Retinitis PigmentosaRP-SEQ-HDNCT02860520
Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing.
An observational study of Retinitis Pigmentosa, run by University Hospital, Strasbourg, France at 4 sites in France.
Trial summary
The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics. Read more about this study
- Who is it for?
- Ages 2 years and olderHealthy volunteers can take part
- Conditions the study is for
- Retinitis Pigmentosa
- How many people
- 500 participants
- Where
- 4 sitesFrance
- Study dates
- 3 Nov 2015to Aug 2025
- 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 2 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with an RP and/or having a family history of RP
Who may be able to join
- Subject of both sex, aged at least 2 years, being diagnosed with an RP, and/or having a family history of RP
- Informed about the results of the preliminary medical visit, or which (s) holder (s) parental authority or the guardian / curator has (have) was (been) informed
- Informed consent signed
- Affiliation to the French health system
Who cannot join
- The patient does not want to participate to the protocol
- Intercurrent diseases do not allow the practice of tests provided for this protocol
- Phenocopy
- Subject excluded or being excluded by another protocol
- Subject in emergency case
- Subject under judicial protection
Trial locations and contacts
4 sites in 1 country.
France4 sites, 4 recruiting
- Not yet recruiting
Service d'Ophtalmologie CHU Hôpital Général
Dijon, 21000
Catherine CREUZOT-GARCHER, MD, 33.3.80.29.37.56, catherine.creuzot-garcher@chu-dijon.fr
Catherine CREUZOT-GARCHER, MD
- Not yet recruiting
Service d'Ophtalmologie, Hôpital Robert Debré, CHR
Reims, 51092
Carl ARNDT, MD, 33.3.26.78.77.20, prarndt@gmail.com
Carl ARNDT, MD
- Recruiting
Affections Rares en Génétique Ophtalmologique (CARGO) Hôpital Civil, Hôpitaux Universitaires de Strasbourg
Strasbourg, 67091
Hélène DOLLFUS, MD, 33.3.88.11.67.53, helene.dollfus@chru-strasbourg.fr
Jean MULLER, PHD, 03.69.55.11.66, jean.muller@chru-strasbourg.fr
- Not yet recruiting
Service d'Ophtalmologie, CHU BRABOIS
Vandœuvre-lès-Nancy, 54500
Karine ANGIOI-DUPREZ, MD, 33.3.15.30.39, k.angioi-duprez@chu-nancy.fr
Karine ANGIOI-DUPREZ, MD
About this study
Official title: Clinical Implication of the Molecular Diagnostic Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing (RP-SEQ-HD)
The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics. These rare diseases are characterized by a triple heterogeneity (clinical, genetic and molecular), which made them unreachable by traditional molecular diagnostic sequencing technology by the large number of genes to be tested (> 190).
The advent of high-throughput sequencing (NGS) and targeted capture has opened unexpected possibilities of investigation and ultimately to improve the care of patients. This project aims to study the genetic and molecular epidemiology of an interregional french (grand EST) cohort of patients. Patients receive a detailed retinal phenotype (visual acuity, visual field, photographs of the fundus and ERG). Their DNA will be analyzed by NGS targets the 190 known genes (https://sph.uth.edu/retnet/).
Read more
This research will provide a molecular epidemiological cohort study compared to prior publications on the frequency of genes involved. The benefit for patients is important to: establish a mode of transmission of the disease and optimize genetic counseling (currently very empirical); establish phenotype-genotype correlations in the French population (very few studies to date) and from the data of international literature; identify patients likely to be included in future therapeutic protocols of research; identify patients with significant potential for future projects to identify new genes.
The primary purpose of the protocol is to use high throughput sequencing to identify pathogenic variants in genes involved in RP.
The secondary purposes will be the following:
- Determining the diagnostic yield
- Study the genotype-phenotype correlation.
