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Risk Factors of Porphyria Incidence and Severity --- Patient Perspectives and the International Porphyria Network.

Health-Related Quality Of Life | Genetic Testing | Porphyria

Porphyrias are a group of rare disorders caused by dysfunction in heme synthesis. This dysfunction causes a build-up of molecules called porphyrins or their precursors leading to serious consequences. The rarity of porphyrias means patient perspectives are lacking. Our investigation seeks to remedy this by having porphyria patients fill out questionnaires. Genetic testing will also be conducted to identify risk factors in porphyria incidence/severity. To supplement, we will be drawing on data from the International Porphyria Network (IPNet) to corroborate our findings. Our findings combined with IPNet data will lead to more comprehensive porphyria treatment/management plans and uncover risk factors in porphyria incidence/severity.

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Participation Requirements

  • Sex:

    Any

  • Eligible Ages:

    0 and up

Participation Criteria

Inclusion Criteria:
The inclusion criteria include:

Patients diagnosed with porphyria at the Dr. John Akabutu Centre for Rare Blood and Bleeding Disorders 

Patient has provided informed consent
Exclusion Criteria:
Patients will be excluded if they are NOT willing to consent to inclusion or are not diagnosed with porphyria according to standard clinical diagnosis.

Study Location

University of Alberta
University of Alberta
Edmonton, Alberta
Canada

Contact Study Team

Primary Contact

Bruce Ritchie

[email protected]
780-407-8822
Study Sponsored By
University of Alberta
Participants Required
More Information
Study ID: Pro00097556