Retinitis PigmentosaNCT02309866
Identifying Genes and Mutations Underlying Retinitis Pigmentosa and Allied Diseases
An observational study of Retinitis Pigmentosa, run by Hillel Yaffe Medical Center.
Trial summary
Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1:3500. It is one of the most genetically heterogenous conditions in humans, with over 100 causative genes and loci reported to date. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Retinitis Pigmentosa
- What is being tested?
- Genetic testing
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- Jan 2015to Jan 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study will be composed of Israeli individuals who have been clinically diagnosed with RP but do not have a confirmed diagnosis by genetic testing.
Who may be able to join
- Patients with RP in which the genetic cause has not been identified yet and their healthy family members
Who cannot join
- Patients with RP in which the genetic cause has already been identified
About this study
Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1:3500. It is one of the most genetically heterogenous conditions in humans, with over 100 causative genes and loci reported to date. However, in approximately 40% of patients the underlying genetic causes are yet to be found.
The current study aims to identify causative RP genes and mutations in Israeli families of various ethnic backgrounds. Identification of such genes will contribute significantly to disease prevention (by identification of high risk families and appropriate genetic counseling) and to the investigators understanding of retinal structure and function and of the etiology of RP.
Read the detailed description
Background: Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disease, which causes visual loss due to the premature death of retinal photoreceptors. Over 100 genes and loci have been implicated in RP. However, the contribution of each of these genes to the overall prevalence of RP is relatively small, and many of them are yet to be found. These unidentified genes are likely to be very rare. The vast majority of studies on the genetics of RP have been performed on the American and European populations. Based on the investigators experience, the genetic makeup of the Israeli population is unique, and many of the genetic alterations identified in Israeli patients are novel.
Working hypothesis and aims: the investigators working hypothesis is that the Israeli population is unique in terms of the identity and relative contribution of RP genes. Therefore, the investigators aim is to perform a comprehensive genetic analysis of affected Israeli individuals of various ethnic backgrounds, in order to identify novel RP mutations and genes.
Methods: RP patients and family members will be continuously recruited to the study through the Ophthalmology Department at Hillel Yaffe Medical Center, Hadera, Israel. The relatively high proportion of founder mutations in the Israeli population allows us to perform a quick and efficient mutation screening and identify the cause of disease in a large number of newly recruited families. Patients who are negative for all relevant mutations will be studied using whole exome sequencing. Bioinformatic analysis will be used to identify possible pathogenic variants. Following verification, the investigators will check their co-segregation with the disease in the entire family, and their frequency in the relevant population.
Expected results: The immediate expected outcomes include an epidemiological overview of RP distribution and etiology in the Israeli population, and identification of novel causative genes and mechanisms. These genes are expected to play a crucial role in retinal development and function, and hence their identification and characterization will contribute significantly to the investigators understanding of retinal structure and function and of the etiology of RP. The main expected long-term outcome is reduction in the frequency of RP in Israel. This will be achieved by a combination of prevention (by genetic screening and counseling among high-risk populations), and treatment (by identification of patient groups with shared genetic diagnoses, who can be recruited to clinical trials for evaluation of various treatment strategies).
- Conditions
- Retinitis Pigmentosa
- Being tested
- Genetic testing
- Medical subject headings
- Retinitis Pigmentosa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic testingGenetic
Genetic testing for mutations in known and novel genes underlying RP and allied diseases
| Study group | Role | What they receive |
|---|---|---|
| Genetic Testing | All participants determined eligible for the study will be placed into genetic testing arm. Receives: Genetic: Genetic testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percent of patients in whom common founder mutations in known RP-related gene are found
Measured: 4 years
Percent of patients in whom mutations in novel RP-related genes are found
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Dec 2014 (estimated)
- Study startJan 2015
- Primary completionJan 2017 (estimated)
- Study completionJan 2018 (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.
