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

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

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: January 15, 2019

Clinical Trial Outcome Measures

Primary Measures

  • 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 Measures

  • 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

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: 16 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Alnylam Pharmaceuticals
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Quinn Dinh, MD, Study Director, Alnylam Pharmaceuticals

Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.

At TrialBulletin.com, we keep tabs on over 200,000 clinical trials in the US and abroad, using medical data supplied directly by the US National Institutes of Health. Please see the About and Contact page for details.