Neurosensory DiseasesGEN-NEUROSENSNCT02558478
Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing
An observational study of Neurosensory Diseases and Retinopathy, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date. Read more about this study
- Who is it for?
- Ages 28 days to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- Neurosensory Diseases, Retinopathy, Hearing Loss
- What is being tested?
- blood sampling
- How many people
- 39 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2015to Sep 2018
- 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 28 days to 65 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: This project focuses on families with unsual phenotypes who have sensorineural disease with retinal degeneration AND/OR deafness. Our first hypothesis is that these clinical entities are associated with new genes not described to date. However, it is impossible to exclude at this stage an allelic variability (mutations in genes already known but with an unusual phenotype) or mutations in genes implicated in neurosensory diseases but not detected by prior exploration. These situations illustrate the problem of genetic complexity and difficulty of the phenotype correlations - genotype.
Who may be able to join
- Original phenotype with neurosensory diseases
- Written, informed consent obtained
Who cannot join
- Refusal to participate at the study
- Prior inclusion in a similar study (NGS)
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
LABORATOIRE DE CYTOGENETIQUE, Hôpitaux Universitaires de Strasbourg
Strasbourg, 67091
Sophie SCHEIDECKER, MD, 33.3.88.12.73.33, sophie.scheidecker@chru-strasbourg.fr
Sophie SCHEIDECKER, MD
About this study
Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date. The aim of this project is based on groups of patients with original clinical phenotypes including neurosensory impairment without genetic cause identified to date. The investigators will study these families using whole exome sequencing to potentially identify new genes and new underlying biological pathways involved in neurosensory diseases.
- Conditions
- Neurosensory Diseases, Retinopathy, Hearing Loss
- Being tested
- blood sampling
- Keywords
- Whole exome sequencing
- Medical subject headings
- Retinal Diseases, Hearing Loss
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood samplingGenetic
What is being measured
The primary outcome is the main question the study is designed to answer.
Whole exome sequencing data
Measured: 21 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Sep 2015 (estimated)
- Study startSep 2015
- Primary completionSep 2018 (estimated)
- Study completionSep 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurosensory DiseasesStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe 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
- Enrolment
- 39 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sophie SCHEIDECKER, MD, Principal investigator, Hôpitaux Universitaires de Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02558478
- Sponsor's protocol ID
- 5885
- Acronym
- GEN-NEUROSENS
- Status last verified
- Dec 2016
- First submitted
- 11 Sep 2015
- Last updated
- 7 Dec 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Dec 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing
- ClinicalTrials.gov ID
- NCT02558478
- Acronym / sponsor ID
- GEN-NEUROSENS / 5885
- Conditions
- Neurosensory Diseases, Retinopathy, Hearing Loss
- Keywords
- Whole exome sequencing
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 39 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- Sep 2015
- Primary completion
- Sep 2018 (estimated)
- Study completion
- Sep 2018 (estimated)
- First posted
- 24 Sep 2015 (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.
Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date. The aim of this project is based on groups of patients with original clinical phenotypes including neurosensory impairment without genetic cause identified to date. The investigators will study these families using whole exome sequencing to potentially identify new genes and new underlying biological pathways involved in neurosensory diseases.
Study design
- Observational model
- Family based
Who may qualify
- Ages
- 28 days to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This project focuses on families with unsual phenotypes who have sensorineural disease with retinal degeneration AND/OR deafness. Our first hypothesis is that these clinical entities are associated with new genes not described to date. However, it is impossible to exclude at this stage an allelic variability (mutations in genes already known but with an unusual phenotype) or mutations in genes implicated in neurosensory diseases but not detected by prior exploration. These situations illustrate the problem of genetic complexity and difficulty of the phenotype correlations - genotype.
Key inclusion criteria (2 listed)
- Original phenotype with neurosensory diseases
- Written, informed consent obtained
Key exclusion criteria (2 listed)
- Refusal to participate at the study
- Prior inclusion in a similar study (NGS)
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 |
|---|---|---|
| blood sampling | Genetic | – |
Primary outcome
Whole exome sequencing data
Time frame: 21 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Dec 2016.
Related trials for Neurosensory Diseases
Recruiting
A Neurosensory Account of Anxiety and Stress (Study 2)
Threat-related Sensory Cortical (SC) Disinhibition, Posttraumatic Stress Disorder (PTSD)
Not yet recruiting
Sensory Stimulation Program Delivered by Family Members of Brain-injured Patients in Critical Care: Effect on Relatives' Post-traumatic Stress
Stress Disorder, Post-traumatic
Recruiting
Passive Neurosensory Reintegration Training as a Tool to Augment Mild Traumatic Brain Injury
Mild Traumatic Brain Injury
Recruiting
A Neurosensory Account of Anxiety and Stress (Study 1)
Posttraumatic Stress Disorder (PTSD), Intrinsic and Novelty-related Sensory Cortical (SC) Disinhibition
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.
Sophie SCHEIDECKER, MD principal investigator
Hôpitaux Universitaires de Strasbourg
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 Neurosensory Diseases and Retinopathy, run by University Hospital, Strasbourg, France 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: status not confirmed, as of the sponsor's last update on 7 Dec 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 Sophie SCHEIDECKER, MD (33.3.88.12.73.33, SOPHIE.scheidecker@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Whole exome sequencing data (time frame: 21 months). 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 7 Dec 2016.