Our laboratory group has a longstanding interest in the human porphyrias, which are rare disorders that are due to alterations in the enzymes that synthesize heme. Our research focuses on developing new therapies and strengthening the evidence for existing therapies. We primarily design and conduct prospective studies, rather than retrospective studies of existing records, and these require significant numbers of well-characterized patients with whom we have positive ongoing relationships. Many patients with porphyria are inadequately diagnosed and managed, because there are few specialists with adequate experience. To engage large enough patients countrywide, we need to provide advice on what they need in terms of more accurate diagnosis and better treatment. Other centers have mostly emphasized nonhuman studies or molecular research that does not require prospective relationships. Engagement with the extended community of porphyria patients also highlights issues that the community thinks need further research.
In seeking to find and establish with enough patients for research, we interact frequently with patients, family members and physicians at a distance, and respond to their requests to provide advice on diagnosis and treatment. We also maintain the only laboratory in an academic institution in the US that is certified to accept samples for diagnostic biochemical testing, and we issue reports that include detailed interpretations of the results.
The American Porphyria Foundation (APF) is an active and very effective patient support group that helps us engage the porphyria community and recruit patients for study. They also raise funds from members, private donors and industry for research and development work that this community thinks is important. Especially important is the APF’s Protect The Future (PTF) program, which supports training of new porphyria specialists and scientists at academic institutions such as UTMB. As an APF initiative, the PTF program is an effort that is a clear example of effective community engagement.
More recently, the 5 major porphyria centers in the US and the APF formed the Porphyrias Consortium and applied successfully for a U54 grant from NIH to support collaborative clinical research and training the next generation of porphyria experts. The participating centers in addition to ours are at Mt. Sinai in NY, UAB, U of Utah and UCSF. An unfunded 6th center in Charlotte NC has been added and is engaged primarily in training. The PC is one of 19 consortia in the Rare Disease Clinical Research Network (RDCRN: http://rarediseasesnetwork.epi.usf.edu/). The RDCRN includes a Data Management and Coordinating Center (DMCC) at the University of South Florida that is supported by a separate grant, and it provides invaluable infrastructure support to the PC and other consortia for research (protocol development, web-based data entry and warehousing, statistical consultation, site monitoring, a DSMB, etc.), website development, meetings and conference calls. The PC has already initiated a longitudinal study of all the porphyrias, conducted a clinical trial sponsored by industry, and is preparing additional clinical trials and pilot studies. All investigators meet face-to-face quarterly and have monthly conference calls. Training activities have increased, and now include a “training week” here in Galveston, which reflects our having the greatest number of available patients. The PC website includes a Patient Registry, where patients can ask to be contacted for information about prospective studies or other needs. At its own website, the APF has developed an on-line interactive database of safe and unsafe drugs, which addresses an important clinical issue for the several acute porphyrias (http://www.porphyriafoundation.com/). APF-initiated community engagement activities also include scheduled conferences and conference calls between patients and an expert from one of the centers. We have also advocated for porphyria research and new drug development at the FDA and NIH in Washington. Therefore, the PC and RDCRN have raised porphyria clinical research and community engagement through the APF to a new level.