Inherited Retinal Dystrophy Primarily Involving Sensory RetinaNCT03613948
Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
An observational study of Inherited Retinal Dystrophy Primarily Involving Sensory Retina and Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium, run by Gangnam Severance Hospital at 1 site in South Korea.
Trial summary
To develop comprehensive genetic maps of inherited retinal diseases in Korean Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype correlations, and visual prognosis." Read more about this study
- Who is it for?
- Ages 4 months to 75 years
- Conditions the study is for
- Inherited Retinal Dystrophy Primarily Involving Sensory Retina, Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
- How many people
- 280 participants
- Where
- 1 siteSouth Korea
- Study dates
- 10 Apr 2018to 20 Jan 2021
- 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 4 months to 75 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: "Subject with inherited retinal disease, age between 6 months and 75 years who have not receive molecular genetic testing"
Who may be able to join
- Inherited retinal disease
- Age between 4 months and 75 years
- Subject who has clinically confirmed visual impairment including night blindness or photophobia. Subject should meet one of the following criteria
- pigmentary retinopathy in both eyes
- reduced response in photopic or scotopic electroretinogram in both eyes
- photoreceptor degeneration in optical coherence tomography in both eyes
Who cannot join
- unilateral retinal disease
- Subject who had previously confirmed genetic testing
- Age less than 4 months or more than 75 years
- When congenital infection or trauma are suspicious for the cause of retinal disease
- When age-related macular degeneration, myopic degeneration, autoimmune origin are suspicious for the cause of retinal disease
- No visual impairment or normal electroretinogram (e.g., benign fleck)
- Illiterate subject who can not understand informed consent
- Foreigners
Trial locations and contacts
1 site in 1 country.
About this study
To develop comprehensive genetic maps of inherited retinal diseases in Korean
- Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype correlations, and visual prognosis."
Read the detailed description
Group/ Cohort Label : Subject with age between 6 months and 65 years who have not receive molecular genetic testing Group / Cohort Description : Consecutive subjects with inherited retinal disease who are willing to do genetic testing using whole exome sequencing (n=265) and whole genome sequencing (n=15) and agree to informed consent of the study
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease
patients were grouped in 1) probable molecular diagnosis: patients with pathogenic or likely pathogenic disease-associated variant(s), 2) possible molecular diagnosis: patients with 2 heterozygous mutations without segregation analysis, or patients harboring a single pathogenic or likely pathogenic disease-associated variant in a gene linked with recessive traits, provided the patient phenotype matches the known spectrum of clinical features for this gene, 3) unsolved: all other patients for which no pathogenic or likely pathogenic disease-associated variants were detected.
Measured: 3 years (until December 31, 2020)
Secondary outcomes (1)
Diagnostic rate of whole genome sequencing (n=15) in Koreans with inherited retinal disease
patients were grouped in 1) probable molecular diagnosis: patients with pathogenic or likely pathogenic disease-associated variant(s), 2) possible molecular diagnosis: patients with 2 heterozygous mutations without segregation analysis, or patients harboring a single pathogenic or likely pathogenic disease-associated variant in a gene linked with recessive traits, provided the patient phenotype matches the known spectrum of clinical features for this gene, 3) unsolved: all other patients for which no pathogenic or likely pathogenic disease-associated variants were detected.
Measured: 3 years (until December 31, 2020)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Aug 2018
- Study start10 Apr 2018
- Primary completion20 Jan 2021
- Study completion20 Jan 2021
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 Inherited Retinal Dystrophy Primarily Involving Sensory RetinaStudies 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
- 280 participants (actual)
Sponsor and investigators
- Lead sponsor
- Gangnam Severance Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jinu Han, Gangnam Severance Hospital
- Investigators
- Jinu Han, Principal investigator, Gangnam Severance Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03613948
- Sponsor's protocol ID
- 3-2018-0026
- Status last verified
- Oct 2021
- First submitted
- 10 Apr 2018
- Last updated
- 25 Oct 2021
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.
PubMed 28559085
Study at a glance
From the registry record, last updated by the sponsor on 25 Oct 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
- ClinicalTrials.gov ID
- NCT03613948
- Acronym / sponsor ID
- 3-2018-0026
- Conditions
- Inherited Retinal Dystrophy Primarily Involving Sensory Retina, Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 280 participants (actual)
- Lead sponsor
- Gangnam Severance HospitalUniversity, hospital or other
- Study start
- 10 Apr 2018 (actual)
- Primary completion
- 20 Jan 2021 (actual)
- Study completion
- 20 Jan 2021 (actual)
- First posted
- 3 Aug 2018 (actual)
- 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.
To develop comprehensive genetic maps of inherited retinal diseases in Korean
- Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype correlations, and visual prognosis."
Detailed description
Group/ Cohort Label : Subject with age between 6 months and 65 years who have not receive molecular genetic testing Group / Cohort Description : Consecutive subjects with inherited retinal disease who are willing to do genetic testing using whole exome sequencing (n=265) and whole genome sequencing (n=15) and agree to informed consent of the study
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 4 months to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- "Subject with inherited retinal disease, age between 6 months and 75 years who have not receive molecular genetic testing"
Key inclusion criteria (6 listed)
- Inherited retinal disease
- Age between 4 months and 75 years
- Subject who has clinically confirmed visual impairment including night blindness or photophobia. Subject should meet one of the following criteria
- pigmentary retinopathy in both eyes
- reduced response in photopic or scotopic electroretinogram in both eyes
Key exclusion criteria (8 listed)
- unilateral retinal disease
- Subject who had previously confirmed genetic testing
- Age less than 4 months or more than 75 years
- When congenital infection or trauma are suspicious for the cause of retinal disease
- When age-related macular degeneration, myopic degeneration, autoimmune origin are suspicious for the cause of retinal disease
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
Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease
Time frame: 3 years (until December 31, 2020)
patients were grouped in 1) probable molecular diagnosis: patients with pathogenic or likely pathogenic disease-associated variant(s), 2) possible molecular diagnosis: patients with 2 heterozygous mutations without segregation analysis, or patients harboring a single pathogenic or likely pathogenic disease-associated variant in a gene linked with recessive traits, provided the patient phenotype matches the known spectrum of clinical features for this gene, 3) unsolved: all other patients for which no pathogenic or likely pathogenic disease-associated variants were detected.
1 secondary outcome
Diagnostic rate of whole genome sequencing (n=15) in Koreans with inherited retinal disease
Time frame: 3 years (until December 31, 2020)
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 25 Oct 2021.
- Results publication: PubMed 28559085Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.
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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.
Jinu Han principal investigator
Gangnam Severance Hospital
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 Inherited Retinal Dystrophy Primarily Involving Sensory Retina and Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium, run by Gangnam Severance Hospital at 1 site in South Korea.
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 6 inclusion and 8 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 25 Oct 2021. 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 South Korea. 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?
Diagnostic rate of whole exome sequencing (n=265) in Koreans with inherited retinal disease (time frame: 3 years (until December 31, 2020)). 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 NCT03613948, 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 25 Oct 2021.