Longitudinal Study of the Porphyrias
The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.
| Condition(s) | Acute Porphyrias, Cutaneous Porphyrias |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders. |
| Who can participate | Inclusion Criteria: * Individuals with a documented diagnosis of a porphyria. * For each type of porphyria, the inclusion criteria are based on * Biochemical findings, as documented by laboratory reports (or copies) of porphyria-specific testing performed after 1980 (Absolute values are preferred for diagnostic biochemical thresholds. Fold increases in comparison to an upper (or lower) limit of normal (ULN or LLN) are also acceptable, but are complicated by considerable variation between laboratories in normal limits. Equivocal biochemical measurements may require confirmation by a consortium reference laboratory;) * molecular findings documenting the identification of a mutation in a porphyria-related gene. * In addition, an individual or a parent or guardian must be willing to give writt |
| Ages | 1 Minute |
| Sex | All |
| Lead sponsor | The American Porphyrias Expert Collaborative |
| Locations | Birmingham, Alabama, United States; Los Angeles, California, United States; San Francisco, California, United States; Miami, Florida, United States; Chicago, Illinois, United States; Boston, Massachusetts, United States (+10 more sites) |
| Start date | 2010-11-01 |
| NCT ID | NCT01561157 |
| Official listing | https://clinicaltrials.gov/study/NCT01561157 |