Trial Outcomes & Findings for Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact (NCT NCT01688895)

Results Overview

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.

Recruitment status

COMPLETED

Target enrollment

150 participants

Primary outcome timeframe

1 weeks

Results posted on

2020-04-17

Participant Flow

Participant milestones

Participant milestones
Measure	Adult Patients With EPP/XLP Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Overall Study STARTED	150
Overall Study COMPLETED	150
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Adult Patients With EPP/XLP n=150 Participants Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Age, Continuous	40.9 years STANDARD_DEVIATION 14.5 • n=5 Participants
Sex: Female, Male Female	66 Participants n=5 Participants
Sex: Female, Male Male	84 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	4 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	144 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	2 Participants n=5 Participants
Protoporphyria Type Erythropoietic Protoporphyria - EPP	143 Participants n=5 Participants
Protoporphyria Type X-Linked Protoporphyria - XLP	6 Participants n=5 Participants
Protoporphyria Type Unknown type	1 Participants n=5 Participants
Age at Onset of Symptoms	4.2 years STANDARD_DEVIATION 4.5 • n=5 Participants

PRIMARY outcome

Timeframe: 1 weeks

Population: Data only for those who completed instrument included. A protocol modification to add the HADS tool was done after study initiation, therefore not all subjects received all tools.

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.

Outcome measures

Outcome measures
Measure	Adult Patients With EPP/XLP n=103 Participants Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
The Hospital Anxiety and Depression Scale (HADS) Anxiety	4.6 score on a scale Standard Deviation 4.1
The Hospital Anxiety and Depression Scale (HADS) Depression	1.9 score on a scale Standard Deviation 2.1

PRIMARY outcome

Timeframe: 1 week

Population: Data only for those who completed instrument included. A protocol modification to add the IPQR tool was done after study initiation, therefore not all subjects received all tools.

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.

Outcome measures

Outcome measures
Measure	Adult Patients With EPP/XLP n=104 Participants Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Illness Perception Questionnaire Revised (IPQR) Timeline	23.4 score on a scale Standard Deviation 2.2
Illness Perception Questionnaire Revised (IPQR) Consequences	23.2 score on a scale Standard Deviation 4.3
Illness Perception Questionnaire Revised (IPQR) Personal Control	19.0 score on a scale Standard Deviation 4.9
Illness Perception Questionnaire Revised (IPQR) Treatment Control	9.2 score on a scale Standard Deviation 2.8
Illness Perception Questionnaire Revised (IPQR) Illness Coherence	19.0 score on a scale Standard Deviation 4.2
Illness Perception Questionnaire Revised (IPQR) Timeline - Cyclical	10.5 score on a scale Standard Deviation 3.8
Illness Perception Questionnaire Revised (IPQR) Emotional Representations	18.8 score on a scale Standard Deviation 5.5

PRIMARY outcome

Timeframe: 1 week

Population: Data only for those who completed instrument included. A protocol modification to add the EPP-Specific tool was done after study initiation, therefore not all subjects received all tools.

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.

Outcome measures

Outcome measures
Measure	Adult Patients With EPP/XLP n=107 Participants Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
EPP-Specific Tool S Domain	58.9 units on a scale Standard Deviation 30.8
EPP-Specific Tool Q Domain	30.8 units on a scale Standard Deviation 27.4
EPP-Specific Tool Total Score	54.3 units on a scale Standard Deviation 30.0

SECONDARY outcome

Timeframe: baseline

Population: \*Only those subjects who completed the PROMIS was included

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.

Outcome measures

Outcome measures
Measure	Adult Patients With EPP/XLP n=117 Participants Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Sleep Disturbance PROMIS Scores Pain Interference	49.1 score on a scale Standard Deviation 9.7
Sleep Disturbance PROMIS Scores Depression	44.1 score on a scale Standard Deviation 8.4
Sleep Disturbance PROMIS Scores Physical Function	52.5 score on a scale Standard Deviation 7.8
Sleep Disturbance PROMIS Scores Fatigue	46.6 score on a scale Standard Deviation 10.6
Sleep Disturbance PROMIS Scores Anxiety	47.3 score on a scale Standard Deviation 10.0
Sleep Disturbance PROMIS Scores Sleep Disturbance	48.7 score on a scale Standard Deviation 8.9
Sleep Disturbance PROMIS Scores Satisfaction with Social Roles	54.9 score on a scale Standard Deviation 9.3

Adverse Events

Adult Patients With EPP/XLP

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Dr. Hetanshi Naik

Icahn School of Medicine at Mount Sinai

Phone: 212-241-7699

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place

Restriction type: LTE60