Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
MONDO:0014455Also known as: CAGSSS, cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
19 clinical trials for this condition and its sub-types, 0 tagged with Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome itself.
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New drug aims to tame hard-to-control seizures in rare mitochondrial disorders
Disease control Stopped earlyThis study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …
Phase 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.
Knowledge-focused Stopped earlyThis study measures levels of a protein called NT-3 in the blood of people with peripheral neuropathy or Charcot-Marie-Tooth disease. Researchers will compare these levels with measures of muscle strength, mobility, and daily function. The goal is to see whether NT-3 levels corre…
Sponsor: Zarife Sahenk • Aim: Knowledge-focused
Last updated Jul 31, 2026 00:00 UTC