Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia

April 16, 2024 updated by: Sanguine Biosciences
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 Overview

Status

Terminated

Conditions

Intervention / Treatment

Detailed Description

Biorepositories or biobanks are libraries that store, catalog, and manage biospecimen samples for use in research. Historically, medical organizations have used biorepositories for over a century for clinical reference, teaching, public health study, and research. The Department of Defense has maintained a repository since the Civil War to expand disease knowledge and develop medical countermeasures.2 The biospecimens housed in these repositories may include tissue, blood, urine, saliva, and plasma, among other sample types. These biospecimens are provided by donors, which may be healthy, diseased, or familial samples. The samples often accompany donor/patient information about their medical condition and demographic parameters. Biorepositories are used to understand diseases, therapeutic development, and population health monitoring. The biospecimen samples are collected, processed, stored, and distributed to support current use and future scientific investigations. The original intent of establishing the repository defines the nature of the samples and related data that will be available to investigators. However, this does not limit the use of the stored samples, and often outside researchers request samples to further expand on the scientific investigation of the sample.

The primary objective of this study is to develop a biorepository to identify disease associated biomarkers and potential targets with immune and multi-omics profiling. Biomarkers are defined as characteristics that are objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention.3 Biomarkers can be found in biospecimens but are not inclusive and can expand to other measures, such as pulse and blood pressure.3 The biomarker development process comprises multiple steps: discovery, analytical validation, evaluation of clinical utility, and clinical use.4 Blood biomarkers guide clinical decision-making and can improve the diagnosis and management of people with various diseases. Immune profiling analyzes immune health at a cellular or serological level to identify immunologic signatures, such as immune-cell-associated genes, proteins, and cells.5, 6 Biospecimen immune profiling can help predict clinical outcomes and therapeutic options and development. Omics is an application in research that began with genomics and has expanded to other research areas. Omics is the comprehensive study of the roles, relationships, and actions of various types of molecules in cells or organisms.7 Multi-omics is three or more omic datasets coming from different levels of biological regulation.8 Multi-omics data broadly covers genome, proteome, transcriptome, metabolome, and epigenome.9 Omics can be further extended to other biological data such as lipidome, phosphoproteome, and glycol-proteome.9 Multi-omics can support researchers inthe discovery of predictive or prognostic biomarkers and novel drug targets. Multi-omics can increase the diagnostic yield for health and improve disease prognosis.

The biospecimen subtypes for this study include whole blood from people diagnosed with Fanconi Anemia. The global prevalence and rising burden of Fanconi Anemia is a worldwide healthcare concern. Fanconi anemia is a very rare type of anemia. Overall, an average of 1 out of 136,000 newborns has Fanconi anemia, and it varies from 1 in 100,000 to 250,000 births. European registries and data reveal the prevalence of Fanconi anemia is just 4-7 per million live births.10 The collection and analysis of samples from the diseased specimens will be used for translational research in therapeutic development and a better understanding of the disease to improve health outcomes.

Study Type

Observational

Enrollment (Actual)

4

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Woburn, Massachusetts, United States, 01801
        • Sanguine Biosciences

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Participants have been diagnosed with Fanconi Anemia

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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
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
Diagnostic test: Specimen Donation
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
Diagnostic test: Specimen Donation
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
Diagnostic test: Specimen Donation
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
Diagnostic test: Specimen Donation
Blood donation

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sanguine Biosciences

Investigators

  • Study Chair: Andrew C Frisina, M.S., Sanguine Biosciences

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 24, 2023

Primary Completion (Actual)

March 12, 2024

Study Completion (Actual)

March 12, 2024

Study Registration Dates

First Submitted

June 8, 2023

First Submitted That Met QC Criteria

June 16, 2023

First Posted (Actual)

June 20, 2023

Study Record Updates

Last Update Posted (Actual)

April 18, 2024

Last Update Submitted That Met QC Criteria

April 16, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SAN-09686

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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