Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia

Study Overview
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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.

Official Title
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Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia

Conditions
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Fanconi Anemia

Intervention / Treatment
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* Diagnostic Test: Specimen Donation


Participation Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 85 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Fanconi Anemia (Non-Specific Genotypes)<br>Cohort 1-Fanconi Anemia (Non-Specific Genotypes) (N=4): Inclusion: 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*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: 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 | Diagnostic Test: Specimen Donation<br>* Blood donation<br>|
| Fanconi Anemia (c3788_3790delTCT)<br>Cohort 2 - Fanconi Anemia (c3788_3790delTCT) (N=1): Inclusion: 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 1 participant must be diagnosed with the following genotype: c3788_3790delTCT Exclusion: 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 | Diagnostic Test: Specimen Donation<br>* Blood donation<br>|
| Fanconi Anemia (c295 G to T)<br>Cohort 3 - Fanconi Anemia (c295 G to T) (N=1): Inclusion: 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 1 participant must be diagnosed with the following genotype: c295 G to T Exclusion: 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 | Diagnostic Test: Specimen Donation<br>* Blood donation<br>|
| Fanconi Anemia (c3558-3559 insertion of G)<br>Cohort 4 - Fanconi Anemia (c3558-3559 insertion of G) (N=1): Inclusion: 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 1 participant must be diagnosed with the following genotype: c3558-3559 insertion of G Exclusion: 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 | Diagnostic Test: Specimen Donation<br>* Blood donation<br>|
| Fanconi Anemia (c1115_1118delTTGG)<br>Cohort 5 - Fanconi Anemia (c1115_1118delTTGG) (N=1): Inclusion: 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 1 participant must be diagnosed with the following genotype: c1115_1118delTTGG Exclusion: 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 | Diagnostic Test: Specimen Donation<br>* Blood donation<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 1 year |