Fanconi anemia
Information
- Disease name
- Fanconi anemia
- Disease ID
- DOID:13636
- Description
- "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair." [url:http\://en.wikipedia.org/wiki/Fanconi_anemia, url:http\://ghr.nlm.nih.gov/condition/fanconi-anemia, url:http\://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1]
Disease area statistics
Chromosome band
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03476330 | Active, not recruiting | Phase 2 | Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia | May 8, 2018 | October 2026 |
| NCT00542373 | Active, not recruiting | N/A | Widefield Fluorescence and Reflectance Imaging Systems and Oral Tissue Samples in Monitoring Participants at Risk for Developing Oral Cancer | August 27, 2007 | April 30, 2025 |
| NCT01995305 | Available | Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents | |||
| NCT00243399 | Completed | Phase 1 | Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia | July 2004 | January 2010 |
| NCT00258427 | Completed | Phase 2 | Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia | March 26, 2002 | October 10, 2020 |
| NCT00271089 | Completed | N/A | Blood Cell Collection for Future Use in Individuals With Fanconi Anemia | August 2004 | October 2007 |
| NCT00272857 | Completed | Phase 1 | Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia | August 2004 | October 2007 |
| NCT06045052 | Completed | Phase 2 | Eltrombopag for Treatment of Fanconi Anemia | December 2, 2020 | August 29, 2023 |
| NCT00053989 | Completed | Phase 2 | NMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders | January 29, 2002 | July 19, 2018 |
| NCT00093743 | Completed | Phase 1 | Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia | January 2000 | |
| NCT00305708 | Completed | Phase 1/Phase 2 | Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission | August 2000 | July 2004 |
| NCT00317876 | Completed | Phase 1 | Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia | June 1998 | |
| NCT00352976 | Completed | Phase 2/Phase 3 | TBI Dose De-escalation for Fanconi Anemia | May 18, 2006 | October 9, 2020 |
| NCT00453388 | Completed | Phase 2 | Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia | February 2007 | June 2013 |
| NCT00479115 | Completed | Phase 1/Phase 2 | Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 | May 2007 | December 2010 |
| NCT00499070 | Completed | Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment | January 2007 | August 2012 | |
| NCT00595127 | Completed | N/A | Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine | June 2001 | May 2013 |
| NCT00630253 | Completed | Phase 1/Phase 2 | Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia | February 17, 2000 | October 10, 2020 |
| NCT00856388 | Completed | N/A | Fludarabine Phosphate, Melphalan, Total-Body Irradiation, Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer or Bone Marrow Failure Disorders | January 14, 2009 | March 13, 2019 |
| NCT00899522 | Completed | Tissue Sample Collection From Patients With Fanconi Anemia | August 2005 | May 2013 | |
| NCT00900055 | Completed | Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma | June 1975 | August 23, 2016 | |
| NCT00965666 | Completed | Early Phase 1 | Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia | October 2005 | October 2010 |
| NCT01071239 | Completed | Phase 2 | Hematopoietic Stem Cell Transplant for Fanconi Anemia | April 2009 | August 30, 2016 |
| NCT01146210 | Completed | Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia | May 2009 | May 2016 | |
| NCT01316549 | Completed | Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation | January 1, 2011 | April 30, 2016 | |
| NCT01720147 | Completed | Phase 1 | Quercetin in Children With Fanconi Anemia; a Pilot Study | July 2012 | October 26, 2021 |
| NCT01917708 | Completed | Phase 1 | Bone Marrow Transplant With Abatacept for Non-Malignant Diseases | January 2014 | September 19, 2019 |
| NCT02678533 | Completed | Phase 1/Phase 2 | Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor | February 10, 2017 | May 3, 2019 |
| NCT02931071 | Completed | Phase 2 | Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 | September 2013 | October 2018 |
| NCT03157804 | Completed | Phase 1/Phase 2 | Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A | January 7, 2016 | September 8, 2023 |
| NCT03398824 | Completed | Phase 2 | Pilot Study of Metformin for Patients With Fanconi Anemia | March 29, 2018 | October 9, 2020 |
| NCT03609840 | Completed | Study of Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients | May 24, 2017 | July 31, 2023 | |
| NCT00000603 | Completed | Phase 2 | Cord Blood Stem Cell Transplantation Study (COBLT) | September 1996 | October 2007 |
