About McCune-Albright Syndrome
McCune-Albright syndrome results from a somatic activating mutation in GNAS, encoding the Gsalpha subunit of heterotrimeric G-proteins, arising postzygotically and thus present in mosaic distribution throughout affected tissues. The classic triad consists of polyostotic fibrous dysplasia of bone (fibrous replacement of medullary bone predisposing to pathological fractures and deformity), cafe-au-lait skin macules with irregular borders, and autonomous endocrine hyperfunctioning of the gonads, thyroid, adrenal cortex, or pituitary. Clinical severity is highly variable and determined by the timing of the postzygotic mutation and the tissues in which the mutant clone is represented.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to McCune-Albright Syndrome trials.
Blood or tissue for GNAS mutation testing should ideally include DNA from affected tissue (bone or affected skin), as the mosaic mutation may not be detectable in peripheral blood leukocytes — clarify the testing source with the genetic laboratory.
Baseline bone scintigraphy (technetium scan) or skeletal survey documenting extent and distribution of fibrous dysplasia lesions is standard prior to enrolment in bone-targeted trials.
Endocrine assessments (LH, FSH, oestradiol or testosterone, IGF-1, thyroid function, morning cortisol) are required at screening as autonomous hyperfunctioning affects safety and efficacy endpoints.
Patient Resources
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