Identification of Acute Intermittent Porphyria Modifying Genes

March 29, 2024 updated by: Robert Desnick, Icahn School of Medicine at Mount Sinai
This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

150

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • New York
      • New York, New York, United States, 10029
        • Recruiting
        • Icahn School of Medicine at Mount Sinai
        • Contact:
        • Principal Investigator:
          • Robert J Desnick

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

12 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above.

Description

Inclusion Criteria:

  • Willing and able to give informed consent
  • 12 years of age or older
  • Willingness to provide blood/saliva and urine samples, and clinical information

  • A member of an AIP family, defined as (must meet one of the following):

    1. proband: possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks in the opinion of the investigator)
    2. Parents (no known HMBS mutations or heterozygote with familial mutation)
    3. First, second, or third degree relative of (a) or (b)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Acute Intermittent Porphyria (AIP)

Symptomatic patients with Acute Intermittent Porphyria (AIP)

A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Odds ratios (OR) of the effects of identified modifier genes/variants
Time Frame: Day 1

There are no primary and secondary endpoints. This is an exploratory genetic study.

Exploratory Endpoints: Odds ratios (OR) of the effects of identified modifier genes/variants.

(If putative predisposing or protective gene variants are identified)
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Icahn School of Medicine at Mount Sinai

Investigators

  • Principal Investigator: Robert J Desnick, Ph.D, MD, Icahn School of Medicine at Mount Sinai

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 23, 2022

Primary Completion (Estimated)

December 1, 2024

Study Completion (Estimated)

December 1, 2024

Study Registration Dates

First Submitted

August 4, 2022

First Submitted That Met QC Criteria

August 12, 2022

First Posted (Actual)

August 16, 2022

Study Record Updates

Last Update Posted (Actual)

April 1, 2024

Last Update Submitted That Met QC Criteria

March 29, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GCO 18-1800

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Not feasible.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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