Longitudinal Study of the Porphyrias

Status: Recruiting
Location: See all (15) locations...
Study Type: Observational
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: Newborn
Healthy Volunteers: No
View:

• Individuals with a documented diagnosis of a porphyria.

• For each type of porphyria, the inclusion criteria are based on

• 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;)

• molecular findings documenting the identification of a mutation in a porphyria-related gene.

• In addition, an individual or a parent or guardian must be willing to give written informed consent or assent, as appropriate.

• 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.

Locations
United States
Alabama
University of Alabama, Birmingham
Recruiting
Birmingham
California
University of California, Los Angeles
Not yet recruiting
Los Angeles
University of California, San Francisco
Recruiting
San Francisco
Florida
University of Miami
Recruiting
Miami
Illinois
University of Illinois at Chicago
Recruiting
Chicago
Massachusetts
Massachusetts General Hospital
Recruiting
Boston
Minnesota
University of Minnesota
Recruiting
Minneapolis
North Carolina
Carolinas Medical Center and HealthCare System
Terminated
Charlotte
Wake Forest University Health Sciences
Recruiting
Winston-salem
New York
Icahn School of Medicine at Mount Sinai
Recruiting
New York
Ohio
Cleveland Clinic
Not yet recruiting
Cleveland
Pennsylvania
Thomas Jefferson University
Not yet recruiting
Philadelphia
Texas
University of Texas Medical Branch
Recruiting
Galveston
Utah
University of Utah
Recruiting
Salt Lake City
Washington
University of Washington
Recruiting
Seattle
Contact Information
Primary
Karli Hedstrom, MPH
karli.hedstrom@mssm.edu
212-659-1450
Time Frame
Start Date: November 1, 2010
Estimated Completion Date: December 2024
Participants
Target number of participants: 1500
Treatments
Acute Intermittent Porphyria (AIP)
Patients with a documented diagnosis of AIP
Hereditary Coproporphyria (HCP)
Patients with a documented diagnosis of HCP
Variegate Porphyria (VP)
Patients with a documented diagnosis of VP
Congenital Erythropoietic Porphyria (CEP)
Patients with a documented diagnosis of CEP
Hepatoerythropoietic Porphyria (HEP)
Patients with a documented diagnosis of HEP
Porphyria Cutanea Tarda (PCT)
Patients with a documented diagnosis of PCT
Erythropoietic Protoporphyria (EPP)
Patients with a documented diagnosis of EPP
X-Linked Protoporphyria (XLP)
Patients with a documented diagnosis of XLP
Aminolevulinate-Dehydratase Deficiency Porphyria (ALAD, ADP)
Patients with a documented diagnosis of ALAD, ADP
Homozygous Dominant Acute Hepatic Porphyria
Patients with a documented diagnosis of Homozygous Dominant AHP
Authors
Manisha C Balwani, Ashwani K Singal, Bruce Wang, Marshall Mazepa, Brendan McGuire, Manish Thapar, Cynthia Levy, Simon Beaven, Sioban Keel, Karl E. Anderson, Robert J Desnick, John Phillips, Angelika Erwin, Sean Quigley, Joseph R. Bloomer, D. Montgomery Bissell, Amy Dickey, Herbert L Bonkovsky
Sponsors
Leads: Icahn School of Medicine at Mount Sinai

This content was sourced from clinicaltrials.gov

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