N/A
N=150
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Erythropoietic Protoporphyria · EPP · X-Linked Protoporphyria · XLP · XLPP
Bottom Line
View on ClinicalTrials.gov: NCT01688895 ↗Enrolled (actual)
150
Serious AEs
0.0%
Results posted
Apr 2020
Primary outcome: Primary: The Hospital Anxiety and Depression Scale (HADS) — 4.6; 1.9 score on a scale
Study Design & Population
- Study type
- Observational
- Phase
- N/A
- Interventions
- —
- Age
- Pediatric, Adult, Older Adult
- Sex
- All
- Sponsor
- Icahn School of Medicine at Mount Sinai
- Primary completion
- Jul 2019
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY The Hospital Anxiety and Depression Scale (HADS) |
4.6; 1.9 | — |
| PRIMARY Illness Perception Questionnaire Revised (IPQR) |
23.4; 23.2; 19.0; 9.2; 19.0; 10.5 | — |
| PRIMARY EPP-Specific Tool |
58.9; 30.8; 54.3 | — |
| SECONDARY Sleep Disturbance PROMIS Scores |
49.1; 44.1; 52.5; 46.6; 47.3; 48.7 | — |
Summary
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) for clinical, biochemical, and genetic studies. The long-term objectives are (1) to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with erythropoietic protoporphyria, (2) to systematically investigate the psychological effects of the erythropoietic protoporphyrias on children and adults, and (3) to investigate the correlation between the identified genotypes and the resulting clinical presentation, also determining the possible interaction of other genetic markers.
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:
- A disease causing FECH mutation trans to the IVS3-48C>T low expression FECH allele
- Two disease-causing FECH mutations
- 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.
Data sourced from ClinicalTrials.gov (NCT01688895). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.