Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia

NCT05910853 | Terminated

• 1 other identifier: SAN-09686
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 1

Brief 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. 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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (5)

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

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

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

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

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

Diagnostic Test: Specimen Donation

Interventions

Specimen Donation DIAGNOSTIC_TEST

Blood donation

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)

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants have been diagnosed with Fanconi Anemia

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Sanguine Biosciences: lead

Study Sites (1)

Sanguine Biosciences

Woburn, Massachusetts, 01801, United States

Location

MeSH Terms

Conditions

Fanconi Anemia

Condition Hierarchy (Ancestors)

Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Andrew C Frisina, M.S.

  Sanguine Biosciences

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 8, 2023
• First Posted: June 20, 2023
• Study Start: May 24, 2023
• Primary Completion: March 12, 2024
• Study Completion: March 12, 2024
• Last Updated: April 18, 2024

Record last verified: 2024-04

Locations

US (1)