Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Unable to recruit new subjects due to disease rarity
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Fanconi Anemia (Non-Specific Genotypes) | Cohort 1-Fanconi Anemia (Non-Specific Genotypes) (N=4): Inclusion:
Participants preferentially have one of the following genotypes: c3788_3790delTCT, c295 G to T, c3558-3559 insertion of G, or c1115_1118delTTGG Exclusion:
|
| |
| Fanconi Anemia (c3788_3790delTCT) | Cohort 2 - Fanconi Anemia (c3788_3790delTCT) (N=1): Inclusion:
Exclusion:
|
| |
| Fanconi Anemia (c295 G to T) | Cohort 3 - Fanconi Anemia (c295 G to T) (N=1): Inclusion:
Exclusion:
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Specimen Donation | Diagnostic Test | Blood donation |
|
| 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 |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Participants have been diagnosed with Fanconi Anemia
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Andrew C Frisina, M.S. | Sanguine Biosciences | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Sanguine Biosciences | Woburn | Massachusetts | 01801 | United States |
Not provided
| ID | Term |
|---|---|
| D005199 | Fanconi Anemia |
| ID | Term |
|---|---|
| D029502 | Anemia, Hypoplastic, Congenital |
| D000741 | Anemia, Aplastic |
| D000740 | Anemia |
| D006402 | Hematologic Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
|
| Fanconi Anemia (c3558-3559 insertion of G) | Cohort 4 - Fanconi Anemia (c3558-3559 insertion of G) (N=1): Inclusion:
Exclusion:
|
|
| Fanconi Anemia (c1115_1118delTTGG) | Cohort 5 - Fanconi Anemia (c1115_1118delTTGG) (N=1): Inclusion:
Exclusion:
|
|
| D006425 |
| Hemic and Lymphatic Diseases |
| D000080984 | Congenital Bone Marrow Failure Syndromes |
| D000080983 | Bone Marrow Failure Disorders |
| D001855 | Bone Marrow Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |