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

Acute Hepatic Porphyria Clinical Trial

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT03547297
• Other study ID #: ALN-AS1-NT-002
• Status: Terminated
• Start date: May 29, 2018
• Est. completion date: January 15, 2019

Study information

• Verified date: January 2019
• Source: Alnylam Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 212
• Est. completion date: January 15, 2019
• Est. primary completion date: January 15, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 16 Years and older

Eligibility

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

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
United States	Clinical Trial Site	Ames	Iowa
United States	Clinical Trial Site	Houston	Texas
United States	Clinical Trial Site	Jacksonville	Florida
United States	Clinical Trial Site	Knoxville	Tennessee
United States	Clinical Trial Site	Las Vegas	Nevada
United States	Clinical Trial Site	Manhasset	New York
United States	Clinical Trial Site	Margate	Florida
United States	Clinical Trial Site	Pasadena	California
United States	Clinical Trial Site	Pittsburgh	Pennsylvania
United States	Clinical Trial Site	Pottsville	Pennsylvania
United States	Clinical Trial Site	Salt Lake City	Utah
United States	Clinical Trial Site	Winston-Salem	North Carolina

Sponsors (1)

Lead Sponsor	Collaborator
Alnylam Pharmaceuticals

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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
Secondary	Proportion of patients with pathogenic mutation(s) in the presence of urinary ALA and PBG values above the ULN		12 months
Secondary	Proportion of patients with variants of unknown significance in the presence of urinary ALA and PBG values above the ULN		12 months
Secondary	Proportion of patients with negative genetic tests in the presence of urinary ALA or PBG values above the ULN		12 months
Secondary	Correlation of biochemical and genetic test results with severity of disease measured by symptom frequency and severity in the participant questionnaire		12 months
Secondary	Correlation of biochemical and genetic test results with severity of disease measured by healthcare utilization in the participant questionnaire		12 months