The purpose of this study is to collect information on acute porphyria attacks that may have been caused by a medication. Individuals who have tested positive for an acute porphyria, or have been told by a doctor that they may have the disease, and who are registered with the RDCRN Porphyrias Consortium Contact Registry (see below) may join this study. We are particularly interested in the following: (1) Attacks that appeared to be due to a specific medication; (2) Use of a medication that is considered risky in porphyria but caused no problems; and (3) Use of medications for which the safety profile in porphyria is unknown.
- Acute Intermittent Porphyria (AIP)
- Variegate Porphyria (VP)
- Hereditary Coproporphyria (HCP)
The acute hepatic porphyrias (AHPs) are genetic disorders of heme formation and in many people are clinically asymptomatic. When attacks do occur, they can be caused by certain medications. The goal of this project is to create an updated list of medications that are risky or safe for people with one of the acute porphyrias.
This is an online study in which patients with acute porphyria or their caregivers submit surveys about their acute porphyria diagnosis and medication use, specifically medications that may have caused acute attacks, or “risky” medications that were taken safely. Participants are encouraged to update their surveys when they have new information to report. Participants must be 18 years or older.
To be eligible to participate, you must:
- Be enrolled in the RDCRN Porphyrias Consortium Contact Registry
- Have one of the acute porphyrias, or be suspected of having one by your provider
- Be able to read and write in English
You are not eligible to participate if:
- You are not able to provide informed consent and complete the online surveys
The study is open to everyone enrolled in the RDCRN Porphyrias Consortium Contact Registry. If you have not joined the Contact Registry, you can do so here: https://www.rarediseasesnetwork.org/cms/porphyrias/registry