Aniridia is a devastating ocular disease requiring intensive eye care, social and community support from birth and throughout an individual’s lifetime.

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WG2: Clinical and Cohort Studies

WG2: Clinical and Cohort Studies

Clinical and Cohort Studies: combining patient cohorts for multi-centre clinical studies, combining tissue/blood/tear samples for biomarker, genetic and high-throughput molecular analysis.

Tasks:

  • Identify reference centers across Europe treating aniridia patients.
  • Design of a prospective clinical study to benefit aniridic patients across Europe.
  • Share resources in tissue/blood/tear samples for biomarker, genetic and high-throughput molecular analysis.

Deliverables:

  • Plan/protocol for clinical study with multiple aniridia cohorts/centres (eg., new aniridia-associated keratopathy therapies).
  • Common harmonized protocol for centralized biobanking of patient samples.

WG2 Leader: Dr Vito ROMANO (wg2@aniridia-net.eu)

Limbal stem cell deficiency and subsequent keratopathy in a patient suffering from congenial aniridia.