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
36 clinical trials for this condition and its sub-types.
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Broader categories
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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: PHASE1, PHASE2 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 13:07 UTC
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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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
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Free eye tests aim to catch vision loss early in harlem and washington heights
Knowledge-focused OngoingThis study offers free vision screenings to underserved adults over 40 living in affordable housing in Harlem and Washington Heights. The goal is to find eye problems like glaucoma, cataracts, and diabetic retinopathy early and connect people with follow-up care. About 749 partic…
Phase: NA • Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC