Fanconi AnemiaNCT05910853
Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia
An observational study of Fanconi Anemia, run by Sanguine Biosciences at 1 site in United States.
Trial summary
The primary study objective is to collect biospecimen samples (e.g., blood) from participants diagnosed with Fanconi Anemia. The biospecimens will be used to create a biorepository that can be used to identify disease associated biomarkers and potential targets with immune and multi-omics profiling. Read more about this study
- Who is it for?
- Ages 18 to 85 years
- Conditions the study is for
- Fanconi Anemia
- What is being tested?
- Specimen Donation
- How many people
- 4 participants
- Where
- 1 siteUnited States
- Study dates
- 24 May 2023to 12 Mar 2024
- 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 18 to 85 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Participants have been diagnosed with Fanconi Anemia
Who may be able to join
- The participant is willing and able to provide written informed consent
- The participant is willing and able to provide appropriate photo identification
- Participants aged 18 to 85
- Participants have been diagnosed with Fanconi Anemia complementation group A
Who cannot join
- Participants who are pregnant or are nursing
- Participants with a known history of HIV, hepatitis, or other infectious diseases Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months
Trial locations and contacts
1 site in 1 country.
About this study
The primary study objective is to collect biospecimen samples (e.g., blood) from participants diagnosed with Fanconi Anemia. The biospecimens will be used to create a biorepository that can be used to identify disease associated biomarkers and potential targets with immune and multi-omics profiling. The disease sample collection and analysis will be the foundation for an extensive network of biospecimen access and linked datasets for future translational research.
- Conditions
- Fanconi Anemia
- Being tested
- Specimen Donation
- Medical subject headings
- Fanconi Anemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Specimen DonationDiagnostic test
Blood donation
| Study group | Role | What they receive |
|---|---|---|
| Fanconi Anemia (Non-Specific Genotypes) | Cohort 1-Fanconi Anemia (Non-Specific Genotypes) (N=4):
Inclusion:
1. The participant is willing and able to provide written informed consent
2. The participant is willing and able to provide appropriate photo identification
3. Participants aged 18 to 85
4. Participants have been diagnosed with Fanconi Anemia complementation group A*Inclusion preference (not required for enrollment into the study): 1)
Participants preferentially have one of the following genotypes:
c3788_3790delTCT, c295 G to T, c3558-3559 insertion of G, or c1115_1118delTTGG
Exclusion:
1. Participants who are pregnant or are nursing
2. Participants with a known history of HIV, hepatitis, or other infectious diseases
3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months Receives: Diagnostic Test: Specimen Donation | |
| Fanconi Anemia (c3788_3790delTCT) | Cohort 2 - Fanconi Anemia (c3788_3790delTCT) (N=1):
Inclusion:
1. The participant is willing and able to provide written informed consent
2. The participant is willing and able to provide appropriate photo identification
3. Participants aged 18 to 85
4. Participants have been diagnosed with Fanconi Anemia complementation group A
5. 1 participant must be diagnosed with the following genotype: c3788_3790delTCT
Exclusion:
1. Participants who are pregnant or are nursing
2. Participants with a known history of HIV, hepatitis, or other infectious diseases
3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months Receives: Diagnostic Test: Specimen Donation | |
| Fanconi Anemia (c295 G to T) | Cohort 3 - Fanconi Anemia (c295 G to T) (N=1):
Inclusion:
1. The participant is willing and able to provide written informed consent
2. The participant is willing and able to provide appropriate photo identification
3. Participants aged 18 to 85
4. Participants have been diagnosed with Fanconi Anemia complementation group A
5. 1 participant must be diagnosed with the following genotype: c295 G to T
Exclusion:
1. Participants who are pregnant or are nursing
2. Participants with a known history of HIV, hepatitis, or other infectious diseases
3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months Receives: Diagnostic Test: Specimen Donation | |
| Fanconi Anemia (c3558-3559 insertion of G) | Cohort 4 - Fanconi Anemia (c3558-3559 insertion of G) (N=1):
Inclusion:
1. The participant is willing and able to provide written informed consent
2. The participant is willing and able to provide appropriate photo identification
3. Participants aged 18 to 85
4. Participants have been diagnosed with Fanconi Anemia complementation group A
5. 1 participant must be diagnosed with the following genotype: c3558-3559 insertion of G
Exclusion:
1. Participants who are pregnant or are nursing
2. Participants with a known history of HIV, hepatitis, or other infectious diseases
3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months Receives: Diagnostic Test: Specimen Donation | |
| Fanconi Anemia (c1115_1118delTTGG) | Cohort 5 - Fanconi Anemia (c1115_1118delTTGG) (N=1):
Inclusion:
1. The participant is willing and able to provide written informed consent
2. The participant is willing and able to provide appropriate photo identification
3. Participants aged 18 to 85
4. Participants have been diagnosed with Fanconi Anemia complementation group A
5. 1 participant must be diagnosed with the following genotype: c1115_1118delTTGG
Exclusion:
1. Participants who are pregnant or are nursing
2. Participants with a known history of HIV, hepatitis, or other infectious diseases
3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months Receives: Diagnostic Test: Specimen Donation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Biospecimen Samples collect from patients with Fanconi Anemia participants diagnosed with Fanconi Anemia.
