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Clinical Diagnosis of Acute Porphyria

NCT01568554 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 148

Last updated 2021-09-28

No results posted yet for this study

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.

Conditions

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

Sponsors & Collaborators

Principal Investigators

  • Bruce Wang, M.D. · University of California at San Francisco

  • Karl E. Anderson, M.D. · University of Texas

  • Joseph R. Bloomer, M.D. · University of Alabama at Birmingham

  • Robert J. Desnick, Ph.D., M.D. · Icahn School of Medicine at Mount Sinai

  • James P. Kushner, M.D. · University of Utah

  • Herbert L. Bonkovsky, M.D. · Carolinas Medical Center and HealthCare System

Eligibility

Min Age
15 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-12-31
Primary Completion
2018-12-31
Completion
2018-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01568554 on ClinicalTrials.gov