| NCT04437771 | Enrolling by invitation | Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy | June 1, 2020 | January 30, 2035 | |
| NCT04522375 | Recruiting | Phase 1/Phase 2 | A Dose Escalation Study of FP-045 in Patients With Fanconi Anemia | June 30, 2023 | December 2025 |
| NCT05973656 | Recruiting | N/A | Role of Acetaldehyde in the Development of Oral Cancer | July 8, 2022 | September 30, 2027 |
| NCT03579875 | Recruiting | Phase 2 | Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders | November 13, 2018 | January 5, 2029 |
| NCT02143830 | Recruiting | Phase 2 | HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy | April 2014 | July 2026 |
| NCT00027274 | Recruiting | Cancer in Inherited Bone Marrow Failure Syndromes | November 28, 2001 | ||
| NCT04784052 | Recruiting | Phase 1/Phase 2 | Depleted Donor Stem Cell Transplant in Children and Adults With Fanconi Anemia After Being Conditioned With a Regimen Containing Briquilimab | December 7, 2021 | April 2028 |
| NCT05598515 | Recruiting | N/A | Time-restricted Feeding to Reduce Inflammation in Fanconi Anemia | November 11, 2022 | October 2025 |
| NCT02720679 | Recruiting | Investigation of the Genetics of Hematologic Diseases | June 17, 2016 | July 2050 | |
| NCT05687149 | Recruiting | Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia | March 23, 2023 | December 31, 2035 | |
| NCT03050268 | Recruiting | Familial Investigations of Childhood Cancer Predisposition | April 6, 2017 | March 31, 2037 | |
| NCT03206086 | Recruiting | Phase 2 | Eltrombopag for People With Fanconi Anemia | November 2, 2018 | May 1, 2030 |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT01319851 | Terminated | N/A | Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation | September 2010 | September 2013 |
| NCT02065869 | Terminated | Phase 1/Phase 2 | Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant | April 2014 | September 7, 2021 |
| NCT00290628 | Terminated | N/A | Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer | October 1999 | April 2007 |
| NCT00167206 | Terminated | Phase 1/Phase 2 | Stem Cell Transplantation for Fanconi Anemia | March 2004 | December 2008 |
| NCT00586274 | Terminated | Phase 1 | Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT | March 2002 | July 2009 |
| NCT00590460 | Terminated | Phase 1/Phase 2 | Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia | July 2001 | September 2009 |
| NCT05910853 | Terminated | Whole Blood Biospecimen Collection for Subjects With Fanconi Anemia | May 24, 2023 | March 12, 2024 | |
| NCT00896740 | Terminated | Gene Function in Bone Marrow Cells From Patients With Fanconi Anemia and From Healthy Participants | March 2002 | September 2007 | |
| NCT03600909 | Terminated | Phase 2 | A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia | May 15, 2018 | April 9, 2021 |
| NCT01001598 | Terminated | Phase 1/Phase 2 | Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita | November 2009 | May 2014 |
| NCT03733249 | Terminated | Phase 1/Phase 2 | Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study | January 2017 | April 14, 2023 |
| NCT01331018 | Terminated | Phase 1 | Gene Therapy for Fanconi Anemia | February 22, 2012 | February 15, 2024 |
| NCT01019876 | Unknown status | Phase 2/Phase 3 | Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases | June 2002 | May 2013 |
| NCT03351868 | Unknown status | N/A | FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector | December 1, 2017 | December 31, 2021 |
| NCT00084695 | Unknown status | Phase 2 | Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases | September 2003 | |
| NCT04656171 | Withdrawn | N/A | Microcephaly, Fanconi Anemia and Praxial Disorders | January 30, 2023 | January 30, 2023 |
| NCT02127905 | Withdrawn | N/A | Unrelated HSCT in Patients With Fanconi Anemia | March 2011 | March 2016 |
- Disase is a (Disease Ontology)
- DOID:1342
- Cross Reference ID (Disease Ontology)
- GARD:6425
- Cross Reference ID (Disease Ontology)
- ICD10CM:D61.09
- Cross Reference ID (Disease Ontology)
- MESH:D005199
- Cross Reference ID (Disease Ontology)
- MIM:PS227650
- Cross Reference ID (Disease Ontology)
- NCI:C62505
- Cross Reference ID (Disease Ontology)
- ORDO:84
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:30575002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0015625
- Exact Synonym (Disease Ontology)
- Fanconi anaemia
- Exact Synonym (Disease Ontology)
- Fanconi pancytopenia
- Exact Synonym (Disease Ontology)
- Fanconi panmyelopathy
- Exact Synonym (Disease Ontology)
- Fanconi's anaemia
- Exact Synonym (Disease Ontology)
- Fanconi's anemia
- OMIM Phenotype Series Number (OMIM)
- PS227650
- OrphaNumber from OrphaNet (Orphanet)
- 84
- MeSH unique ID (MeSH (Medical Subject Headings))
- D005199