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

Alnylam Pharmaceuticals212 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

212

Conditions

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

Eligibility

Medical Language ↔ Plain English

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

Locations (12)

Clinical Trial Site

Pasadena, California, United States

Clinical Trial Site

Jacksonville, Florida, United States

Clinical Trial Site

Margate, Florida, United States

Clinical Trial Site

Ames, Iowa, United States

Clinical Trial Site

Las Vegas, Nevada, United States

Clinical Trial Site

Manhasset, New York, United States

Clinical Trial Site

Winston-Salem, North Carolina, United States

Clinical Trial Site

Pittsburgh, Pennsylvania, United States

Clinical Trial Site

Pottsville, Pennsylvania, United States

Clinical Trial Site

Knoxville, Tennessee, United States

...and 2 more locations

Outcomes

Primary Outcomes

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)

Time frame: 12 months

Secondary Outcomes

Proportion of participants with AHPs that contain likely pathogenic mutation(s) in the presence of urinary ALA or PBG values above the ULN

Time frame: 12 months

Proportion of patients with pathogenic mutation(s) in the presence of urinary ALA and PBG values above the ULN

Time frame: 12 months

Proportion of patients with variants of unknown significance in the presence of urinary ALA and PBG values above the ULN

Time frame: 12 months

Proportion of patients with negative genetic tests in the presence of urinary ALA or PBG values above the ULN

Time frame: 12 months

Correlation of biochemical and genetic test results with severity of disease measured by symptom frequency and severity in the participant questionnaire

Time frame: 12 months

Correlation of biochemical and genetic test results with severity of disease measured by healthcare utilization in the participant questionnaire

Time frame: 12 months