COFS syndrome
MONDO:0008926Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
Also known as: COFS, Cerebro Oculo Facio Skeletal Syndrome, Pena-Shokeir syndrome type 2, cerebro-oculo-facio-skeletal syndrome, cerebrooculofacioskeletal syndrome
4 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
-
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: PHASE1, PHASE2 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 13:07 UTC
-
Which reversal drug causes fewer bathroom problems after surgery?
Knowledge-focused OngoingThis study reviewed records of 70,000 adults who had non-urinary surgery under general anesthesia. It compared two drugs used to reverse muscle relaxants: sugammadex and neostigmine (given with atropine or glycopyrrolate). The goal was to see which drug is linked to fewer cases o…
Sponsor: Beth Israel Deaconess Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC