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

Terminated

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

• Registration Number: NCT03547297
• Lead Sponsor: Alnylam Pharmaceuticals

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2018-05-18
• Study Start: 2018-05-29
• Study First Submitted QC: 2018-06-04
• Study First Posted: 2018-06-06
• Status Verified: 2019-01
• Primary Completion: 2019-01-15
• Study Completion: 2019-01-15
• Last Update Submitted: 2019-01-24
• Last Update Posted: 2019-01-25

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 212

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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

Name	Time	Method
Proportion of patients with variants of unknown significance in the presence of urinary ALA and PBG values above the ULN	12 months
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
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

Trial Locations

Locations (1)

Clinical Trial Site; 🇺🇸 Salt Lake City, Utah, United States