The Porphyrias Consortium

7204: Clinical Diagnosis of Acute Porphyria

Status: Recruiting for Group 1. We are not recruiting for Group 2 yet.

For Diseases:

Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), and Variegate Porphyria (VP)


The acute porphyrias consist of Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), and Variegate Porphyria (VP). They are often difficult to diagnose because the symptoms may not be specific. The purpose of this study is to test whether a focused questionnaire and laboratory evaluations can better define risk factors associated with possible genetic porphyria. The goals of this study are:

  • To determine whether first degree family members of patients with genetically-confirmed acute porphyria have symptoms and laboratory findings.
  • To devise a Genetic Carrier Profile that could be used to screen people in whom the diagnosis of porphyria is being considered.

About this Study

This is an observational study consisting of one visit. Approximately 100 people will participate in Group 1. We do not yet know how many people will participate in Group 2.

Group 1:
We will enroll individuals who are first-degree relatives (child, sibling, or parent) of a patient with a genetically-confirmed diagnosis of one of the acute porphyrias (called the index case). We are interested in all three types of acute porphyria: Acute Intermittent Porphyria (AIP), Hereditary Corproporphyria (HCP) or Variegate Porphyria (VP). Participants (the first-degree relatives) must not have had any genetic testing in the past. They will have a study visit during which they will complete a history questionnaire and have routine laboratory tests, including genetic testing for the acute porphyria mutation that is in their family. The researchers will use this data to develop a Clinical Profile of the risk factors associated with being a genetic carrier of acute porphyria.

Group 2:
Researchers will test the validity of the Clinical Profile. This part of the study will include subjects who are thought to possibly have AIP, VP or HCP, but do not have a confirmed diagnosis based on genetic testing.

All participants who are found to have acute porphyria based on the genetic testing results will be offered participation in the Longitudinal Study of the Porphyrias. Subjects who are found not to have acute porphyria will have only the first visit. There is no interventional treatment involved with this study.

Targeted Enrollment

To be eligible to participate in Part 1, you must:

  • Be 15 years of age or older
  • Be a first-degree relative (child, sibling, or parent) of an individual with genetically confirmed acute porphyria (AIP, HCP or VP)
  • Not have had any previous genetic testing for acute porphyria

To be eligible to participate in Part 2, you must:

  • Be 15 years of age or older
  • Have a history of suggestive clinical features, such as abdominal, back or limb pain, recurrent nausea lasting days, reaction to medications, psychiatric history, or sun sensitivity, with negative tests for a specific diagnosis
  • An increase in any porphyria screening tests (i.e. total urinary porphyrins, plasma porphyrins, fecal porphyrins, etc) performed within two years of your participation in this study

You are not eligible to participate in Groups 1 and 2 of this study if:

  • You have previously had genetic testing for acute porphyria
  • You have a history of the following conditions:
    • Anemia (Hemoglobin <10 g/dL)
    • Unintentional weight loss
    • Signs of GI (gastrointestinal) bleeding
    • Dysphagia (difficulty in swallowing)
    • Hematurina (blood in the urine)

How to participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.


University of Alabama at Birmingham
Toni Seay
(205) 934-7332


University of California at San Francisco
Research Coordinator: Yuvraaj Kapoor
Phone: (415) 476-8405

New York

Ichan School of Medicine at Mount Sinai, New York City
Hetanshi Naik
(212) 241-6711

North Carolina

Wake Forest School of Medicine, Winston-Salem
Dee Faust, Coordinator


University of Texas Medical Branch, Galveston
Csilla Hallberg, MD
(409) 772-4661


University of Utah, Salt Lake City
Sharada Dixit, Study Coordinator


The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.