophenotype characterized in a family presenting numerous bipolar sufferers enable to reflect the expression of simpler genetic variants than those involved in the disease, and might enable the identification of genes involved in the etiopathogenesis of this endophenotype.
- Conditions
- Healthy Volunteer
- Being tested
- Endophenotype and sequencing
- Keywords
- Bipolar disorder, Endophenotype, Family, Autosomal dominant expression, Sequencing, Heritability
- Medical subject headings
- Bipolar Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Endophenotype and sequencingGenetic
Draw an endophenotype and genetic study
| Study group | Role | What they receive |
|---|---|---|
| Healthy volunteers | Other | Members of a family Receives: Genetic: Endophenotype and sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neuropsychological evaluations tests
Neuropsychological evaluations (about one hour) :
TMT (Trail Making Test) A and B, Stroop VFT (Visual Field Testing), DST (Dyslexia Screening Test) Tower of London test Hayling, CPT (continuous performance task) CVLT (California Verbal Learning Test) tests.
Measured: One day
Eye tracking.
The volunteer will follow an instruction according to the color seen on a screen.
This instruction is to look at the side where there is a flashlight and to look at the opopsite if the light is unbroken.
Mistakes will be count.
Measured: One hour
Blood sampling
Genetic sample for extraction of DNA.
Measured: 3 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jul 2016 (estimated)
- Study startFeb 2015
- Primary completionFeb 2018 (estimated)
- Study completionFeb 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (55)Papers the sponsor has linked to this study.
- Other trials for Healthy VolunteerStudies of the same condition, open and under way.
- More trials run by University Hospital, GrenobleThe 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
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 29 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Grenoble
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jérôme Holtzmann, Doctor, Principal investigator, Grenoble Hospital University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02843997
- Sponsor's protocol ID
- 38RC14.321
- Acronym
- EnBiGen
- Status last verified
- Jul 2016
- First submitted
- 11 Jul 2016
- Last updated
- 26 Jul 2016
- Results posted
- No
- Data monitoring committee
- No
Publications
Adida M, Azorin JM, Fakra E, Belzeaux R, Kaladjian A, Pomietto P, Correard N. [Schizophrenia and/or bipolar disorder: neurobiological endophenotypes]. Encephale. 2012 Dec;38 Suppl 3:S98-102. doi: 10.1016/S0013-7006(12)70086-6. French.
PubMed 23279996Ancin I, Santos JL, Teijeira C, Sanchez-Morla EM, Bescos MJ, Argudo I, Torrijos S, Vazquez-Alvarez B, De La Vega I, Lopez-Ibor JJ, Barabash A, Cabranes-Diaz JA. Sustained attention as a potential endophenotype for bipolar disorder. Acta Psychiatr Scand. 2010 Sep;122(3):235-45. doi: 10.1111/j.1600-0447.2009.01532.x. Epub 2010 Jan 25.
PubMed 20105148Badner JA, Koller D, Foroud T, Edenberg H, Nurnberger JI Jr, Zandi PP, Willour VL, McMahon FJ, Potash JB, Hamshere M, Grozeva D, Green E, Kirov G, Jones I, Jones L, Craddock N, Morris D, Segurado R, Gill M, Sadovnick D, Remick R, Keck P, Kelsoe J, Ayub M, MacLean A, Blackwood D, Liu CY, Gershon ES, McMahon W, Lyon GJ, Robinson R, Ross J, Byerley W. Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. Mol Psychiatry. 2012 Jul;17(8):818-26. doi: 10.1038/mp.2011.89. Epub 2011 Jul 19.
PubMed 21769101Bertelsen A, Harvald B, Hauge M. A Danish twin study of manic-depressive disorders. Br J Psychiatry. 1977 Apr;130:330-51. doi: 10.1192/bjp.130.4.330.
