HISTORY: Plasminogen Deficiency Natural History Study

• Research type

  Research Study

• Full title

  Hypoplasminogenemia: An International RetroSpecTive and PrOspective CohoRt StudY (HISTORY)

• IRAS ID

  327905

• Contact name

  Amy Shapiro

• Contact email

  ashapiro@IHTC.org

• Sponsor organisation

  Indiana Hemophilia and Thrombosis Center, Indianapolis, Indiana, US

• Duration of Study in the UK

  3 years, 10 months, 0 days

• Research summary

  Plasminogen (PLG) deficiency (PLGD) is an extremely rare inherited chronic disorder, affecting ~1.6 per million population. The disease is associated with uncontrolled growth of fibrin-rich pseudomembranes on mucous membranes of eyes, oral cavity and middle ears as well as respiratory, female genitourinary, gastrointestinal and renal (kidney) tracts, central nervous system (hydrocephalus), and skin lesions. These events are associated with morbidity and potential mortality. Ligneous conjunctivitis (lesions of wood-like consistency that develop mainly on the underside of the eyelid) is the most common manifestation and may lead to vision impairment/loss.
  HISTORY is the first comprehensive retrospective/prospective international registry created to investigate PLGD natural history, and ultimately develop severity categories and treatment guidelines. Up to 100 affected individuals with their 1st degree non-affected family members will be enrolled.

• REC name

  South West - Cornwall & Plymouth Research Ethics Committee

• REC reference

  23/SW/0094

• Date of REC Opinion

  10 May 2024

• REC opinion

  Further Information Favourable Opinion