Retinoblastoma BilateralNCT06725173
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
An observational study of Retinoblastoma Bilateral and Retinoblastoma Unilateral, run by University of Washington at 1 site in United States.
Trial summary
The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular
- What is being tested?
- Targeted Long-read sequencing
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 16 Mar 2026to 1 Jan 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: patients with presumed or genetically confirmed retinoblastoma
Who may be able to join
- Patients with molecularly proven retinoblastoma due to RB1 or a typical clinical retinoblastoma phenotype with genetic screening pending.
- Able to give consent/parent or guardian able to give consent.
Who cannot join
- Patients unable or unwilling to undertake consent or clinical testing.
- Patients unwilling to donate a saliva or blood sample in order to establish the genetic cause of their condition.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Washington
Seattle, Washington, 98109
Debarshi Mustafi, MD PhD, 206-221-2029
Debarshi Mustafi, MD PhD
About this study
Official title: Genetic Associations of Ocular Cancers
The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.
- Conditions
- Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent, Retinoblastoma
- Being tested
- Targeted Long-read sequencing
- Keywords
- retinoblastoma, parent-of-origin
- Medical subject headings
- Retinoblastoma, Recurrence
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Targeted Long-read sequencingGenetic
Also called Long-read sequencing
All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene
| Study group | Role | What they receive |
|---|---|---|
| Patients with presumed germline retinoblastoma due to RB1 mutation | Not described Receives: Genetic: Targeted Long-read sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Epigenomic and genomic profiling of the RB1 gene
Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2024
- Study start16 Mar 2026 (estimated)
- Primary completion1 Jan 2030 (estimated)
- Study completion1 Jan 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Retinoblastoma BilateralStudies of the same condition, open and under way.
- More trials run by University of WashingtonThe 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
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Washington
- Sponsor type
- University, hospital or other
- Collaborators
- National Eye Institute (NEI)
- Responsible party
- Principal investigator, Debarshi Mustafi, University of Washington
- Investigators
- Debarshi Mustafi, MD PhD, Principal investigator, University of WashingtonAndrew W Stacey, MD, Principal investigator, University of Washington
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06725173
- Sponsor's protocol ID
- STUDY00021737
- Other IDs
- K08EY033789
- Status last verified
- Mar 2026
- First submitted
- 5 Dec 2024
- Last updated
- 18 Mar 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Stacey AW, Nakamichi K, Huey J, Stevens J, Waligorski N, Crotty EE, Van Gelder RN, Mustafi D. Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma. JCI Insight. 2024 Dec 26;10(4):e188216. doi: 10.1172/jci.insight.188216.
PubMed 39724000Nakamichi K, Stacey A, Mustafi D. Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma. Ophthalmic Genet. 2022 Dec;43(6):762-770. doi: 10.1080/13816810.2022.2141797. Epub 2022 Nov 3.
PubMed 36325802
Study at a glance
From the registry record, last updated by the sponsor on 18 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Associations of Ocular Cancers
- ClinicalTrials.gov ID
- NCT06725173
- Acronym / sponsor ID
- STUDY00021737
- Conditions
- Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent, Retinoblastoma
- Keywords
- retinoblastoma, parent-of-origin
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University of WashingtonUniversity, hospital or other
- Collaborators
- National Eye Institute (NEI)
- Study start
- 16 Mar 2026 (estimated)
- Primary completion
- 1 Jan 2030 (estimated)
- Study completion
- 1 Jan 2031 (estimated)
- First posted
- 10 Dec 2024 (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.
The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with presumed germline retinoblastoma due to RB1 mutation | – | Genetic: Targeted Long-read sequencing |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- patients with presumed or genetically confirmed retinoblastoma
Key inclusion criteria (2 listed)
- Patients with molecularly proven retinoblastoma due to RB1 or a typical clinical retinoblastoma phenotype with genetic screening pending.
- Able to give consent/parent or guardian able to give consent.
Key exclusion criteria (2 listed)
- Patients unable or unwilling to undertake consent or clinical testing.
- Patients unwilling to donate a saliva or blood sample in order to establish the genetic cause of their condition.
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 |
|---|---|---|
| Targeted Long-read sequencingAlso: Long-read sequencingAll patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene | Genetic | Patients with presumed germline retinoblastoma due to RB1 mutation |
Primary outcome
Epigenomic and genomic profiling of the RB1 gene
Time frame: 5 years
Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Mar 2026.
- Background: PubMed 39724000Stacey AW, Nakamichi K, Huey J, Stevens J, Waligorski N, Crotty EE, Van Gelder RN, Mustafi D. Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma. JCI Insight. 2024 Dec 26;10(4):e188216. doi: 10.1172/jci.insight.188216.
- Background: PubMed 36325802Nakamichi K, Stacey A, Mustafi D. Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma. Ophthalmic Genet. 2022 Dec;43(6):762-770. doi: 10.1080/13816810.2022.2141797. Epub 2022 Nov 3.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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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.
Debarshi Mustafi, MD PhD principal investigator
University of Washington
Andrew W Stacey, MD principal investigator
University of Washington
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 Retinoblastoma Bilateral and Retinoblastoma Unilateral, run by University of Washington at 1 site in United States.
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: looking for participants now, as of the sponsor's last update on 18 Mar 2026. 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 United States. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Debarshi Mustafi, MD PhD (206-683-6305, debarshi@uw.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Epigenomic and genomic profiling of the RB1 gene (time frame: 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 NCT06725173, which also lists 2 linked publications.
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 18 Mar 2026.