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 Edrin Williams, Director of Patient Services to learn more about this study and be placed in contact with the research coordinator. (edrinw@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 Edrin Williams, Director of Patient Services to learn more about this study and be placed in contact with the research coordinator. (edrinw@porphyriafoundation.org ; 301-347-7166)

Erythropoietic Protoporphyria (EPP)

Contact Edrin Williams, Director of Patient Services to learn more about this study and be placed in contact with the research coordinator. (edrinw@porphyriafoundation.org ; 301-347-7166)

Porphyria Cutanea Tarda (PCT)

No active recruitment for PCT at this time. Contact Edrin Williams, Director of Patient Services to learn more about other research opportunities. (edrinw@porphyriafoundation.org; 301-347-7166)