RECRUITING

Longitudinal Study of the Porphyrias

Talk to us

Conditions

Acute PorphyriasCutaneous Porphyriasporphyriaacute intermittentcoproporphyriavariegateerythropoieticprotoporphyriahepatoerythropoieticcutanea tardaAIPHCPVPADPALADPCTHEPCEPEPPXLPhomozygous dominantacute hepaticAHP

Quick Navigation

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

The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.

Official Title

Longitudinal Study of the Porphyrias

Quick Facts

Study Start:2010-11-01
Study Completion:2025-06
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01561157

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:1 Minute
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Individuals with a documented diagnosis of a porphyria.
  2. * For each type of porphyria, the inclusion criteria are based on
  3. * Biochemical findings, as documented by laboratory reports (or copies) of porphyria-specific testing performed after 1980 (Absolute values are preferred for diagnostic biochemical thresholds. Fold increases in comparison to an upper (or lower) limit of normal (ULN or LLN) are also acceptable, but are complicated by considerable variation between laboratories in normal limits. Equivocal biochemical measurements may require confirmation by a consortium reference laboratory;)
  4. * molecular findings documenting the identification of a mutation in a porphyria-related gene.
  5. * In addition, an individual or a parent or guardian must be willing to give written informed consent or assent, as appropriate.
  6. * Provision is made for enrolling relatives who may not have symptoms but have biochemical or molecular documentation of a porphyria, or in the case of recessive disorders carry a disease-related mutation.
  1. * Cases with elevations of porphyrins in urine, plasma or erythrocytes due to other diseases (i.e. secondary porphyrinuria or porphyrinemia), such as liver and bone marrow diseases;
  2. * Patients with a prior diagnosis of porphyria that cannot be documented by review of existing medical records or repeat biochemical or DNA testing.

Contacts and Locations

Study Contact

Mary Freeman, MS, CGC
CONTACT
212-659-1434
mary.freeman@mssm.edu

Principal Investigator

Manisha C Balwani, MD
PRINCIPAL_INVESTIGATOR
Icahn School of Medicine at Mount Sinai

Study Locations (Sites)

University of Alabama, Birmingham
Birmingham, Alabama, 35294
United States
University of California, Los Angeles
Los Angeles, California, 90095
United States
University of California, San Francisco
San Francisco, California, 94143
United States
University of Miami
Miami, Florida, 33136
United States
University of Illinois at Chicago
Chicago, Illinois, 60637
United States
Massachusetts General Hospital
Boston, Massachusetts, 02114
United States
University of Minnesota
Minneapolis, Minnesota, 55455
United States
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
United States
Carolinas Medical Center and HealthCare System
Charlotte, North Carolina, 28203
United States
Wake Forest University Health Sciences
Winston-Salem, North Carolina, 27106
United States
Cleveland Clinic
Cleveland, Ohio, 44195
United States
Thomas Jefferson University
Philadelphia, Pennsylvania, 19107
United States
University of Texas Medical Branch
Galveston, Texas, 77555
United States
University of Utah
Salt Lake City, Utah, 84132
United States
University of Washington
Seattle, Washington, 98195
United States

Collaborators and Investigators

Sponsor: Icahn School of Medicine at Mount Sinai

  • Manisha C Balwani, 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 Date2010-11-01
Study Completion Date2025-06

Study Record Updates

Study Start Date2010-11-01
Study Completion Date2025-06

Terms related to this study

Keywords Provided by Researchers

  • porphyria
  • acute intermittent
  • coproporphyria
  • variegate
  • erythropoietic
  • protoporphyria
  • hepatoerythropoietic
  • cutanea tarda
  • AIP
  • HCP
  • VP
  • ADP
  • ALAD
  • PCT
  • HEP
  • CEP
  • EPP
  • XLP
  • homozygous dominant
  • acute hepatic
  • AHP

Additional Relevant MeSH Terms

  • Acute Porphyrias
  • Cutaneous Porphyrias