INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

Study Overview
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Brief Summary
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This study will use specific diagnostic tests on a group of patients who are experiencing symptoms typical of acute hepatic porphyria (AHP) to determine how many have the condition, and to potentially help improve the diagnostic process for patients in the future.

Official Title
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INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

Conditions
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Acute Hepatic Porphyria, Hepatic Porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), ALA Dehydratase Deficient Porphyria (ADP), Porphyria Acute

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: ≥ 16 years of age Recurrent and severe episodes of abdominal pain that last for at least 24 hours At least 1 episode of severe abdominal pain that required an urgent healthcare visit in the past 12 months Other symptoms related to AHP that your doctor will discuss with you Willing and able to comply with protocol required assessments and provide written informed consent Exclusion Criteria: Known diagnosis of AHP Alternative explanation for abdominal pain with clinical response to treatment specific for alternative diagnosis

Ages Eligible for Study
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Minimum Age: 16 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Proportion of participants with current or past clinically symptomatic AHP with urinary aminolevulinic acid (ALA) or porphobilinogen (PBG) values above the upper limit of normal (ULN) |  | 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Proportion of participants with AHPs that contain likely pathogenic mutation(s) in the presence of urinary ALA or PBG values above the ULN |  | 12 months | 
| Proportion of patients with pathogenic mutation(s) in the presence of urinary ALA and PBG values above the ULN |  | 12 months | 
| Proportion of patients with variants of unknown significance in the presence of urinary ALA and PBG values above the ULN |  | 12 months | 
| Proportion of patients with negative genetic tests in the presence of urinary ALA or PBG values above the ULN |  | 12 months | 
| Correlation of biochemical and genetic test results with severity of disease measured by symptom frequency and severity in the participant questionnaire |  | 12 months | 
| Correlation of biochemical and genetic test results with severity of disease measured by healthcare utilization in the participant questionnaire |  | 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Acute Hepatic Porphyria, Hepatic Porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), ALA Dehydratase Deficient Porphyria (ADP), Porphyria Acute