About Kennedy Disease
Kennedy Disease, or Spinal and Bulbar Muscular Atrophy, is an X-linked motor neuron disease caused by a CAG trinucleotide repeat expansion in exon 1 of the androgen receptor (AR) gene, resulting in toxic gain-of-function of the mutant polyglutamine-expanded AR protein in motor neurons and muscles. It affects only males (females are carriers) and is characterised by progressive limb and bulbar muscle weakness, androgen insensitivity features, and sensory neuronopathy. Disease progression is slow compared to ALS.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Kennedy Disease trials.
Genetic confirmation of CAG repeat length in the AR gene (≥38 repeats) is required; repeat length correlates inversely with age of onset and may be a stratification variable in trials
Testosterone levels are frequently collected as a pharmacodynamic biomarker; baseline hormonal profile including LH, FSH, and testosterone should be documented
SBMA Functional Rating Scale (SBMAFRS) and 40-metre walk test are standard clinical endpoints; formal neuromuscular assessment documentation strengthens your application
Patient Resources
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