NCT07567131招募中不适用
Prospective Clinical Assessment Study in Adolescents and Adults With Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP) (STEPP)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 19
研究概览
简要总结
The purpose of this study is to collect information about the effects of EPP/XLP in adults and adolescents. This is an observational study in which participants will not receive any treatment. Study details include:
- The study duration will be up to 6 months for each participant.
- After Screening, participants will have a Baseline (Day 1) visit and return for visits every 4 weeks through 24 weeks.
- Assessments to evaluate EPP/XLP will include clinical laboratory tests, physical exams, vital signs measurement, blood draws for PPIX concentration, reporting of EPP/XLP-related symptoms (including completion of a daily diary), light dosimetry.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Aged 12 years and older.
- •Confirmed diagnosis of EPP or XLP as follows:
- •Genetic confirmation of EPP (FECH mutation with reduced ferrochelatase activity) OR
- •Genetic confirmation of XLP (ALAS2 gain-of-function mutation) OR
- •Elevated free PPIX levels in RBCs consistent with EPP/XLP, supported by clinical and/or family history.
- •Currently has symptoms of EPP/XLP.
- •History of consistent, non-painful prodrome within approximately 45 minutes of sunlight exposure and prior to phototoxic attacks, as self-reported by the participant.
- •Willing and able to wear a light dosimetry device during the study.
- •Willing and able to complete a daily diary of EPP/XLP symptoms.
- •Willing and able to keep skin sites chosen for provocative sunlight exposure testing covered by opaque material when outside or exposed to potentially triggering light beginning 2 days prior to testing.
- •Willing and able to provide informed consent and/or assent for the study.
- •Study participants and LAR (as appropriate) are willing and able to comply with study visits and study procedures.
排除标准
- •Diagnosis of another porphyria or another photodermatosis that may confound the characterization of EPP/XLP.
- •Has a clinically significant disease or condition that, at the discretion of the Investigator or Sponsor, would interfere with the evaluation of EPP/XLP or study participation, or would make study participation not in the best interest of the participant.
- •Is taking, or has taken within 60 days of Day 1, any medication, vitamin, or supplement that alters sensitivity to light exposure (eg, afamelanotide, melanotan, beta carotene, dersimelagon, or bitopertin).
- •Concurrent or anticipated participation in an interventional clinical trial during the study period.
研究者
研究点 (19)
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