The secondary purposes will be the following:
- Determining the diagnostic yield
- Study the genotype-phenotype correlation
- Conditions
- Retinitis Pigmentosa
- Keywords
- Retinitis pigmentosa:
- Medical subject headings
- Retinitis Pigmentosa
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients with a deleterious mutation
Measured: 18 months
Secondary outcomes (2)
Percentage of positive diagnostic
Measured: 18 months
Number of gene with a genotype-phenotype correlation
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Aug 2016 (estimated)
- Study start3 Nov 2015
- Primary completionAug 2025 (estimated)
- Study completionAug 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinitis PigmentosaStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Hélène DOLLFUS, MD, Principal investigator, Hôpitaux Universitaires de Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02860520
- Sponsor's protocol ID
- 5724
- Acronym
- RP-SEQ-HD
- Status last verified
- Apr 2022
- First submitted
- 1 Aug 2016
- Last updated
- 20 Apr 2022
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Implication of the Molecular Diagnostic Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing (RP-SEQ-HD)
- ClinicalTrials.gov ID
- NCT02860520
- Acronym / sponsor ID
- RP-SEQ-HD / 5724
- Conditions
- Retinitis Pigmentosa
- Keywords
- Retinitis pigmentosa:
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 3 Nov 2015 (actual)
- Primary completion
- Aug 2025 (estimated)
- Study completion
- Aug 2025 (estimated)
- First posted
- 9 Aug 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.
The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics. These rare diseases are characterized by a triple heterogeneity (clinical, genetic and molecular), which made them unreachable by traditional molecular diagnostic sequencing technology by the large number of genes to be tested (> 190).
The advent of high-throughput sequencing (NGS) and targeted capture has opened unexpected possibilities of investigation and ultimately to improve the care of patients. This project aims to study the genetic and molecular epidemiology of an interregional french (grand EST) cohort of patients. Patients receive a detailed retinal phenotype (visual acuity, visual field, photographs of the fundus and ERG). Their DNA will be analyzed by NGS targets the 190 known genes (https://sph.uth.edu/retnet/).
This research will provide a molecular epidemiological cohort study compared to prior publications on the frequency of genes involved. The benefit for patients is important to: establish a mode of transmission of the disease and optimize genetic counseling (currently very empirical); establish phenotype-genotype correlations in the French population (very few studies to date) and from the data of international literature; identify patients likely to be included in future therapeutic protocols of research; identify patients with significant potential for future projects to identify new genes.
The primary purpose of the protocol is to use high throughput sequencing to identify pathogenic variants in genes involved in RP.
The secondary purposes will be the following:
- Determining the diagnostic yield
- Study the genotype-phenotype correlation.
The secondary purposes will be the following:
- Determining the diagnostic yield
- Study the genotype-phenotype correlation
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with an RP and/or having a family history of RP
Key inclusion criteria (4 listed)
- Subject of both sex, aged at least 2 years, being diagnosed with an RP, and/or having a family history of RP
- Informed about the results of the preliminary medical visit, or which (s) holder (s) parental authority or the guardian / curator has (have) was (been) informed
- Informed consent signed
- Affiliation to the French health system
Key exclusion criteria (6 listed)
- The patient does not want to participate to the protocol
- Intercurrent diseases do not allow the practice of tests provided for this protocol
- Phenocopy
- Subject excluded or being excluded by another protocol
- Subject in emergency case
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of patients with a deleterious mutation
Time frame: 18 months
2 secondary outcomes
Percentage of positive diagnostic
Time frame: 18 months
Number of gene with a genotype-phenotype correlation
Time frame: 18 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Apr 2022.
- Individual participant dataSharing planned: No
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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.
Hélène DOLLFUS, MD principal investigator
Hôpitaux Universitaires de Strasbourg
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinitis Pigmentosa, run by University Hospital, Strasbourg, France at 4 sites 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 4 inclusion and 6 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 20 Apr 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites 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 Hélène DOLLFUS, MD (33.3.88.12.81.19, helene.dollfus@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients with a deleterious mutation (time frame: 18 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 20 Apr 2022.