- 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hillel Yaffe Medical Center
- Sponsor type
- Other government
- Collaborators
- Technion, Israel Institute of Technology
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02309866
- Sponsor's protocol ID
- 83-13
- Status last verified
- Nov 2014
- First submitted
- 24 Nov 2014
- Last updated
- 5 Dec 2014
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Dec 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identifying Genes and Mutations Underlying Retinitis Pigmentosa and Allied Diseases
- ClinicalTrials.gov ID
- NCT02309866
- Acronym / sponsor ID
- 83-13
- Conditions
- Retinitis Pigmentosa
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Hillel Yaffe Medical CenterOther government
- Collaborators
- Technion, Israel Institute of Technology
- Study start
- Jan 2015
- Primary completion
- Jan 2017 (estimated)
- Study completion
- Jan 2018 (estimated)
- First posted
- 5 Dec 2014 (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.
Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1:3500. It is one of the most genetically heterogenous conditions in humans, with over 100 causative genes and loci reported to date. However, in approximately 40% of patients the underlying genetic causes are yet to be found.
The current study aims to identify causative RP genes and mutations in Israeli families of various ethnic backgrounds. Identification of such genes will contribute significantly to disease prevention (by identification of high risk families and appropriate genetic counseling) and to the investigators understanding of retinal structure and function and of the etiology of RP.
Detailed description
Background: Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disease, which causes visual loss due to the premature death of retinal photoreceptors. Over 100 genes and loci have been implicated in RP. However, the contribution of each of these genes to the overall prevalence of RP is relatively small, and many of them are yet to be found. These unidentified genes are likely to be very rare. The vast majority of studies on the genetics of RP have been performed on the American and European populations. Based on the investigators experience, the genetic makeup of the Israeli population is unique, and many of the genetic alterations identified in Israeli patients are novel.
Working hypothesis and aims: the investigators working hypothesis is that the Israeli population is unique in terms of the identity and relative contribution of RP genes. Therefore, the investigators aim is to perform a comprehensive genetic analysis of affected Israeli individuals of various ethnic backgrounds, in order to identify novel RP mutations and genes.
Methods: RP patients and family members will be continuously recruited to the study through the Ophthalmology Department at Hillel Yaffe Medical Center, Hadera, Israel. The relatively high proportion of founder mutations in the Israeli population allows us to perform a quick and efficient mutation screening and identify the cause of disease in a large number of newly recruited families. Patients who are negative for all relevant mutations will be studied using whole exome sequencing. Bioinformatic analysis will be used to identify possible pathogenic variants. Following verification, the investigators will check their co-segregation with the disease in the entire family, and their frequency in the relevant population.
Expected results: The immediate expected outcomes include an epidemiological overview of RP distribution and etiology in the Israeli population, and identification of novel causative genes and mechanisms. These genes are expected to play a crucial role in retinal development and function, and hence their identification and characterization will contribute significantly to the investigators understanding of retinal structure and function and of the etiology of RP. The main expected long-term outcome is reduction in the frequency of RP in Israel. This will be achieved by a combination of prevention (by genetic screening and counseling among high-risk populations), and treatment (by identification of patient groups with shared genetic diagnoses, who can be recruited to clinical trials for evaluation of various treatment strategies).
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genetic Testing | – | Genetic: Genetic testingAll participants determined eligible for the study will be placed into genetic testing arm. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study will be composed of Israeli individuals who have been clinically diagnosed with RP but do not have a confirmed diagnosis by genetic testing.
Key inclusion criteria (1 listed)
- Patients with RP in which the genetic cause has not been identified yet and their healthy family members
Key exclusion criteria (1 listed)
- Patients with RP in which the genetic cause has already been identified
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 testingGenetic testing for mutations in known and novel genes underlying RP and allied diseases | Genetic | Genetic Testing |
Primary outcome
Percent of patients in whom common founder mutations in known RP-related gene are found
Time frame: 4 years
Percent of patients in whom mutations in novel RP-related genes are found
Time frame: 4 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Dec 2014.
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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.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinitis Pigmentosa, run by Hillel Yaffe Medical Center.
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 1 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: status not confirmed, as of the sponsor's last update on 5 Dec 2014. Status can change between updates, so confirm with the study contact before making plans.
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?
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?
Percent of patients in whom common founder mutations in known RP-related gene are found (time frame: 4 years). 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 5 Dec 2014.