Clinical trial • Phase IV • Rare Disease|Endocrinology
BITOPERTIN for Erythropoietic Protoporphyria (EPP) | X-Linked Protoporphyria (XLP)
Phase IV trial of BITOPERTIN for Erythropoietic Protoporphyria (EPP) | X-Linked Protoporphyria (XLP). open-label, none/not specified-controlled.
Overview
- Trial Therapeutic Area
- Rare Disease|Endocrinology
- Trial Disease
- Erythropoietic Protoporphyria (EPP) | X-Linked Protoporphyria (XLP)
- Trial Stage
- Phase IV
- Drug Modality
- Small molecule
- Paediatric Trial
- Yes
- Orphan Drug
- Yes
Key dates
- Initial CTIS Submission Date
- 17-10-2025
- First CTIS Authorization Date
- 12-02-2026
Trial design
open-label, none/not specified-controlled Phase IV trial across 12 sites in Belgium, France, Sweden and others.
- Open Label
- Yes
- Comparator
- None/Not specified
- Target Sample Size
- 216
- Trial Duration For Participant
- 364
Eligibility
Recruits 216 paediatric patients.
- Pregnancy Exclusion
- 7. If female, pregnant, planning to become pregnant, or breastfeeding.
- Vulnerable Population
- Adolescents (participants aged 12–17) are included. The protocol requires written informed consent and specifies "assent if necessary" for minors. Country-specific adolescent assent and parent/guardian informed consent forms are provided (multiple adolescent assent and parent/guardian ICF documents are listed for participating countries), indicating parental/legal guardian consent and adolescent assent processes are in place.
Inclusion criteria
- {"criterion_text":"- 1. Participants with diagnosis of EPP or XLP who are participating (or who have participated) in a prior Disc bitopertin study and who have completed the randomized treatment phase and End-of- Study visit.\n- 2. Aged ≥12 years upon study consent.\n- 3. Body weight ≥32 kg for participants <18 years of age and BMI ≥18.5 kg/m2 for adult participants.\n- 4. Willing to practice highly effective methods of birth control (both males who have partners of childbearing potential and females of childbearing potential during the study, while taking study drug, and for at least 30 days after the last dose of study drug.\n- 5. Negative urine or serum pregnancy test (females of childbearing potential).\n- 6. Able to understand the study aims, procedures, and requirements, and provide written informed consent (and assent if necessary).\n- 7. Able to comply with all study procedures."}
Exclusion criteria
- {"criterion_text":"- 1. Participants who have an ongoing serious adverse event (SAE) from a clinical study that is assessed by the investigator as related to bitopertin.\n- 10. Consumption of grapefruit/Seville orange and products containing these for 14 days prior to first dose of study drug and throughout the study.\n- 2. Other medical or psychiatric condition or laboratory finding not specifically noted above that, in the judgement of the Investigator or Sponsor, would put the participant at unacceptable risk or otherwise preclude participation in the study.\n- 3. Condition or concomitant medication that would confound the ability to interpret clinical, clinical laboratory, or participant diary data, including a major psychiatric condition that has had an exacerbation or required hospitalization in the last 6 months.\n- 4. Planned treatment with afamelanotide or dersimelagon during the study.\n- 5. Planned use of any drugs or herbal remedies known to be strong or moderate inhibitors or inducers of cytochrome P450 (CYP)3A4 enzymes throughout the study.\n- 6. Current or planned treatment with antipsychotic medication.\n- 7. If female, pregnant, planning to become pregnant, or breastfeeding.\n- 8. Participation in any other clinical protocol or investigational study, other than Disc bitopertin studies, that involves administration of experimental therapy and/or therapeutic devices within 30 days of Day 1.\n- 9. Score of PHQ-8 ≥10 at screening or imminent suicidal risk identified by the C-SSRS as defined as suicidal ideation with intent (Grade 4 or 5) within the last year or any suicidal behavior within the last 5 years."}
Endpoints
Primary endpoints
- {"endpoint_text":"- Safety and tolerability of bitopertin, as assessed by the incidence of treatmentemergent adverse events (TEAEs), vital signs, physical examinations, and clinical laboratory parameters.","definition_or_measurement_approach":"As assessed by the incidence of treatment-emergent adverse events (TEAEs), vital signs, physical examinations, and clinical laboratory parameters."}
Secondary endpoints
- {"endpoint_text":"- 1. Change from baseline in daylight tolerance, as assessed by total hours spent in sunlight without pain and average time to first prodromal syndrome in sunlight.","definition_or_measurement_approach":"Change from baseline evaluated by total hours spent in sunlight without pain and average time to first prodromal syndrome in sunlight."}
- {"endpoint_text":"- 2. Percent change from baseline in whole blood metal-free PPIX concentrations.","definition_or_measurement_approach":"Percent change from baseline in whole blood metal-free protoporphyrin IX (PPIX) concentrations (bioanalytical measurement)."}
- {"endpoint_text":"- 3. Plasma bitopertin concentrations.","definition_or_measurement_approach":"Trough and plasma concentrations of bitopertin (pharmacokinetic sampling to obtain and summarize plasma concentrations)."}
Recruitment
- Planned Sample Size
- 216
- Recruitment Window Months
- 33
- Consent Approach
- Written informed consent is required from participants; assent is required for minors. Country-specific informed consent and assent documents are provided (adult ICFs, adolescent assent forms for 12–14 and 15–17, parent/guardian ICFs, pregnancy ICFs). Documents exist in multiple country/language versions (e.g., German, French, Dutch, Italian, Swedish, Norwegian, Spanish, English), indicating language- and age-specific consent/assent materials and parent/guardian consent procedures.