PubMed 558030Beynel L, Chauvin A, Guyader N, Harquel S, Szekely D, Bougerol T, Marendaz C. What saccadic eye movements tell us about TMS-induced neuromodulation of the DLPFC and mood changes: a pilot study in bipolar disorders. Front Integr Neurosci. 2014 Aug 19;8:65. doi: 10.3389/fnint.2014.00065. eCollection 2014.
PubMed 25191234Billieux J, Rochat L, Ceschi G, Carre A, Offerlin-Meyer I, Defeldre AC, Khazaal Y, Besche-Richard C, Van der Linden M. Validation of a short French version of the UPPS-P Impulsive Behavior Scale. Compr Psychiatry. 2012 Jul;53(5):609-15. doi: 10.1016/j.comppsych.2011.09.001. Epub 2011 Oct 27.
PubMed 22036009Brent D. In search of endophenotypes for suicidal behavior. Am J Psychiatry. 2009 Oct;166(10):1087-9. doi: 10.1176/appi.ajp.2009.09081131. No abstract available.
PubMed 19797437Cardno AG, Marshall EJ, Coid B, Macdonald AM, Ribchester TR, Davies NJ, Venturi P, Jones LA, Lewis SW, Sham PC, Gottesman II, Farmer AE, McGuffin P, Reveley AM, Murray RM. Heritability estimates for psychotic disorders: the Maudsley twin psychosis series. Arch Gen Psychiatry. 1999 Feb;56(2):162-8. doi: 10.1001/archpsyc.56.2.162.
PubMed 10025441Cermolacce M, Fakra E, Belzeaux R, Adida M, Azorin JM. [Schizophrenic and bipolar endophenotypes: the clinician's point of view]. Encephale. 2012 Dec;38 Suppl 3:S57-61. doi: 10.1016/S0013-7006(12)70078-7. French.
PubMed 23279988Chauvin, A. et al. Saccadic inhibition - A trait biomarker of bipolar disorder. 16th Annual conference of the International Society for Bipolar Disorder (2014).
Chiaroni P, Hantouche EG, Gouvernet J, Azorin JM, Akiskal HS. The cyclothymic temperament in healthy controls and familially at risk individuals for mood disorder: endophenotype for genetic studies? J Affect Disord. 2005 Mar;85(1-2):135-45. doi: 10.1016/j.jad.2003.12.010.
PubMed 15780684Courtet P, Gottesman II, Jollant F, Gould TD. The neuroscience of suicidal behaviors: what can we expect from endophenotype strategies? Transl Psychiatry. 2011;1(5):e7-. doi: 10.1038/tp.2011.6.
PubMed 21761009Daban C, Mathieu F, Raust A, Cochet B, Scott J, Etain B, Leboyer M, Bellivier F. Is processing speed a valid cognitive endophenotype for bipolar disorder? J Affect Disord. 2012 Jun;139(1):98-101. doi: 10.1016/j.jad.2012.02.028. Epub 2012 Mar 18.
PubMed 22429444Drancourt N, Etain B, Lajnef M, Henry C, Raust A, Cochet B, Mathieu F, Gard S, Mbailara K, Zanouy L, Kahn JP, Cohen RF, Wajsbrot-Elgrabli O, Leboyer M, Scott J, Bellivier F. Duration of untreated bipolar disorder: missed opportunities on the long road to optimal treatment. Acta Psychiatr Scand. 2013 Feb;127(2):136-44. doi: 10.1111/j.1600-0447.2012.01917.x. Epub 2012 Aug 20.
PubMed 22901015Duffy A, Lewitzka U, Doucette S, Andreazza A, Grof P. Biological indicators of illness risk in offspring of bipolar parents: targeting the hypothalamic-pituitary-adrenal axis and immune system. Early Interv Psychiatry. 2012 May;6(2):128-37. doi: 10.1111/j.1751-7893.2011.00323.x. Epub 2011 Dec 20.