The primary study objective is to collect biospecimen samples (e.g., blood) from participants diagnosed with Fanconi Anemia. The biospecimens will be used to create a biorepository that can be used to identify disease associated biomarkers and potential targets with immune and multi-omics profiling. The disease sample collection and analysis will be the foundation for an extensive network of biospecimen access and linked datasets for future translational research.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jun 2023
- Study start24 May 2023
- Primary completion12 Mar 2024
- Study completion12 Mar 2024
Why it stopped: Unable to recruit new subjects due to disease rarity
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fanconi AnemiaStudies 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
- Other
- Time perspective
- Prospective
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sanguine Biosciences
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Andrew C Frisina, M.S., Study chair, Sanguine Biosciences
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05910853
- Sponsor's protocol ID
- SAN-09686
- Status last verified
- Apr 2024
- First submitted
- 8 Jun 2023
- Last updated
- 18 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia
- ClinicalTrials.gov ID
- NCT05910853
- Acronym / sponsor ID
- SAN-09686
- Conditions
- Fanconi Anemia
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Unable to recruit new subjects due to disease rarity
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Sanguine BiosciencesIndustry (pharma, biotech, devices)
- Study start
- 24 May 2023 (actual)
- Primary completion
- 12 Mar 2024 (actual)
- Study completion
- 12 Mar 2024 (actual)
- First posted
- 20 Jun 2023 (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 primary study objective is to collect biospecimen samples (e.g., blood) from participants diagnosed with Fanconi Anemia. The biospecimens will be used to create a biorepository that can be used to identify disease associated biomarkers and potential targets with immune and multi-omics profiling. The disease sample collection and analysis will be the foundation for an extensive network of biospecimen access and linked datasets for future translational research.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| Fanconi Anemia (Non-Specific Genotypes) | – | Diagnostic Test: Specimen DonationCohort 1-Fanconi Anemia (Non-Specific Genotypes) (N=4): Inclusion: 1. The participant is willing and able to provide written informed consent 2. The participant is willing and able to provide appropriate photo identification 3. Participants aged 18 to 85 4. Participants have been diagnosed with Fanconi Anemia complementation group A*Inclusion preference (not required for enrollment into the study): 1) Participants preferentially have one of the following genotypes: c3788_3790delTCT, c295 G to T, c3558-3559 insertion of G, or c1115_1118delTTGG Exclusion: 1. Participants who are pregnant or are nursing 2. Participants with a known history of HIV, hepatitis, or other infectious diseases 3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months |
| Fanconi Anemia (c3788_3790delTCT) | – | Diagnostic Test: Specimen DonationCohort 2 - Fanconi Anemia (c3788_3790delTCT) (N=1): Inclusion: 1. The participant is willing and able to provide written informed consent 2. The participant is willing and able to provide appropriate photo identification 3. Participants aged 18 to 85 4. Participants have been diagnosed with Fanconi Anemia complementation group A 5. 1 participant must be diagnosed with the following genotype: c3788_3790delTCT Exclusion: 1. Participants who are pregnant or are nursing 2. Participants with a known history of HIV, hepatitis, or other infectious diseases 3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months |
| Fanconi Anemia (c295 G to T) | – | Diagnostic Test: Specimen DonationCohort 3 - Fanconi Anemia (c295 G to T) (N=1): Inclusion: 1. The participant is willing and able to provide written informed consent 2. The participant is willing and able to provide appropriate photo identification 3. Participants aged 18 to 85 4. Participants have been diagnosed with Fanconi Anemia complementation group A 5. 1 participant must be diagnosed with the following genotype: c295 G to T Exclusion: 1. Participants who are pregnant or are nursing 2. Participants with a known history of HIV, hepatitis, or other infectious diseases 3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months |
