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

  • Oct 9, 2020
  • 8 Comments

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:

  1. To study the prevalence of specific indicators of disease severity. To study the effects on quality of life and health of various porphyrias.
  2. 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

  1. 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)

Mitsubishi Tanabe MT-7117 Clinical Trial

Phase 3 Clinical Trial
Participants with EPP or XLP are needed!
FIRST SITES ACTIVE NOW – Boston, MA and Columbus, OH

Trial Description: A Phase 3, Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, And Tolerability of MT-7117 in Subjects with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)

Treatment: Oral medication (pills), once daily in the morning with or without food Duration: 26 weeks plus optional 26 week double-blinded extension.

Endpoint: Increased pain free light exposure in adults and adolescents with a history of phototoxic reactions from EPP or XLP.

Study Sites: There will be 12 study sites in the US, followed by global study sites across multiple countries. COLUMBUS, OHIO and BOSTON, MA NOW OPEN!

Age Range: Patients age 12 - 75

Travel: Will be included and will be arranged by a concierge service trained on EPP/XLP.

Please contact the American Porphyria Foundation for more information and we will connect you with a study site nearest you. Email info@porphyriafoundation.org OR call 866-APF-3635 (301-347-7166).

SUNSENSE Short-Duration study for Erythropoietic Protoporphyria (EPP)

Announcement: Recruiting volunteers for EPP research study

Dr. Amy Dickey, Massachusetts General Hospital, is currently recruiting adult EPP patients for a study investigating methods for measuring light exposure and symptoms in EPP. Her study may eventually help patients to predict symptoms using a wearable smartphone-based device. This could help patients manage the disease better and with less anxiety. These accurate measurements are important in order for researchers and the food and drug administration (FDA) to know whether or not a new therapy is effective. Consequently, the information gained from this study may help new therapies be approved more easily.

The time commitment includes answering a very brief symptom and light exposure survey every day for two months. For one month, you will also be asked to wear a small light sensor. To learn more, Email info@porphyriafoundation.org OR call 866-APF-3635 (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)

 


 

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