Clinical trials

Stargardt

Stargardt

STGD

  • Disease Summary: STGD is the most prevalent inherited macular dystrophy and is an autosomal recessive genetic disorder due to mutations in the ABCA4 gene characterized by progressive loss of central vision starting from childhood or adolescence, leading to profound vision loss. It is the most common form of inherited juvenile macular degeneration. 
  • Prevalence: STGD disease affects approximately 1:6,500 people.
  • Unmet need: high unmet need as there are no therapies currently available.

ABCA4 gene mutations cause STGD disease, characterized by degeneration of photoreceptors in the macula

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ABCA4 is preferentially expressed in photoreceptors. Mutations in the ABCA4 gene lead to accumulation of toxic lipofuscin, a non-degradable visual pigment derivative. Lipofuscin accumulation leads to cell atrophy and vision loss observed in the macula of Stargardt patients.

ABCA4 intein vectors reduce toxic lipofuscin in the retina of the STGD mouse model

Ref: Tornabene, Trapani et al. Sci Transl Med. 2019 May 15;11(492):eaav4523