RetinoblastomaNCT02193724
Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma
An observational study of Retinoblastoma, run by St. Jude Children's Research Hospital at 1 site in United States.
Trial summary
The goal of this study is to determine if human RB1-deficient induced pluripotent stem cells (iPSCs) can produce retina, and, furthermore, can give rise to retinoblastoma in culture. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Retinoblastoma
- What is being tested?
- Skin Biopsy and Blood Draw
- How many people
- 15 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Nov 2014to 23 Aug 2019
- 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: Participants will have a diagnosis of heritable retinoblastoma.
Who may be able to join
- Research participant with heritable retinoblastoma and one of the following criteria:
- Family history with RB1 mutation identified
- Diagnosis of bilateral retinoblastoma
- Diagnosis of unilateral retinoblastoma with RB1 mutation or MYCN amplification identified
- Participant or legal guardian/representative is able and willing to provide written informed consent.
Who cannot join
- Participants who do not meet the inclusion criteria will be excluded.
Trial locations and contacts
1 site in 1 country.
United States1 site
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
About this study
Official title: Feasibility, Validation and Differentiation of Induced Pluripotent Stem Cells Produced From Patients With Heritable Retinoblastoma
The goal of this study is to determine if human RB1-deficient induced pluripotent stem cells (iPSCs) can produce retina, and, furthermore, can give rise to retinoblastoma in culture. This unique opportunity to study the initiation of retinoblastoma in the developing retina will shed light on the cell of origin for retinoblastoma and allow the investigators to study the earliest molecular and cellular events in retinoblastoma tumorigenesis.
OBJECTIVES:
- To establish the feasibility of producing induced pluripotent stem cells (iPSCs) from retinoblastoma patients with germline RB1 mutations (RB1-deficient iPSCs).
- To validate human RB1-deficient iPSCs by confirming karyotype, pluripotency and RB1 mutation.
- To differentiate the RB1-deficient iPSCs into retina as a model of the initiation of retinoblastoma in the developing retina.
Read the detailed description
This is an observational study where a small skin cell sample or peripheral blood sample will be used to produce iPSCs. After RB1-deficient iPSCs are produced, their karyotype and RB1 mutation will be confirmed and their pluripotency will be tested by studying the expression of pluripotent genes and proteins according to standardized guidelines established for human iPSCs. After validation of the RB1-deficient iPSCs, they will be differentiated in the laboratory into retina following established protocols.
- Conditions
- Retinoblastoma
- Being tested
- Skin Biopsy, Blood Draw
- Keywords
- Heritable Retinoblastoma, Familial Retinoblastoma, Pluripotent Stem Cells
- Medical subject headings
- Retinoblastoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin BiopsyOther
Also called Punch Biopsy
A very small skin sample will be taken from the participant's arm. This will only be performed while the patient is under sedation for clinical purposes (e.g. exam under anesthesia, MRI, or other procedure requiring sedation).
Blood DrawOther
Also called Blood Sample
About 1 teaspoon of blood will be drawn from the participant's arm or from a central line catheter if present. Blood collection will be done at the same time the participant has blood drawn for routine clinical care.
| Study group | Role | What they receive |
|---|---|---|
| Retinoblastoma | Participants identified with heritable retinoblastoma will undergo a skin biopsy or blood draw to collect cells for processing and analysis. Receives: Other: Skin Biopsy; Other: Blood Draw |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of samples which successfully produced iPSCs
Skin biopsy or peripheral blood mononuclear cells will be collected from eligible, consenting participants and shipped directly to the University of Wisconsin for processing. All samples will be returned to the St. Jude investigator within two months of reprogramming for further analysis.
Measured: Once at enrollment
Secondary outcomes (2)
Number of samples with validated RB1-deficient iPSCs
Samples will be analyzed for standard G band karyotype and FISH analysis (RB1 probe), targeted RB1 mutation (based on known mutation of patient from whom the sample was derived), and validation of pluripotency based on standard protocols.
Measured: Once at enrollment
Number of samples that differentiate human iPSCs toward an eye field fate
The best available methodology will be utilized for analyses of the RB1-deficient iPSCs.
Measured: Once at enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jul 2014 (estimated)
- Study start4 Nov 2014
- Primary completion23 Aug 2019
- Study completion23 Aug 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for RetinoblastomaStudies of the same condition, open and under way.
