Clinical trial NCT03906214: Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria
Official title: Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Porphyrias
Keywords: Porphyrias
Variegate Porphyria
Hereditary Coproporphyria
Acute Intermittent Porphyria
Lead sponsor: University of South Florida
Sponsor class: OTHER
Collaborators: name: University of Texas
name: Wake Forest University Health Sciences
name: University of Miami
name: University of Washington
name: Icahn School of Medicine at Mount Sinai
name: University of Alabama at Birmingham
name: University of California, San Francisco
name: University of Utah
name: National Institutes of Health (NIH)
First posted: 2019-04-08
Enrollment: 60
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants will be recruited through the RDCRN Contact Registry for the Porphyrias Consortium.

Brief summary: This is an observational study collecting patient/caregiver reports on suspected medication/drug-induced acute porphyria attacks, as well as safe use of drugs previously labeled "unsafe" or with unknown risk. Participants will be recruited through the RDCRN Contact Registry for the Porphyrias Consortium. The study will be advertised on the Consortium website and through the American Porphyria Foundation's social media network.

Detailed description: Contact Registrants will be sent an email invitation describing the study. A unique link will be generated for each registrant and included in the email invitation. After 2 weeks, a second email invitation will be sent to the registrants who have not yet participated. After 1 month, a third email invitation will be sent to the registrants who have not yet participated. We may send additional emails periodically (e.g. every 6-12 months) to subjects enrolled to remind them to complete new surveys if they have taken any other medications of interest or have experienced any new reactions/attacks.

If the registrant wants to participate in the study, he/she will follow the survey link in the email invitation, which directs him/her to an IRB-approved online consent form. If the participant consents to participate, he/she will be directed to online forms to report general information (ex. age, sex, test results, family history), suspected medication-related acute attacks, and "uneventful use of possibly risky medication". If a patient has multiple medication-related acute attacks, the patient/caregiver will be able to submit multiple report forms that will be linked. In addition to the report forms, patients will be asked to review a list of "Medications of Interest" and report current or past use.

Eligibility criteria: Inclusion Criteria:

* Able to read and write in English
* Enrolled in the RDCRN PC Contact Registry
* Self-reported patient or caregiver of patient with acute porphyria

There are no restrictions on age, sex or ethnicity. However, the following criteria will be applied to those reports that are considered evaluable (analyzed and scored):

1. Medication name must be specified
2. The data elements required in the scoring system must be complete

Exclusion Criteria:

* Unable to provide informed consent and complete forms

Primary outcomes:
measure: Acute Attack Form
timeFrame: 5 years from study start
measure: Uneventful Use of Possible Risky Medication Form
timeFrame: 5 years from study start
measure: Use of Medications of Interest Form
timeFrame: 5 years from study start
Secondary outcomes:
Other outcomes:
Locations:
city: Tampa
country: United States
facility: University of South Florida Data Management Coordinating Center
state: Florida
Study officials:
affiliation: University of California, San Francisco
name: D. Montgomery Bissell, MD
role: STUDY_CHAIR
affiliation: University of California, San Francisco
name: Bruce Wang, MD
role: STUDY_CHAIR
References:
citation: Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005 Mar 15;142(6):439-50. doi: 10.7326/0003-4819-142-6-200503150-00010.
citation: de Matteis F. Disturbances of liver porphyrin metabolism caused by drugs. Pharmacol Rev. 1967 Dec;19(4):523-57. No abstract available.
citation: Seth AK, Badminton MN, Mirza D, Russell S, Elias E. Liver transplantation for porphyria: who, when, and how? Liver Transpl. 2007 Sep;13(9):1219-27. doi: 10.1002/lt.21261.
citation: Slavin SA, Christoforides C. Thiopental administration in acute intermittent porphyria without adverse effect. Anesthesiology. 1976 Jan;44(1):77-9. doi: 10.1097/00000542-197601000-00021. No abstract available.
citation: Thunell S, Pomp E, Brun A. Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. Br J Clin Pharmacol. 2007 Nov;64(5):668-79. doi: 10.1111/j.0306-5251.2007.02955.x. Epub 2007 Jun 19.