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

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 Overview

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

• Study Type: Observational
• Enrollment (Actual): 212

Contacts and Locations

Study Locations

• United States
  • California
    • Pasadena, California, United States, 91101
      • Clinical Trial Site
  • Florida
    • Jacksonville, Florida, United States, 32256
      • Clinical Trial Site
    • Margate, Florida, United States, 33063
      • Clinical Trial Site
  • Iowa
    • Ames, Iowa, United States, 50010
      • Clinical Trial Site
  • Nevada
    • Las Vegas, Nevada, United States, 89106
      • Clinical Trial Site
  • New York
    • Manhasset, New York, United States, 11030
      • Clinical Trial Site
  • North Carolina
    • Winston-Salem, North Carolina, United States, 27103
      • Clinical Trial Site
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15232
      • Clinical Trial Site
    • Pottsville, Pennsylvania, United States, 17901
      • Clinical Trial Site
  • Tennessee
    • Knoxville, Tennessee, United States, 37912
      • Clinical Trial Site
  • Texas
    • Houston, Texas, United States, 77025
      • Clinical Trial Site
  • Utah
    • Salt Lake City, Utah, United States, 84124
      • Clinical Trial Site

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Male and female participants age ≥ 16 years who present with symptoms consistent with Acute Hepatic Porphyria such as recurrent and severe episodes of abdominal pain.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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	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

Collaborators and Investigators

• Sponsor: Alnylam Pharmaceuticals
• Investigators: Study Director: Quinn Dinh, MD, Alnylam Pharmaceuticals

Study record dates

Study Major Dates

• Study Start (Actual): May 29, 2018
• Primary Completion (Actual): January 15, 2019
• Study Completion (Actual): January 15, 2019

Study Registration Dates

• First Submitted: May 18, 2018
• First Submitted That Met QC Criteria: June 4, 2018
• First Posted (Actual): June 6, 2018

Study Record Updates

• Last Update Posted (Actual): January 25, 2019
• Last Update Submitted That Met QC Criteria: January 24, 2019
• Last Verified: January 1, 2019

More Information

Terms related to this study

• Keywords: Acute Intermittent Porphyria (AIP); Hereditary Coproporphyria (HCP); Variegate Porphyria (VP); ALA Dehydratase Deficient Porphyria (ADP); Acute Hepatic Porphyria; Hepatic Porphyrias; Porphyria Acute
• Additional Relevant MeSH Terms: Digestive System Diseases; Metabolic Diseases; Skin Diseases; Liver Diseases; Genetic Diseases, Inborn; Skin Diseases, Genetic; Porphyrias, Hepatic; Porphyria, Erythropoietic; Porphyrias; Coproporphyria, Hereditary; Porphyria, Acute Intermittent; Porphyria, Variegate
• Other Study ID Numbers: ALN-AS1-NT-002

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No