Autosomal recessive Kenny-Caffey syndrome
MONDO:0009486An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.
Also known as: Kenny-Caffey syndrome type 1, Kenny-Caffey syndrome, autosomal recessive, KCS1, Kcs, Kenny-Caffey syndrome, type 1
4 clinical trials for this condition and its sub-types, 4 tagged with Autosomal recessive Kenny-Caffey syndrome itself.
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New drug DSB2455 targets Hard-to-Treat cancers in early trial
Disease control Recruiting nowThis early-phase study tests a new drug called DSB2455 in adults with advanced cancers (breast, ovarian, prostate, pancreatic, or brain metastases) that have a specific DNA repair problem. The main goals are to check safety and see if the drug shrinks tumors. About 180 participan…
Phase 1 • Sponsor: Duke Street Bio Ltd • Aim: Disease control
Last updated Sep 04, 2026 00:00 UTC
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New drug combo hopes to tackle Hard-to-Treat cancers
Disease control Recruiting nowThis early-phase study tests a new oral drug called SYN818 combined with olaparib in 110 adults with advanced solid tumors, including ovarian and breast cancers that have BRCA mutations or related DNA repair problems. The main goals are to find a safe dose and check for side effe…
Phase 1 • Sponsor: Hangzhou SynRx Therapeutics Biomedical Technology Co., Ltd • Aim: Disease control
Last updated Jun 26, 2026 14:17 UTC
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1,000 women with ovarian cancer to help unlock genetic treatment clues
Knowledge-focused Recruiting nowThis study follows 1,000 women newly diagnosed with epithelial ovarian cancer to see how their genetic makeup (BRCA and HRD status) influences their response to standard treatments. Researchers will track surgery outcomes, treatment response, and survival. The goal is to gather r…
Sponsor: Nordic Society of Gynaecological Oncology - Clinical Trials Unit • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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Can a simple test predict ovarian cancer treatment success?
Knowledge-focused Recruiting nowThis study is testing two genetic tests (Giscar and myChoice) to see if they can identify ovarian cancer patients whose tumors have a specific DNA repair problem (HRD). The goal is to see if these tests can predict which patients will respond well to platinum chemotherapy and may…
Phase 2 • Sponsor: Centre Francois Baclesse • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:47 UTC