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Trial record 16 of 17 for:    acute porphyria | "Acute intermittent porphyria"

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

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ClinicalTrials.gov Identifier: NCT03547297
Recruitment Status : Terminated (Sponsor elected not to continue with study)
First Posted : June 6, 2018
Last Update Posted : January 25, 2019
Sponsor:
Information provided by (Responsible Party):
Alnylam Pharmaceuticals

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.

Condition or disease
Acute Hepatic Porphyria Hepatic Porphyrias Acute Intermittent Porphyria (AIP) Hereditary Coproporphyria (HCP) Variegate Porphyria (VP) ALA Dehydratase Deficient Porphyria (ADP) Porphyria Acute

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Study Type : Observational
Actual Enrollment : 212 participants
Observational Model: Cohort
Time Perspective: Prospective
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
Actual Study Start Date : May 29, 2018
Actual Primary Completion Date : January 15, 2019
Actual Study Completion Date : January 15, 2019





Primary Outcome Measures :
  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) [ Time Frame: 12 months ]

Secondary Outcome Measures :
  1. 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 ]
  2. Proportion of patients with pathogenic mutation(s) in the presence of urinary ALA and PBG values above the ULN [ Time Frame: 12 months ]
  3. Proportion of patients with variants of unknown significance in the presence of urinary ALA and PBG values above the ULN [ Time Frame: 12 months ]
  4. Proportion of patients with negative genetic tests in the presence of urinary ALA or PBG values above the ULN [ Time Frame: 12 months ]
  5. 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 ]
  6. Correlation of biochemical and genetic test results with severity of disease measured by healthcare utilization in the participant questionnaire [ Time Frame: 12 months ]


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Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03547297


Locations
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United States, California
Clinical Trial Site
Pasadena, California, United States, 91101
United States, Florida
Clinical Trial Site
Jacksonville, Florida, United States, 32256
Clinical Trial Site
Margate, Florida, United States, 33063
United States, Iowa
Clinical Trial Site
Ames, Iowa, United States, 50010
United States, Nevada
Clinical Trial Site
Las Vegas, Nevada, United States, 89106
United States, New York
Clinical Trial Site
Manhasset, New York, United States, 11030
United States, North Carolina
Clinical Trial Site
Winston-Salem, North Carolina, United States, 27103
United States, Pennsylvania
Clinical Trial Site
Pittsburgh, Pennsylvania, United States, 15232
Clinical Trial Site
Pottsville, Pennsylvania, United States, 17901
United States, Tennessee
Clinical Trial Site
Knoxville, Tennessee, United States, 37912
United States, Texas
Clinical Trial Site
Houston, Texas, United States, 77025
United States, Utah
Clinical Trial Site
Salt Lake City, Utah, United States, 84124
Sponsors and Collaborators
Alnylam Pharmaceuticals
Investigators
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Study Director: Quinn Dinh, MD Alnylam Pharmaceuticals

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Responsible Party: Alnylam Pharmaceuticals
ClinicalTrials.gov Identifier: NCT03547297     History of Changes
Other Study ID Numbers: ALN-AS1-NT-002
First Posted: June 6, 2018    Key Record Dates
Last Update Posted: January 25, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Alnylam Pharmaceuticals:
Acute Hepatic Porphyria
Hepatic Porphyrias
Acute Intermittent Porphyria (AIP)
Hereditary Coproporphyria (HCP)
Variegate Porphyria (VP)
ALA Dehydratase Deficient Porphyria (ADP)
Porphyria Acute

Additional relevant MeSH terms:
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Porphyrias
Porphyria, Erythropoietic
Porphyria, Acute Intermittent
Porphyrias, Hepatic
Porphyria, Variegate
Coproporphyria, Hereditary
Metabolic Diseases
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Liver Diseases
Digestive System Diseases