Acute Intermittent Porphyria (AIP) Clinical Trial
Official title:
Clinical Diagnosis of Acute Porphyria
Verified date | September 2021 |
Source | University of California, San Francisco |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 148 |
Est. completion date | December 2018 |
Est. primary completion date | December 2018 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 15 Years and older |
Eligibility | 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. |
Country | Name | City | State |
---|---|---|---|
United States | UAB Porphyria Center, University of Alabama at Birmingham | Birmingham | Alabama |
United States | UTMB Porphyria Center, University of Texas Medical Branch | Galveston | Texas |
United States | Mount Sinai Porphyria Comprehensive Diagnostic & Treatment Center, Mount Sinai School of Medicine | New York | New York |
United States | Porphyria Center, University of Utah | Salt Lake City | Utah |
United States | UCSF Porphyria Center, University of California at San Francisco | San Francisco | California |
United States | Wake Forest University School of Medicine | Winston-Salem | North Carolina |
Lead Sponsor | Collaborator |
---|---|
University of California, San Francisco | Carolinas Medical Center, Icahn School of Medicine at Mount Sinai, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Rare Diseases Clinical Research Network, University of Alabama at Birmingham, University of Texas, University of Utah |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Presence of positive biochemical features by first-line testing in subjects suspected of being a genetic carrier of acute porphyria | All subjects will be assessed for any elevation of quantitative urine porphobilinogen (PBG). | Assessed once at baseline visit for all subjects | |
Primary | Presence of positive biochemical features by second-line testing in subjects suspected of being a genetic carrier of acute porphyria | All subjects will be assessed for any elevations of fractionated quantitative urine porphyrins. | Assessed once at baseline visit for all subjects | |
Primary | Presence of positive biochemical features by second-line testing in subjects suspected of being a genetic carrier of acute porphyria | All subjects will be assessed for any elevations and levels of fractionated quantitative fecal porphyrins. | Assessed once at baseline visit for all subjects | |
Primary | Clinical features suggestive of the acute porphyria carrier state | Through a focused questionnaire, we will determine the typical duration of pain attacks. | Assessed once at baseline visit for all subjects | |
Primary | Acute porphyria genetic carrier state | All subjects will undergo DNA analysis to detect a mutation in the HMBS, CPOX, or PPOX genes, respectively. | Assessed once at baseline visit for all subjects | |
Primary | Other possible causes of mildly elevated porphyrins and recurrent pain | Participants in the Follow-up Sub-study section of this protocol will be interviewed concerning other possible causes of mildly elevated porphyins and recurrent pain. These will be patients previously seen by the investigator who were deemed not to have porphyria. | Assessed once during a one-time telephone or in-person interview | |
Primary | Presence of heavy metals | All subjects will undergo a blood test to screen for the presence of heavy metals as a cause for minor elevations of porphyrin levels. | Assessed once at baseline visit for all subjects | |
Primary | Validity of Genetic Carrier Profile | The biochemical and clinical features of genetically proven but asymptomatic HCP will be tabulated and compared to subjects who are not genetic carriers. Its accuracy in predicting risk factors for HCP will be tested in subjects in Group 2. | The profile will be tested once during the baseline visit for subjects in Group 2. | |
Secondary | Frequency of disease manifestations in genetically confirmed AIP and HCP | Subjects who are confirmed to have AIP and HCP will be assessed at annual follow up visits for the presence and frequency of porphyria symptoms. | Assessed annually for 5 years | |
Secondary | Prevalence of HCP in a population with elevation of urine coproporphyrin and pain symptoms. | Based on the number of subjects in Group 2 determined by DNA analysis to have HCP, we will approximate the prevalence of HCP in a population with elevations in coproporphyrin and pain symptoms that are undiagnosed. | Assessed once enrollment and genetic testing of subjects in Group 2 are complete - after a 1-year recruitment and enrollment period. |
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