Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia

NCT ID: NCT05910853

Last Updated: 2024-04-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

4 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-05-24

Study Completion Date

2024-03-12

Brief Summary

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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.

Detailed Description

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Conditions

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Fanconi Anemia

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Study Groups

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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

Specimen Donation

Intervention Type DIAGNOSTIC_TEST

Blood 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

Specimen Donation

Intervention Type DIAGNOSTIC_TEST

Blood 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

Specimen Donation

Intervention Type DIAGNOSTIC_TEST

Blood 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

Specimen Donation

Intervention Type DIAGNOSTIC_TEST

Blood 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

Specimen Donation

Intervention Type DIAGNOSTIC_TEST

Blood donation

Interventions

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Specimen Donation

Blood donation

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion Criteria

* 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
Minimum Eligible Age

18 Years

Maximum Eligible Age

85 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Sanguine Biosciences

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Andrew C Frisina, M.S.

Role: STUDY_CHAIR

Sanguine Biosciences

Locations

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Sanguine Biosciences

Woburn, Massachusetts, United States

Site Status

Countries

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United States

Other Identifiers

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SAN-09686

Identifier Type: -

Identifier Source: org_study_id

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