Current Research Needs – Observational Studies, Clinical Trials, and surveys

Longitudinal Study of the Porphyrias

Status: Recruiting

Background

The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. Porphyrias have various symptoms depending on the type, but these can range from neurological symptoms to sun sensitivity. See the descriptions of each type to get more information. The natural history of these disorders is not well described and it is not known why some patients are more severe than others. Therefore, the purpose of this long-term follow-up study is to collect a large group of patients with the different types of porphyria and to provide a better understanding of the natural history of these disorders. The hope is that this information will help in developing new forms of treatment.

The research aims are:

To study the prevalence of specific indicators of disease severity. To study the effects on quality of life and health of various porphyrias.
To determine the relationships between disease severity and various biological characteristics, genetic information, and environmental factors.

Contact the American Porphyria Foundation to learn more about this study and be placed in contact with the research coordinator. (general@porphyriafoundation.org; 301-347-7166)

Participating Locations:

1 - University of Texas Medical Branch (UTMB - Galveston, TX)
2 - University of Alabama at Birmingham (UAB) - Birmingham, AL
3 - University of California San Francisco - San Francisco, CA
4 - University of Miami - Miami, FL
5 - University of Illinois at Chicago - Chicago, IL
6 - Icahn School of Medicine at Mount Sinai, New York, NY
7 - Wake Forest School of Medicine - Winston Salem, NC
8 - University of Utah - Salt Lake City, UT
9 - University of Washington - Seattle, Washington
10 - University of Minnesota - Minneapolis, MN

Acute Porphyrias (AIP, VP, HCP, ADP)

Panhematin Prevention Study

Are you currently using Panhematin® to prevent acute porphyria attacks? Dr. Karl Anderson, esteemed Porphyria Expert at The University of Texas Medical Branch in Galveston, Texas is currently seeking patients for a Panhematin® Prevention study. The purpose of this study is to determine if Panhematin® is effective for prevention of acute attacks of porphyria. We are seeking 20-30 patients who currently receive prophylactic preventative heme treatment. You may be receiving heme weekly, bi-weekly or once a month and have successfully prevented attacks. Participation in this study will involve traveling to the study site for participation. Travel to the study site will be included.

RESEARCH STUDY:	STUDY DESCRIPTION:	WHO CAN PARTICIPATE:	PARTICIPATING SITES:
Panhematin Prevention Study	The purpose of this study is to determine if Panhematin® is effective for prevention of acute attacks of porphyria.	Patients diagnosed with AIP, VP or HCP	UTMB – Galveston, Texas

Contact the American Porphyria Foundation to learn more about this study and be placed in contact with the research coordinator. (general@porphyriafoundation.org; 301-347-7166)

Erythropoietic Protoporphyria (EPP)

Contact the American Porphyria Foundation to learn more about this study and be placed in contact with the research coordinator. (general@porphyriafoundation.org; 301-347-7166)

Disc Medicine is conducting the following EPP research : Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and PPIX Concentrations in Participants With EPP

If you are interested in participating in the study, please contact the APF for details. 866 APF-3635

Locations

United States, Alabama
University of Alabama Hospital
Recruiting
Birmingham, Alabama, United States, 35233
Contact: Brendan McGuire, MD 205-934-3411
Principal Investigator: Brendan McGuire, MD

United States, California
University of California San Francisco
Recruiting
San Francisco, California, United States, 94117
Contact: Bruce Wang, MD
Principal Investigator: Bruce Wang, MD

United States, Florida
University of Miami Miller School of Medicine
Recruiting
Miami, Florida, United States, 33136
Contact: Cynthia Levy, MD 305-243-4615
Principal Investigator: Cynthia Levy, MD

United States, Massachusetts
Massachusetts General Hospital
Recruiting
Boston, Massachusetts, United States, 02114
Contact: Amy Dickey, MD 206-681-0218
Principal Investigator: Amy Dickey, MD

United States, New York
Mount Sinai Hospital
Recruiting
New York, New York, United States, 10029
Contact: Manisha Balwani, MD 212-241-0915
Principal Investigator: Manisa Balwani, MD

United States, North Carolina
Atrium Health Wake Forest Baptist
Recruiting
Winston-Salem, North Carolina, United States, 27157
Contact: Herbert Bonkovsky, MD 336-713-1442
Principal Investigator: Herbert Bonkovksy, MD

United States, Pennsylvania
Einstein Medical Center
Recruiting
Philadelphia, Pennsylvania, United States, 19141
Contact: Manish Thapar, MD
Principal Investigator: Manish Thapar
University of Pittsburgh Cancer Pavilion
Not yet recruiting
Pittsburgh, Pennsylvania, United States, 15260
Contact: Roy Smith, MD
Principal Investigator: Roy Smith

United States, Texas
University of Texas
Recruiting
Galveston, Texas, United States, 77550
Contact: Karl Anderson, MD 409-772-4661
Principal Investigator: Karl Anderson, MD

United States, Washington
Fred Hutchinson Cancer Center

Recruiting for Canada
Seattle, Washington, United States, 98109
Contact: Ryan Donnelly 206-606-1286 rbd18@seattlecca.org
Principal Investigator: Sioban Keel, MD

Porphyria Cutanea Tarda (PCT)

No active recruitment for PCT at this time. Contact the American Porphyria Foundation to learn more about this study and be placed in contact with the research coordinator. (general@porphyriafoundation.org; 301-347-7166)