RECRUITING

Identification of Acute Intermittent Porphyria Modifying Genes

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Identification of Acute Intermittent Porphyria Modifying Genes

Quick Facts

Study Start:2022-09-23

Study Completion:2024-12

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT05502133

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.

Ages Eligible for Study:12 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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)	Pregnancy or breastfeeding Severe psychiatric disorders Active substance abuse Unstable medical conditions Inability to comply with study requirements

Inclusion Criteria

Exclusion 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)

Pregnancy or breastfeeding
Severe psychiatric disorders
Active substance abuse
Unstable medical conditions
Inability to comply with study requirements

Contacts and Locations

Study Contact

Chloe Cheung

CONTACT

646-369-2045

chloeyihang.cheung@mssm.edu

Principal Investigator

Robert J Desnick, Ph.D, MD

PRINCIPAL_INVESTIGATOR

Icahn School of Medicine at Mount Sinai

Study Locations (Sites)

Icahn School of Medicine at Mount Sinai

New York, New York, 10029

United States

Collaborators and Investigators

Sponsor: Icahn School of Medicine at Mount Sinai

Robert J Desnick, Ph.D, MD, PRINCIPAL_INVESTIGATOR, 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 Registration Dates

Study Start Date2022-09-23

Study Completion Date2024-12

Study Record Updates

Study Start Date2022-09-23

Study Completion Date2024-12

Terms related to this study

Additional Relevant MeSH Terms

Acute Intermittent Porphyria (AIP)