Clinical Diagnosis of Acute Porphyria

Brief Title

Clinical Diagnosis of Acute Porphyria

Official Title

Clinical Diagnosis of Acute Porphyria

Brief 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
    

Study Type

Observational

Primary Outcome

Presence of positive biochemical features by first-line testing in subjects suspected of being a genetic carrier of acute porphyria

Secondary Outcome

 Frequency of disease manifestations in genetically confirmed AIP and HCP

Condition

Hereditary Coproporphyria (HCP)

Study Arms / Comparison Groups

 Group 1

Description:  Group 1 will include subjects 15 years of age or older who are a first-degree relative (child, sibling, parent, or grandparent) of an individual with genetically proven acute porphyria (AIP, HCP or VP), and have not had any previous genetic testing for porphyria themselves.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Estimated Enrollment

148

Start Date

December 2011

Completion Date

December 2018

Primary Completion Date

December 2018

Eligibility Criteria

        Group 1 Inclusion Criteria:

          -  Be 15 years of age or older

          -  Be a first-degree relative (child, sibling, parent, or grandparent) of an individual
             with genetically proven acute porphyria (AIP, HCP or VP)

          -  Not have had any previous genetic testing for acute porphyria

        Group 2 Inclusion Criteria:

          -  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.

          -  An increase in urinary, fecal or serum porphobilinogen (PBG) and/or porphyrins

        Groups 1 and 2 Exclusion Criteria:

          -  Have previously had genetic testing for acute porphyria

          -  Have a history of "alarm" symptoms, such as anemia, unintentional weight loss, signs
             of GI (gastrointestinal) bleeding, or dysphagia (difficulty in swallowing).

        Follow Up Sub-Study (Group 3) Inclusion Criteria:

          -  Have been seen by one of the Porphyria Consortium physicians/investigators 10 or more
             years prior to study initiation

          -  Had a slight increase in porphyrins during the initial visit

          -  Not given a diagnosis of porphyria at the time of the visit

        Follow Up Sub-Study (Group 3) Exclusion Criteria:

          -  You have been seen by the Porphyria Consortium physician/investigator less than 10
             years prior to study initiation.
      

Gender

All

Ages

15 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Bruce Wang, M.D., , 

Location Countries

United States

Location Countries

United States

NCT ID

NCT01568554

Organization ID

PC7204

Secondary IDs

1U54DK083909

Responsible Party

Sponsor

Study Sponsor

University of California, San Francisco

Collaborators

 University of Texas

Study Sponsor

Bruce Wang, M.D., Study Chair, University of California at San Francisco

Verification Date

September 2021