Clinical trial NCT03547297: INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP
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
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Acute Hepatic Porphyria
Hepatic Porphyrias
Acute Intermittent Porphyria (AIP)
Hereditary Coproporphyria (HCP)
Variegate Porphyria (VP)
ALA Dehydratase Deficient Porphyria (ADP)
Porphyria Acute
Keywords: Acute Hepatic Porphyria
Hepatic Porphyrias
Acute Intermittent Porphyria (AIP)
Hereditary Coproporphyria (HCP)
Variegate Porphyria (VP)
ALA Dehydratase Deficient Porphyria (ADP)
Porphyria Acute
Lead sponsor: Alnylam Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2018-06-06
Enrollment: 212
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.


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

Primary outcomes:
measure: 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)
timeFrame: 12 months
Secondary outcomes:
measure: Proportion of participants with AHPs that contain likely pathogenic mutation(s) in the presence of urinary ALA or PBG values above the ULN
timeFrame: 12 months
measure: Proportion of patients with pathogenic mutation(s) in the presence of urinary ALA and PBG values above the ULN
timeFrame: 12 months
measure: Proportion of patients with variants of unknown significance in the presence of urinary ALA and PBG values above the ULN
timeFrame: 12 months
measure: Proportion of patients with negative genetic tests in the presence of urinary ALA or PBG values above the ULN
timeFrame: 12 months
measure: Correlation of biochemical and genetic test results with severity of disease measured by symptom frequency and severity in the participant questionnaire
timeFrame: 12 months
measure: Correlation of biochemical and genetic test results with severity of disease measured by healthcare utilization in the participant questionnaire
timeFrame: 12 months
Other outcomes:
Locations:
city: Pasadena
country: United States
facility: Clinical Trial Site
state: California
city: Jacksonville
country: United States
facility: Clinical Trial Site
state: Florida
city: Margate
country: United States
facility: Clinical Trial Site
state: Florida
city: Ames
country: United States
facility: Clinical Trial Site
state: Iowa
city: Las Vegas
country: United States
facility: Clinical Trial Site
state: Nevada
city: Manhasset
country: United States
facility: Clinical Trial Site
state: New York
city: Winston-Salem
country: United States
facility: Clinical Trial Site
state: North Carolina
city: Pittsburgh
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Pottsville
country: United States
facility: Clinical Trial Site
state: Pennsylvania
city: Knoxville
country: United States
facility: Clinical Trial Site
state: Tennessee
city: Houston
country: United States
facility: Clinical Trial Site
state: Texas
city: Salt Lake City
country: United States
facility: Clinical Trial Site
state: Utah
Study officials:
affiliation: Alnylam Pharmaceuticals
name: Quinn Dinh, MD
role: STUDY_DIRECTOR
References: