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 @ 1:43 PM
Ignite Modification Date:
2025-12-24 @ 1:43 PM
NCT ID:
NCT01688895
Eligibility Criteria:
Inclusion Criteria:
* All subjects must also be enrolled in the Longitudinal Study of the Porphyrias.
* Willing to sign informed consent form
* Biochemical findings - A marked increase in erythrocyte protoporphyrin \[total erythrocyte protoporphyrin \>200 ug/dL, or more than 1.5-fold increase (relative to ULN of 80 ug/dL)\], with a predominance of free protoporphyrin (85-100% in EPP and 50-85% in XLP).
* Molecular findings - one of the following:
1. A disease causing FECH mutation trans to the IVS3-48C\>T low expression FECH allele
2. Two disease-causing FECH mutations
3. A gain-of-function ALAS-2 C-terminal deletion/exon 11 mutation (in XLP). If no mutation is found and subjects fulfill criteria 1-3 they are eligible for enrollment.
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 \[Gibson 2000\].
* 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
Study:
NCT01688895
Study Brief:
Protocol Section:
NCT01688895