[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"erythropoietic-protoporphyria-epp\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:erythropoietic-protoporphyria-epp":21},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,38],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":18,"phases":4,"briefSummary":19,"conditions":20,"keywords":23,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":34,"locationsCount":37},"100641328","expanded-access-program-of-bitopertin-for-participants-with-epp-or-xlp-100641328",false,"NCT07603401","Expanded Access Program of Bitopertin For Participants With EPP or XLP","Expanded Access Program Protocol: Bitopertin (DISC-1459) For The Treatment of Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)","Inclusion Criteria:\n\n* Written informed consent (and assent where applicable).\n* Age ≥12 years at time of request.\n* Diagnosis of erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), confirmed by ferrochelatase (FECH) or aminolevulinic acid synthase 2 (ALAS2) genotyping or by biochemical porphyrin analysis. Prior confirmation is acceptable; re-testing is not required if documentation of prior diagnosis is available.\n* Hemoglobin ≥10 g\u002FdL at baseline.\n* Females of childbearing potential must have a negative pregnancy test prior to enrollment.\n\nExclusion Criteria:\n\n* Known hypersensitivity to bitopertin or its excipients.\n* Patients with AST or ALT ≥3 × upper limit of normal (ULN), or total bilirubin ≥2 × ULN (unless due to Gilbert syndrome), or albumin below the lower limit of normal at screening.\n* Patients with a history of liver transplantation or anticipated need for liver transplantation.\n* Pregnancy, planned pregnancy during the program, or breastfeeding.\n* Inability or unwillingness to comply with contraception requirements.\n* Use of any of the following prohibited concomitant therapies:\n\n  * Strong CYP3A4 inhibitors\n  * Strong CYP3A4 inducers\n  * Grapefruit or Seville orange products\n  * Afamelanotide or dersimelagon\n  * Chronic opioid therapy (\\>7 consecutive days)\n* Patients who are currently participating in a bitopertin clinical study.\n* Patients who previously participated in a bitopertin study and discontinued the study due to an adverse event or for reasons that, in the judgement of the treating physician or Disc, would put the patient at unacceptable risk or otherwise preclude participation in the EAP.\n* Patients who have received another investigational therapy within 30 days.\n* History of suicidal ideation with intent (C-SSRS Grade 4 or 5) within the past year or suicidal behavior within the past 5 years.","ALL","12 Years","EXPANDED_ACCESS","The goal of this expanded access program is to provide bitopertin to patients with EPP and XLP who have no satisfactory treatment options available in the US and to learn if bitopertin is safe to treat EPP and XLP.",[21,22],"Erythropoietic Protoporphyria (EPP)","X-Linked Protoporphyria (XLP)",[24,25,26,27,28],"EPP","XLP","DISC-1459","RO4917838","Porphyria","AVAILABLE","2026-06-26",{"date":32,"type":33},"2026-06-30","ACTUAL",{"name":35,"class":36},"Disc Medicine, Inc","INDUSTRY",3,{"id":39,"slug":40,"hasResults":11,"nctId":41,"briefTitle":42,"officialTitle":43,"acronym":44,"eligibilityCriteria":45,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":46,"targetDuration":4,"studyType":49,"phases":4,"briefSummary":50,"conditions":51,"keywords":53,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":64},"100636549","observational-study-of-adults-and-adolescents-with-erythropoietic-protoporphyria-epp-and-x-linked-porphyria-xlp-100636549","NCT07567131","Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)","Prospective Clinical Assessment Study in Adolescents and Adults With Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP) (STEPP)","stEPP","Inclusion Criteria:\n\n1. Aged 12 years and older.\n2. Confirmed diagnosis of EPP or XLP as follows:\n\n   1. Genetic confirmation of EPP (FECH mutation with reduced ferrochelatase activity) OR\n   2. Genetic confirmation of XLP (ALAS2 gain-of-function mutation) OR\n   3. Elevated free PPIX levels in RBCs consistent with EPP\u002FXLP, supported by clinical and\u002For family history.\n3. Currently has symptoms of EPP\u002FXLP.\n4. History of consistent, non-painful prodrome within approximately 45 minutes of sunlight exposure and prior to phototoxic attacks, as self-reported by the participant.\n5. Willing and able to wear a light dosimetry device during the study.\n6. Willing and able to complete a daily diary of EPP\u002FXLP symptoms.\n7. 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.\n8. Willing and able to provide informed consent and\u002For assent for the study.\n9. Study participants and LAR (as appropriate) are willing and able to comply with study visits and study procedures.\n\nExclusion Criteria:\n\n1. Diagnosis of another porphyria or another photodermatosis that may confound the characterization of EPP\u002FXLP.\n2. Has a clinically significant disease or condition that, at the discretion of the Investigator or Sponsor, would interfere with the evaluation of EPP\u002FXLP or study participation, or would make study participation not in the best interest of the participant.\n3. 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).\n4. Concurrent or anticipated participation in an interventional clinical trial during the study period.",{"count":47,"type":48},50,"ESTIMATED","OBSERVATIONAL","The purpose of this study is to collect information about the effects of EPP\u002FXLP in adults and adolescents. This is an observational study in which participants will not receive any treatment. Study details include:\n\n* The study duration will be up to 6 months for each participant.\n* After Screening, participants will have a Baseline (Day 1) visit and return for visits every 4 weeks through 24 weeks.\n* Assessments to evaluate EPP\u002FXLP will include clinical laboratory tests, physical exams, vital signs measurement, blood draws for PPIX concentration, reporting of EPP\u002FXLP-related symptoms (including completion of a daily diary), light dosimetry.",[21,52],"X-Linked Porphyria (XLP)",[24,25],"RECRUITING","2026-04-28",{"date":57,"type":33},"2026-05-05",{"date":59,"type":48},"2026-04-30",{"date":61,"type":48},"2027-04-01",{"name":63,"class":36},"Portal Therapeutics, Inc.",19]