Eligibility Module
The Eligibility Module contains detailed information about who can participate in the clinical trial. This includes eligibility criteria, age restrictions, gender requirements, healthy volunteer status, and study population descriptions, helping researchers understand who is eligible to participate in the study.
Eligibility Module path is as follows:
Study -> Protocol Section -> Eligibility Module
Eligibility Module
Ignite Creation Date:
2025-12-24 @ 6:55 PM
Ignite Modification Date:
2025-12-24 @ 6:55 PM
NCT ID:
NCT01561157
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.
Healthy Volunteers:
False
Sex:
ALL
Minimum Age:
1 Minute
Study:
NCT01561157
Study Brief:
Protocol Section:
NCT01561157