An observational study in Erythropoietic Protoporphyria, EPP and X-Linked Protoporphyria, sponsored by Icahn School of Medicine at Mount Sinai. Completed at 6 sites in United States. Per ClinicalTrials.gov, last updated 2020-04-17.
Sponsored by Icahn School of Medicine at Mount Sinai · 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.
The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. The most common manifestations are related to accumulation of intermediates in the pathway and usually occur as acute neurological attacks (as in the acute or hepatic porphyrias), or cutaneous photosensitivity (as in the cutaneous porphyrias, including the erythropoietic protoporphyrias). Multiple mutations have been identified in each of the porphyrias. The risk of disability or death from these disorders is significant, in part because diagnosis is often delayed due to lack of adoption of diagnostic testing in clinical practice. Moreover, the natural history of these disorders is not well described and it is not known what determines differences in outcomes. New therapies are needed. For existing therapies, high-quality evidence on short and long term efficacy and safety is generally lacking. Therefore, the purpose of this study of a large group of patients with EPP and XLP is to provide a better understanding of the natural history of these disorders, as affected by available therapies, and to aid in developing new forms of treatment. Much of the data collected on subjects as participants in the Longitudinal Study of the Porphyrias will be accessed for this study specific to the investigation of the erythropoietic protoporphyrias. To maximize the information that can be informative in our objectives, additional data will be collected, including additional biochemical findings and EPP-specific psychosocial parameters.
The Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) established a Rare Diseases Clinical Research Network (RDCRN) in collaboration with other NIH Institutes and currently has funded 19 rare diseases clinical research consortia and one Data Management and Coordinating Center. The Porphyrias Consortium was created as part of the RDCRN, to study the human porphyrias. The Porphyrias Consortium is a consortium of the academic institutions listed in the participating institutions table. All Centers in the Porphyrias Consortium are participating in this study. Additional centers may be added if funding is available.
29 studies on the registry are indexed under Protoporphyria, Erythropoietic; 5 are open to participants now.
Browse Protoporphyria, Erythropoietic studies →Icahn School of Medicine at Mount Sinai is the lead sponsor of 764 studies on the registry; 181 are open to participants now.
Of its 121 completed or terminated interventional studies of FDA-regulated products, 82 (68%) have results posted.
Counted across the registry records on this site, refreshed daily.
Subjects will be recruited from the following resources:
Molecular findings - one of the following:
Exclusion Criteria:
Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
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.
Time frame: 1 weeks
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.
Time frame: 1 week
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.
Time frame: 1 week
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.
Time frame: baseline
| Milestone | Adult Patients With EPP/XLP |
|---|---|
| Started | 150 |
| Completed | 150 |
| Not completed | 0 |
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.
| score on a scale | Adult Patients With EPP/XLP |
|---|---|
| Anxiety | 4.6 ± 4.1 |
| Depression | 1.9 ± 2.1 |
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.
| score on a scale | Adult Patients With EPP/XLP |
|---|---|
| Timeline | 23.4 ± 2.2 |
| Consequences | 23.2 ± 4.3 |
| Personal Control | 19.0 ± 4.9 |
| Treatment Control | 9.2 ± 2.8 |
| Illness Coherence | 19.0 ± 4.2 |
| Timeline - Cyclical | 10.5 ± 3.8 |
| Emotional Representations | 18.8 ± 5.5 |
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.
| units on a scale | Adult Patients With EPP/XLP |
|---|---|
| S Domain | 58.9 ± 30.8 |
| Q Domain | 30.8 ± 27.4 |
| Total Score | 54.3 ± 30.0 |
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.
| score on a scale | Adult Patients With EPP/XLP |
|---|---|
| Pain Interference | 49.1 ± 9.7 |
| Depression | 44.1 ± 8.4 |
| Physical Function | 52.5 ± 7.8 |
| Fatigue | 46.6 ± 10.6 |
| Anxiety | 47.3 ± 10.0 |
| Sleep Disturbance | 48.7 ± 8.9 |
| Satisfaction with Social Roles | 54.9 ± 9.3 |
Collected over 1 week. Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Adult Patients With EPP/XLP | 0/150 (0%) | 0/150 (0%) | 0/150 (0%) |
| Age, Continuous(years) | Adult Patients With EPP/XLP |
|---|---|
| Mean | 40.9 ± 14.5 |
| Sex: Female, Male(Participants) | Adult Patients With EPP/XLP |
|---|---|
| Female | 66 |
| Male | 84 |
| Ethnicity (NIH/OMB)(Participants) | Adult Patients With EPP/XLP |
|---|---|
| Hispanic or Latino | 4 |
| Not Hispanic or Latino | 144 |
| Unknown or Not Reported | 2 |
| Protoporphyria Type(Participants) | Adult Patients With EPP/XLP |
|---|---|
| Erythropoietic Protoporphyria - EPP | 143 |
| X-Linked Protoporphyria - XLP | 6 |
| Unknown type | 1 |
| Age at Onset of Symptoms(years) | Adult Patients With EPP/XLP |
|---|---|
| Mean | 4.2 ± 4.5 |
Documents are hosted by the registry — open the source record to download them.
This study is completed, as verified in Apr 2020. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Protoporphyria, Erythropoietic→
Icahn School of Medicine at Mount Sinai