| Fanconi Anemia (c3558-3559 insertion of G) | – | Diagnostic Test: Specimen DonationCohort 4 - Fanconi Anemia (c3558-3559 insertion of G) (N=1): Inclusion: 1. The participant is willing and able to provide written informed consent 2. The participant is willing and able to provide appropriate photo identification 3. Participants aged 18 to 85 4. Participants have been diagnosed with Fanconi Anemia complementation group A 5. 1 participant must be diagnosed with the following genotype: c3558-3559 insertion of G Exclusion: 1. Participants who are pregnant or are nursing 2. Participants with a known history of HIV, hepatitis, or other infectious diseases 3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months |
| Fanconi Anemia (c1115_1118delTTGG) | – | Diagnostic Test: Specimen DonationCohort 5 - Fanconi Anemia (c1115_1118delTTGG) (N=1): Inclusion: 1. The participant is willing and able to provide written informed consent 2. The participant is willing and able to provide appropriate photo identification 3. Participants aged 18 to 85 4. Participants have been diagnosed with Fanconi Anemia complementation group A 5. 1 participant must be diagnosed with the following genotype: c1115_1118delTTGG Exclusion: 1. Participants who are pregnant or are nursing 2. Participants with a known history of HIV, hepatitis, or other infectious diseases 3. Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months |
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants have been diagnosed with Fanconi Anemia
Key inclusion criteria (4 listed)
- The participant is willing and able to provide written informed consent
- The participant is willing and able to provide appropriate photo identification
- Participants aged 18 to 85
- Participants have been diagnosed with Fanconi Anemia complementation group A
Key exclusion criteria (2 listed)
- Participants who are pregnant or are nursing
- Participants with a known history of HIV, hepatitis, or other infectious diseases Participants who have taken an investigational product in the last 30 days Participants who have experienced excess blood loss, including blood donation, defined as 250 mL in the last month or 500 mL in the previous two months
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 |
|---|---|---|
| Specimen DonationBlood donation | Diagnostic test | Fanconi Anemia (Non-Specific Genotypes), Fanconi Anemia (c1115_1118delTTGG), Fanconi Anemia (c295 G to T), Fanconi Anemia (c3558-3559 insertion of G), Fanconi Anemia (c3788_3790delTCT) |
Primary outcome
Biospecimen Samples collect from patients with Fanconi Anemia participants diagnosed with Fanconi Anemia.
Time frame: 1 year
The primary study objective is to collect biospecimen samples (e.g., blood) from participants diagnosed with Fanconi Anemia. The biospecimens will be used to create a biorepository that can be used to identify disease associated biomarkers and potential targets with immune and multi-omics profiling. The disease sample collection and analysis will be the foundation for an extensive network of biospecimen access and linked datasets for future translational research.
Results and safety
The study was stopped early (reason given: Unable to recruit new subjects due to disease rarity). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Apr 2024.
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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.
Andrew C Frisina, M.S. study chair
Sanguine Biosciences
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 Fanconi Anemia, run by Sanguine Biosciences 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 4 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: stopped early, as of the sponsor's last update on 18 Apr 2024. 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 was stopped early (reason given: Unable to recruit new subjects due to disease rarity). 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?
Biospecimen Samples collect from patients with Fanconi Anemia participants diagnosed with Fanconi Anemia. (time frame: 1 year). 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 18 Apr 2024.