NCT01568554

Clinical Diagnosis of Acute Porphyria

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 148 (actual)
• Sponsor: University of California, San Francisco · Academic / Other
• Sex: All
• Age: 15 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

The porphyrias are a group of genetic diseases caused by disturbances in the formation of heme, an essential component of hemoglobin and other proteins, leading to either acute (neurologic) and/or chronic (cutaneous) symptoms. Acute porphyria is often difficult to diagnose because symptoms may not be specific and, unless the patient is in an active attack, laboratory values typically may not be useful for diagnosing porphyria. The purpose of this study is to test whether a focused questionnaire and laboratory evaluation tool can better define risk factors associated with possible genetic porphyria. The goals of this study are: * To determine the presence and number of abnormal lab tests and porphyria-like symptoms in adult family members of the first person in a family who has been diagnosed with a disease of acute porphyria, 50% of whom are expected to carry the same genetic defect of the index case. * To devise a Genetic Carrie Profile that could be used to screen people in whom the diagnosis of porphyria is being considered. * To test the Profile in patients with symptoms suggestive of HCP and/or urine tests showing some elevation of porphyrins. * To explain other possible causes of minor increases in porphyrin levels in patients with recurrent abdominal pain who have not been diagnosed with porphyria

Conditions

• Hereditary Coproporphyria (HCP)
• Acute Intermittent Porphyria (AIP)
• Variegate Porphyria (VP)

Timeline

• Start date: 2011-12-01
• Primary completion: 2018-12-01
• Completion: 2018-12-01
• First posted: 2012-04-02
• Last updated: 2021-09-28

Locations

6 sites across 1 country: United States