Autosomal Dominant Retinitis PigmentosaNCT01235624
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
A study testing genetic analysis in people with Autosomal Dominant Retinitis Pigmentosa, run by University Hospital, Montpellier at 1 site in France.
Trial summary
Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease." Read more about this study
- Who is it for?
- Ages 5 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Autosomal Dominant Retinitis Pigmentosa
- What is being tested?
- genetic analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1,161 participants
- Where
- 1 siteFrance
- Study dates
- Mar 2009to Apr 2013
- 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 80 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- retinitis pigmentosa diagnosed
- Autosomal dominant transmission diagnosed
- Aged from 5 to 80 years
- Informed consent
- Affiliated or benefit from an insurance regimen
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
About this study
Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."
Read the detailed description
Two hundred and fifty samples from unrelated patients, from which 150 were provided by the national reference center of rare disease in Montpellier and 100 recruited in the 9 participating centers over a period of two years."To identify the missing genes, we proceed in two steps. A first step in selecting families negative for the 8 major genes genes, by systematic sequencing of exons most frequently involved. A second step in finding new loci / genes by locus exclusion using microsatellite markers and SNP genotyping.
- Conditions
- Autosomal Dominant Retinitis Pigmentosa
- Being tested
- genetic analysis
- Keywords
- Autosomal dominant retinitis pigmentosa, Rare disease, Genetics
- Medical subject headings
- Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
genetic analysisGenetic
| Study group | Role | What they receive |
|---|---|---|
| patient | Other | Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention) Receives: Genetic: genetic analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP)
Measured: for 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Nov 2010 (estimated)
- Study startMar 2009
- Primary completionApr 2013
- Study completionApr 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Autosomal Dominant Retinitis PigmentosaStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe 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
- 1,161 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Collaborators
- Ministry of Health, France
- Responsible party
- Sponsor
- Investigators
- christian HAMEL, Pr Ph.D, Principal investigator, Institut National de la Santé Et de la Recherche Médicale, FranceJosé-Alain SAHEL, Pr, Study chair, § Centre hospitalier national d'ophtalmologie des XV-XX, Paris,FRANCEJean Louis DUFIER, Pr, Study chair, Hopital Necker enfants-malades,Paris,FRANCEHélène DOLLFUS, Pr, Study chair, CHU de STRASBOURG, FRANCEsylvie ODENT, Pr, Study chair, CHU de RENNES Unité INSERM 598,Paris,FRANCESabine DEFOORT- DHELEMMES, Ph.D, Study chair, CHRU de LILLE,FRANCEMichel WEBER, Pr, Study chair, CHU de NANTES,FRANCEXavier ZANLONGH, Ph.D, Study chair, CLINIQUE SOURDILLE, NANTES,France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01235624
- Sponsor's protocol ID
- UF 8300
- Other IDs
- 2008-A01238-47
- Status last verified
- Nov 2013
- First submitted
- 4 Nov 2010
- Last updated
- 6 Nov 2013
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Audo I, Manes G, Mohand-Said S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17.
PubMed 20164459
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
- ClinicalTrials.gov ID
- NCT01235624
- Acronym / sponsor ID
- UF 8300
- Conditions
- Autosomal Dominant Retinitis Pigmentosa
- Keywords
- Autosomal dominant retinitis pigmentosa, Rare disease, Genetics
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 1,161 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Collaborators
- Ministry of Health, France
- Study start
- Mar 2009
- Primary completion
- Apr 2013 (actual)
- Study completion
- Apr 2013 (actual)
- First posted
- 5 Nov 2010 (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.
Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."
Detailed description
Two hundred and fifty samples from unrelated patients, from which 150 were provided by the national reference center of rare disease in Montpellier and 100 recruited in the 9 participating centers over a period of two years."To identify the missing genes, we proceed in two steps. A first step in selecting families negative for the 8 major genes genes, by systematic sequencing of exons most frequently involved. A second step in finding new loci / genes by locus exclusion using microsatellite markers and SNP genotyping.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patient | Other | Genetic: genetic analysisPatient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention) |
Who may qualify
- Ages
- 5 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- retinitis pigmentosa diagnosed
- Autosomal dominant transmission diagnosed
- Aged from 5 to 80 years
- Informed consent
- Affiliated or benefit from an insurance regimen
Key exclusion criteria (1 listed)
- -
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 |
|---|---|---|
| genetic analysis | Genetic | patient |
Primary outcome
identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP)
Time frame: for 5 years
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 6 Nov 2013.
- Results publication: PubMed 20164459Audo I, Manes G, Mohand-Said S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17.
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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.
christian HAMEL, Pr Ph.D principal investigator
Institut National de la Santé Et de la Recherche Médicale, France
José-Alain SAHEL, Pr study chair
§ Centre hospitalier national d'ophtalmologie des XV-XX, Paris,FRANCE
Jean Louis DUFIER, Pr study chair
Hopital Necker enfants-malades,Paris,FRANCE
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing genetic analysis in people with Autosomal Dominant Retinitis Pigmentosa, run by University Hospital, Montpellier 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 5 inclusion and 1 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 6 Nov 2013. 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?
identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP) (time frame: for 5 years). 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 NCT01235624, which also lists 1 linked publication.
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 6 Nov 2013.