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COFS syndrome

MONDO:0008926

Cerebrooculofacioskeletal (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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Sub-types

Cerebrooculofacioskeletal syndrome 1 (0) Cerebrooculofacioskeletal syndrome 2 (0) Cerebrooculofacioskeletal syndrome 3 (0) Cerebrooculofacioskeletal syndrome 4 (0) Xeroderma pigmentosum group G (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Eye disorder (97) Inborn errors of metabolism (42) Syndromic disease (24) Human disease (14) DNA repair disease (11) Microphthalmia (5) Autosomal recessive disease (4)

Trials to join now! 20 Not yet recruiting 3 Not yet finished but already full! 6 Completed 6 Terminated 1

VR headsets tested as a possible treatment for blindness

Disease control Terminated

This study tested whether using a virtual reality headset for one-hour sessions could help regenerate damaged optic nerves and improve vision in people with glaucoma or other retinal diseases. The idea came from promising results in rodents. However, the trial was terminated earl…

Phase: NA • Sponsor: Stanford University • Aim: Disease control

Last updated Jun 27, 2026 08:03 UTC