| NCT ID | NCT01561157 |
| Status | Recruiting |
| Phase | — |
| Sponsor | The American Porphyrias Expert Collaborative |
| Condition | Acute Porphyrias |
| Study Type | OBSERVATIONAL |
| Enrollment | 1,500 participants |
| Start Date | 2010-11-01 |
| Primary Completion | 2030-06-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 1,500 participants in total. It began in 2010-11-01 with a primary completion date of 2030-06-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
Eligibility Criteria
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 written informed consent or assent, as appropriate. * Provision is made for enrolling relatives who may not have symptoms but have biochemical or molecular documentation of a porphyria, or in the case of recessive disorders carry a disease-related mutation. Exclusion Criteria: * Cases with elevations of porphyrins in urine, plasma or erythrocytes due to other diseases (i.e. secondary porphyrinuria or porphyrinemia), such as liver and bone marrow diseases; * Patients with a prior diagnosis of porphyria that cannot be documented by review of existing medical records or repeat biochemical or DNA testing.
Contact & Investigator
Hetanshi Naik, PhD
PRINCIPAL INVESTIGATOR
Stanford University
Frequently Asked Questions
Who can join the NCT01561157 clinical trial?
This trial is open to participants of all sexes, aged 1 Minute or older, studying Acute Porphyrias. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT01561157 currently recruiting?
Yes, NCT01561157 is actively recruiting participants. Contact the research team at kristen@porphyria.org for enrollment information.
Where is the NCT01561157 trial being conducted?
This trial is being conducted at Birmingham, United States, Los Angeles, United States, San Francisco, United States, Miami, United States and 11 additional locations.
Who is sponsoring the NCT01561157 clinical trial?
NCT01561157 is sponsored by The American Porphyrias Expert Collaborative. The principal investigator is Hetanshi Naik, PhD at Stanford University. The trial plans to enroll 1,500 participants.