Erythropoietic Protoporphyria Clinical Trial
Official title:
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Verified date | April 2020 |
Source | Icahn School of Medicine at Mount Sinai |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 150 |
Est. completion date | July 1, 2019 |
Est. primary completion date | July 1, 2019 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility |
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. |
Country | Name | City | State |
---|---|---|---|
United States | University of Alabama, Birmingham | Birmingham | Alabama |
United States | University of Texas Medical Branch | Galveston | Texas |
United States | Icahn School of Medicine at Mount Sinai | New York | New York |
United States | University of Utah | Salt Lake City | Utah |
United States | University of California, San Francisco | San Francisco | California |
United States | Wake Forest University Health Sciences | Winston-Salem | North Carolina |
Lead Sponsor | Collaborator |
---|---|
Icahn School of Medicine at Mount Sinai | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | The Hospital Anxiety and Depression Scale (HADS) | Questionnaire with 7 items for anxiety and 7 items for depression, each item is scored on a 4 point response 0 - 3, subscales 0-21, with full range from 0 to 42, with higher score indicating more severe anxiety or depression. | 1 weeks | |
Primary | Illness Perception Questionnaire Revised (IPQR) | Each item is scored on a likert scale from 1 (strongly disagree) to 5 (strongly agree). Items within each domain were totaled for final domain scores. Seven domains - Timeline (score 5-25), Consequences (score 6-30), Personal Control (score 6-30), Treatment Control (score 3-15), Illness Coherence (score 5-25), Timeline-Cyclical (score 4-20), and Emotional Representations (score 6-30). A modified version without the identity component was used as it was not applicable in EPP. Higher scores domains indicate overall strong beliefs that the disease is chronic and has a negative impact. |
1 week | |
Primary | EPP-Specific Tool | Each item was scored from 0-3 on a Likert scale. There are 2 domains: S=disease severity and Q=QoL. Total scale for each domain transferred to 0-100 scale. Higher scores for the S domain reflect lower severity, and higher satisfaction/QoL for the Q domain. Total Score from 0-100, with higher score indicating higher quality of life. | 1 week | |
Secondary | Sleep Disturbance PROMIS Scores | Sleep Subscales: Pain Interference, Depression, Physical Function, Fatigue, Anxiety, Sleep Disturbance, Satisfaction with Social Roles, each subscale scored from 0-100 with higher score indicating more symptoms affecting sleep. | baseline |
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