Severe combined immunodeficiency due to DCLRE1C deficiency
MONDO:0011225Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
Also known as: DCLRE1C severe combined immunodeficiency (disease), SCID due to ARTEMIS deficiency, SCID due to DCLRE1C deficiency, SCID due to artemis deficiency, SCID, Athabascan type, SCID, Athabaskan type, severe combined immunodeficiency (disease) caused by mutation in DCLRE1C, severe combined immunodeficiency due to ARTEMIS deficiency
8 clinical trials for this condition and its sub-types, 3 tagged with Severe combined immunodeficiency due to DCLRE1C deficiency itself.
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New combo therapy targets cancer's DNA repair weakness
Disease control OngoingThis study tests a combination of two drugs, avelumab and M6620, in people with advanced solid tumors that have spread or can't be removed by surgery. The tumors must have a specific DNA repair defect. The goal is to find the safest dose and see if the combination can help contro…
Phase 1/2 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 13:07 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC