NCT03547297

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.

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
212

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started May 2018

Shorter than P25 for all trials

Geographic Reach
1 country

12 active sites

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

May 18, 2018

Completed
11 days until next milestone

Study Start

First participant enrolled

May 29, 2018

Completed
8 days until next milestone

First Posted

Study publicly available on registry

June 6, 2018

Completed
7 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 15, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 15, 2019

Completed
Last Updated

January 25, 2019

Status Verified

January 1, 2019

Enrollment Period

8 months

First QC Date

May 18, 2018

Last Update Submit

January 24, 2019

Conditions

Acute Hepatic PorphyriaHepatic PorphyriasAcute Intermittent Porphyria (AIP)Hereditary Coproporphyria (HCP)Variegate Porphyria (VP)ALA Dehydratase Deficient Porphyria (ADP)Porphyria Acute

Keywords

Acute Hepatic PorphyriaHepatic PorphyriasAcute Intermittent Porphyria (AIP)Hereditary Coproporphyria (HCP)Variegate Porphyria (VP)ALA Dehydratase Deficient Porphyria (ADP)Porphyria Acute

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (6)

  • 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

  • +1 more secondary outcomes

Eligibility Criteria

Age16 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

  • ≥ 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

You may not qualify if:

  • Known diagnosis of AHP
  • Alternative explanation for abdominal pain with clinical response to treatment specific for alternative diagnosis

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (12)

Clinical Trial Site

Pasadena, California, 91101, United States

Location

Clinical Trial Site

Jacksonville, Florida, 32256, United States

Location

Clinical Trial Site

Margate, Florida, 33063, United States

Location

Clinical Trial Site

Ames, Iowa, 50010, United States

Location

Clinical Trial Site

Las Vegas, Nevada, 89106, United States

Location

Clinical Trial Site

Manhasset, New York, 11030, United States

Location

Clinical Trial Site

Winston-Salem, North Carolina, 27103, United States

Location

Clinical Trial Site

Pittsburgh, Pennsylvania, 15232, United States

Location

Clinical Trial Site

Pottsville, Pennsylvania, 17901, United States

Location

Clinical Trial Site

Knoxville, Tennessee, 37912, United States

Location

Clinical Trial Site

Houston, Texas, 77025, United States

Location

Clinical Trial Site

Salt Lake City, Utah, 84124, United States

Location

MeSH Terms

Conditions

Coproporphyria, HereditaryPorphyrias, HepaticPorphyria, Acute IntermittentPorphyria, Variegate

Condition Hierarchy (Ancestors)

Liver DiseasesDigestive System DiseasesSkin Diseases, GeneticGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin DiseasesSkin and Connective Tissue DiseasesPorphyriasMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Quinn Dinh, MD

    Alnylam Pharmaceuticals

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 18, 2018

First Posted

June 6, 2018

Study Start

May 29, 2018

Primary Completion

January 15, 2019

Study Completion

January 15, 2019

Last Updated

January 25, 2019

Record last verified: 2019-01

Locations

US(12)