Fanconi anemia complementation group D1
MONDO:0011584Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.
Also known as: FAD1, FANCD1, Fanconi anemia complementation group D1, Fad1, Fanconi anemia, complementation group D1, inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
18 clinical trials for this condition and its sub-types, 6 tagged with Fanconi anemia complementation group D1 itself.
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Can a Two-Drug immune attack shrink Hard-to-Treat pancreatic tumors?
Disease control Not yet recruitingThis phase 2 trial is testing whether combining two immunotherapy drugs—vilastobart and retifanlimab—can shrink tumors in people with metastatic pancreatic cancer that has a BRCA1, BRCA2, or PALB2 gene mutation. Participants receive both drugs by IV infusion over several months. …
Phase 2 • Sponsor: Massachusetts General Hospital • Aim: Disease control
Last updated Aug 16, 2026 00:00 UTC
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Smartwatch signals may flag anemia, no needle needed
Diagnosis Not yet recruitingAnemia often goes unnoticed because diagnosis requires a blood draw. This study tests whether a wrist-worn smartwatch can identify people likely to have anemia by tracking blood flow, heart rate, oxygen, and movement. About 400 adults, with and without anemia, will wear the watch…
Sponsor: Peking Union Medical College Hospital • Aim: Diagnosis
Last updated Sep 03, 2026 00:00 UTC
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Could a painless light sensor replace the needle for anemia screening?
Diagnosis Not yet recruitingThis study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…
Sponsor: Tarumanagara University • Aim: Diagnosis
Last updated Jul 17, 2026 00:00 UTC