The purpose of this study is to test whether a focused questionnaire and laboratory tests can better define risk factors associated with possible genetic porphyria. The investigators hypothesize that the genetic carrier state of acute porphyria is distinctive enough that the Genetic Carrier Profile the investigators devise through this study will be useful in identifying carriers of genetic porphyria among the large population with undiagnosed abdominal pain.
Age range
15 Years
Sex
ALL
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Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Presence of positive biochemical features by first-line testing in subjects suspected of being a genetic carrier of acute porphyria
Timeframe: Assessed once at baseline visit for all subjects
Presence of positive biochemical features by second-line testing in subjects suspected of being a genetic carrier of acute porphyria
Timeframe: Assessed once at baseline visit for all subjects
Presence of positive biochemical features by second-line testing in subjects suspected of being a genetic carrier of acute porphyria
Timeframe: Assessed once at baseline visit for all subjects
Clinical features suggestive of the acute porphyria carrier state
Timeframe: Assessed once at baseline visit for all subjects
Acute porphyria genetic carrier state
Timeframe: Assessed once at baseline visit for all subjects
Other possible causes of mildly elevated porphyrins and recurrent pain
Timeframe: Assessed once during a one-time telephone or in-person interview
Presence of heavy metals
Timeframe: Assessed once at baseline visit for all subjects
Validity of Genetic Carrier Profile
Timeframe: The profile will be tested once during the baseline visit for subjects in Group 2.