- More trials run by St. Jude Children's Research HospitalThe 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
- 15 participants (actual)
Sponsor and investigators
- Lead sponsor
- St. Jude Children's Research Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- University of Wisconsin, Madison
- Responsible party
- Sponsor
- Investigators
- Rachel C. Brennan, MD, Principal investigator, St. Jude Children's Research Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02193724
- Sponsor's protocol ID
- RETCELL
- Status last verified
- Oct 2020
- First submitted
- 16 Jul 2014
- Last updated
- 23 Oct 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Oct 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Feasibility, Validation and Differentiation of Induced Pluripotent Stem Cells Produced From Patients With Heritable Retinoblastoma
- ClinicalTrials.gov ID
- NCT02193724
- Acronym / sponsor ID
- RETCELL
- Conditions
- Retinoblastoma
- Keywords
- Heritable Retinoblastoma, Familial Retinoblastoma, Pluripotent Stem Cells
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 15 participants (actual)
- Lead sponsor
- St. Jude Children's Research HospitalUniversity, hospital or other
- Collaborators
- University of Wisconsin, Madison
- Study start
- 4 Nov 2014 (actual)
- Primary completion
- 23 Aug 2019 (actual)
- Study completion
- 23 Aug 2019 (actual)
- First posted
- 18 Jul 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.
The goal of this study is to determine if human RB1-deficient induced pluripotent stem cells (iPSCs) can produce retina, and, furthermore, can give rise to retinoblastoma in culture. This unique opportunity to study the initiation of retinoblastoma in the developing retina will shed light on the cell of origin for retinoblastoma and allow the investigators to study the earliest molecular and cellular events in retinoblastoma tumorigenesis.
OBJECTIVES:
- To establish the feasibility of producing induced pluripotent stem cells (iPSCs) from retinoblastoma patients with germline RB1 mutations (RB1-deficient iPSCs).
- To validate human RB1-deficient iPSCs by confirming karyotype, pluripotency and RB1 mutation.
- To differentiate the RB1-deficient iPSCs into retina as a model of the initiation of retinoblastoma in the developing retina.
Detailed description
This is an observational study where a small skin cell sample or peripheral blood sample will be used to produce iPSCs. After RB1-deficient iPSCs are produced, their karyotype and RB1 mutation will be confirmed and their pluripotency will be tested by studying the expression of pluripotent genes and proteins according to standardized guidelines established for human iPSCs. After validation of the RB1-deficient iPSCs, they will be differentiated in the laboratory into retina following established protocols.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Retinoblastoma | – | Other: Skin Biopsy, Other: Blood DrawParticipants identified with heritable retinoblastoma will undergo a skin biopsy or blood draw to collect cells for processing and analysis. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants will have a diagnosis of heritable retinoblastoma.
Key inclusion criteria (5 listed)
- Research participant with heritable retinoblastoma and one of the following criteria:
- Participant or legal guardian/representative is able and willing to provide written informed consent.
Key exclusion criteria (1 listed)
- Participants who do not meet the inclusion criteria will be excluded.
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 |
|---|---|---|
| Skin BiopsyAlso: Punch BiopsyA very small skin sample will be taken from the participant's arm. This will only be performed while the patient is under sedation for clinical purposes (e.g. exam under anesthesia, MRI, or other procedure requiring sedation). | Other | Retinoblastoma |
| Blood DrawAlso: Blood SampleAbout 1 teaspoon of blood will be drawn from the participant's arm or from a central line catheter if present. Blood collection will be done at the same time the participant has blood drawn for routine clinical care. | Other | Retinoblastoma |
Primary outcome
Number of samples which successfully produced iPSCs
Time frame: Once at enrollment
Skin biopsy or peripheral blood mononuclear cells will be collected from eligible, consenting participants and shipped directly to the University of Wisconsin for processing. All samples will be returned to the St. Jude investigator within two months of reprogramming for further analysis.
2 secondary outcomes
Number of samples with validated RB1-deficient iPSCs
Time frame: Once at enrollment
Number of samples that differentiate human iPSCs toward an eye field fate
Time frame: Once at enrollment
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 23 Oct 2020.
- St. Jude Children's Research HospitalLink provided by the sponsor.
- Clinical Trials Open at St. JudeLink provided by the sponsor.
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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.
Rachel C. Brennan, MD principal investigator
St. Jude Children's Research 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 Retinoblastoma, run by St. Jude Children's Research Hospital 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 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 23 Oct 2020. 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?
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?
Number of samples which successfully produced iPSCs (time frame: Once at enrollment). 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 23 Oct 2020.