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

Alnylam Pharmaceuticals1 site in 1 country212 target enrollmentMay 29, 2018

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

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Acute Hepatic Porphyria
Sponsor: Alnylam Pharmaceuticals
Enrollment: 212
Locations: 1
Primary Endpoint: 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)
Status: Terminated
Last Updated: 7 years ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

Brief Summary

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.

Registry

clinicaltrials.gov

Start Date

May 29, 2018

End Date

January 15, 2019

Last Updated

7 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Alnylam Pharmaceuticals

Responsible Party

Sponsor

Eligibility Criteria

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

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(12 months)
Proportion of patients with variants of unknown significance in the presence of urinary ALA and 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)
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 negative genetic tests in the presence of urinary ALA or PBG values above the ULN(12 months)