PubMed 22182213
Study at a glance
From the registry record, last updated by the sponsor on 26 Jul 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Endophenotype Characterization of a Family Psychiatric Disorder of the Bipolar Spectrum, With an Autosomal Dominant Expression
- ClinicalTrials.gov ID
- NCT02843997
- Acronym / sponsor ID
- EnBiGen / 38RC14.321
- Conditions
- Healthy Volunteer
- Keywords
- Bipolar disorder, Endophenotype, Family, Autosomal dominant expression, Sequencing, Heritability
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 29 participants (estimated)
- Lead sponsor
- University Hospital, GrenobleUniversity, hospital or other
- Study start
- Feb 2015
- Primary completion
- Feb 2018 (estimated)
- Study completion
- Feb 2018 (estimated)
- First posted
- 26 Jul 2016 (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.
Bipolar disorder is a chronic and frequent mood pathology, that impacts on emotional and socio-professional life of sick subjects, and also increase mortality by suicide. Suicide is considered as a bipolar disorder result.
The main goal of this study is the endophenotype characterization from a clinical and cognitive point of view, of a bipolar spectrum's disorder present in a family, and then highlight a mutation of one of the genes involved is this disorder.
Detailed description
Heritability of bipolar disorder is now well established, but seems to be multifactorial in most of the cases.
The use of an endophenotype characterized in a family presenting numerous bipolar sufferers enable to reflect the expression of simpler genetic variants than those involved in the disease, and might enable the identification of genes involved in the etiopathogenesis of this endophenotype.
Study design
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Healthy volunteers | Other | Genetic: Endophenotype and sequencingMembers of a family |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Members of a family adult (more than 18 years)
- Signed informed consents
- Registered to a French social security or possesor of the European Health Insurance Card
Key exclusion criteria (5 listed)
- Refusal to sign the participation study consent.
- Organic affection likely to affect cognitive abilities and brain structures or acute decompensation of a bipolar disorder.
- Refusal to sign the genetic sample consent.
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 |
|---|---|---|
| Endophenotype and sequencingDraw an endophenotype and genetic study | Genetic | Healthy volunteers |
Primary outcome
Neuropsychological evaluations tests
Time frame: One day
Neuropsychological evaluations (about one hour) : TMT (Trail Making Test) A and B, Stroop VFT (Visual Field Testing), DST (Dyslexia Screening Test) Tower of London test Hayling, CPT (continuous performance task) CVLT (California Verbal Learning Test) tests.
Eye tracking.
Time frame: One hour
The volunteer will follow an instruction according to the color seen on a screen. This instruction is to look at the side where there is a flashlight and to look at the opopsite if the light is unbroken. Mistakes will be count.
Blood sampling
Time frame: 3 minutes
Genetic sample for extraction of DNA.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jul 2016.
- Background: PubMed 23279996Adida M, Azorin JM, Fakra E, Belzeaux R, Kaladjian A, Pomietto P, Correard N. [Schizophrenia and/or bipolar disorder: neurobiological endophenotypes]. Encephale. 2012 Dec;38 Suppl 3:S98-102. doi: 10.1016/S0013-7006(12)70086-6. French.
- Background: PubMed 20105148Ancin I, Santos JL, Teijeira C, Sanchez-Morla EM, Bescos MJ, Argudo I, Torrijos S, Vazquez-Alvarez B, De La Vega I, Lopez-Ibor JJ, Barabash A, Cabranes-Diaz JA. Sustained attention as a potential endophenotype for bipolar disorder. Acta Psychiatr Scand. 2010 Sep;122(3):235-45. doi: 10.1111/j.1600-0447.2009.01532.x. Epub 2010 Jan 25.
