Longitudinal Study of the Porphyrias

This is an observational, longitudinal study of approximately 800 individuals with various types of porphyria. Those participants will be evaluated annually for 5 years, or longer if they agree. Participation in this project will include: Participating in annual visits or contacts. Providing samples, including blood, buccal cells (cells from inside of the mouth), saliva, and urine. The type of samples and amounts may vary from person to person, depending on the type of porphyria. Giving permission for samples to be stored and used for porphyrias research. Granting permission to obtain your medical records. Providing information about your medical history and family history. Completing a questionnaire about your porphyria symptoms and quality of life. ]]>
7201 - EligibilityDemographics (Short)SociodemographicsBaseline Disorder-Specific Information: Congenital Erythropoietic PorphyriaBaseline Disorder-Specific Information: Erythropoietic Protoporphyria (EPP)Baseline Disorder-Specific Information: Porphyria Cutanea TardaFamily History Information- BaselineGeneral Medical HistoryGeneral Physical ExamConcomitant MedicationsLocal Lab ResultsConclusion of Study ParticipationDeath RecordPorphyria Specific Laboratory TestsBaseline Disorder-Specific Information: Acute Porphyria (AIP, HCP, VP, ADP)Alcohol Consumption QuestionnaireTobacco Use QuestionnaireDisorder-Specific Information- Annual Follow-up: Congenital Erythropoietic PorphyriaDisorder-Specific Information- Annual Follow-up: Erythropoietic ProtoporphyriaDisorder-Specific Information- Annual Follow-up: Porphyria Cutanea TardaHADS: Hospital Anxiety & Depression ScaleNeuropathy Pain ScalePittsburgh Sleep Quality IndexDisorder-Specific Information- Annual Follow-Up: Acute Porphyria (AIP, HCP, VP, ADP)Disorder-Specific Information-Acute Porphyria (AIP, HCP, VP, ADP): Investigator Assessment FormPorphyria Symptoms- Annual Contact FormPROMIS–57 Profile v1.0PROMIS Parent Proxy Short Form v1.0PROMIS Pediatric Item Bank v.1.0Family History Information- Annual Follow Up VisitTo be eligible to participate, you must: Have a confirmed diagnosis of one of the porphyrias (EPP, XLP, CEP, VP, AIP, HCP, PCT, HEP, ADP) You are not eligible to participate if you have: Elevations of porphyrins due to other diseases, such as liver and bone marrow diseases A prior diagnosis of porphyria that cannot be documented by existing medical records or repeat biochemical or DNA testing. ]]>
Study Activated 11/01/2010 Last DSMB review 12/18/2016 Next DSMB review scheduled for 12/01/17 ]]>