- Background: PubMed 21769101Badner JA, Koller D, Foroud T, Edenberg H, Nurnberger JI Jr, Zandi PP, Willour VL, McMahon FJ, Potash JB, Hamshere M, Grozeva D, Green E, Kirov G, Jones I, Jones L, Craddock N, Morris D, Segurado R, Gill M, Sadovnick D, Remick R, Keck P, Kelsoe J, Ayub M, MacLean A, Blackwood D, Liu CY, Gershon ES, McMahon W, Lyon GJ, Robinson R, Ross J, Byerley W. Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. Mol Psychiatry. 2012 Jul;17(8):818-26. doi: 10.1038/mp.2011.89. Epub 2011 Jul 19.
- Background: PubMed 558030Bertelsen A, Harvald B, Hauge M. A Danish twin study of manic-depressive disorders. Br J Psychiatry. 1977 Apr;130:330-51. doi: 10.1192/bjp.130.4.330.
- Background: PubMed 25191234Beynel L, Chauvin A, Guyader N, Harquel S, Szekely D, Bougerol T, Marendaz C. What saccadic eye movements tell us about TMS-induced neuromodulation of the DLPFC and mood changes: a pilot study in bipolar disorders. Front Integr Neurosci. 2014 Aug 19;8:65. doi: 10.3389/fnint.2014.00065. eCollection 2014.
- Background: PubMed 22036009Billieux J, Rochat L, Ceschi G, Carre A, Offerlin-Meyer I, Defeldre AC, Khazaal Y, Besche-Richard C, Van der Linden M. Validation of a short French version of the UPPS-P Impulsive Behavior Scale. Compr Psychiatry. 2012 Jul;53(5):609-15. doi: 10.1016/j.comppsych.2011.09.001. Epub 2011 Oct 27.
- Background: PubMed 19797437Brent D. In search of endophenotypes for suicidal behavior. Am J Psychiatry. 2009 Oct;166(10):1087-9. doi: 10.1176/appi.ajp.2009.09081131. No abstract available.
- Background: PubMed 10025441Cardno AG, Marshall EJ, Coid B, Macdonald AM, Ribchester TR, Davies NJ, Venturi P, Jones LA, Lewis SW, Sham PC, Gottesman II, Farmer AE, McGuffin P, Reveley AM, Murray RM. Heritability estimates for psychotic disorders: the Maudsley twin psychosis series. Arch Gen Psychiatry. 1999 Feb;56(2):162-8. doi: 10.1001/archpsyc.56.2.162.
- Background: PubMed 23279988Cermolacce M, Fakra E, Belzeaux R, Adida M, Azorin JM. [Schizophrenic and bipolar endophenotypes: the clinician's point of view]. Encephale. 2012 Dec;38 Suppl 3:S57-61. doi: 10.1016/S0013-7006(12)70078-7. French.
- BackgroundChauvin, A. et al. Saccadic inhibition - A trait biomarker of bipolar disorder. 16th Annual conference of the International Society for Bipolar Disorder (2014).
- Background: PubMed 15780684Chiaroni P, Hantouche EG, Gouvernet J, Azorin JM, Akiskal HS. The cyclothymic temperament in healthy controls and familially at risk individuals for mood disorder: endophenotype for genetic studies? J Affect Disord. 2005 Mar;85(1-2):135-45. doi: 10.1016/j.jad.2003.12.010.
- Background: PubMed 21761009Courtet P, Gottesman II, Jollant F, Gould TD. The neuroscience of suicidal behaviors: what can we expect from endophenotype strategies? Transl Psychiatry. 2011;1(5):e7-. doi: 10.1038/tp.2011.6.
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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.
Jérôme Holtzmann, Doctor principal investigator
Grenoble Hospital University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Endophenotype and sequencing in people with Healthy Volunteer, run by University Hospital, Grenoble 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 3 inclusion and 5 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: status not confirmed, as of the sponsor's last update on 26 Jul 2016. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Jérôme Holtzmann, Doctor (04 76 76 54 14, jholtzmann@chu-grenoble.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Neuropsychological evaluations tests (time frame: One day). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02843997, which also lists 55 linked publications.
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 26 Jul 2016.