Geography
- Total Number Of Sites
- 12
- Total Number Of Participants
- 46
Belgium
- Earliest CTIS Part Ii Submission Date
- 26-01-2026
- Latest Decision Or Authorization Date
- 13-02-2026
- Processing Time Days
- 18
- Number Of Sites
- 1
- Number Of Participants
- 2
Sites
- Site Name
- UZ Leuven
- Department Name
- Dermatology
- Principal Investigator Name
- Petra De Haes
- Principal Investigator Email
- petra.dehaes@uzleuven.be
- Contact Person Name
- Petra De Haes
- Contact Person Email
- petra.dehaes@uzleuven.be
France
- Earliest CTIS Part Ii Submission Date
- 07-01-2026
- Latest Decision Or Authorization Date
- 28-04-2026
- Processing Time Days
- 111
- Number Of Sites
- 2
- Number Of Participants
- 12
Sites
- Site Name
- Assistance Publique Hopitaux De Paris
- Department Name
- CIC
- Principal Investigator Name
- Laurent Gouya
- Principal Investigator Email
- laurent.gouya@aphp.fr
- Contact Person Name
- Laurent Gouya
- Contact Person Email
- laurent.gouya@aphp.fr
- Site Name
- Centre Hospitalier Universitaire De Nantes
- Department Name
- Dermatology
- Principal Investigator Name
- Marie Le Moigne
- Principal Investigator Email
- marie.lemoigne@chu-nantes.fr
- Contact Person Name
- Marie Le Moigne
- Contact Person Email
- marie.lemoigne@chu-nantes.fr
Sweden
- Earliest CTIS Part Ii Submission Date
- 12-01-2026
- Latest Decision Or Authorization Date
- 09-04-2026
- Processing Time Days
- 87
- Number Of Sites
- 1
- Number Of Participants
- 2
Sites
- Site Name
- Karolinska University Hospital
- Department Name
- Sektionen för leversjukdomar
- Principal Investigator Name
- Staffan Wahlin
- Principal Investigator Email
- staffan.wahlin@regionstockholm.se
- Contact Person Name
- Staffan Wahlin
- Contact Person Email
- staffan.wahlin@regionstockholm.se
Italy
- Earliest CTIS Part Ii Submission Date
- 15-01-2026
- Latest Decision Or Authorization Date
- 09-04-2026
- Processing Time Days
- 84
- Number Of Sites
- 2
- Number Of Participants
- 2
Sites
- Site Name
- Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
- Department Name
- Simple Structure Hemoglobinopathies and Hereditary Disorders of Metabolism and the Immune System
- Principal Investigator Name
- Giovanna Graziadei
- Principal Investigator Email
- giovanna.graziadei@policlinico.mi.it
- Contact Person Name
- Giovanna Graziadei
- Contact Person Email
- giovanna.graziadei@policlinico.mi.it
- Site Name
- I.F.O. Istituti Fisioterapici Ospitalieri
- Department Name
- UOSD Center for Porphyrias and Rare Diseases
- Principal Investigator Name
- Luca Barbieri
- Principal Investigator Email
- luca.barbieri@ifo.it
- Contact Person Name
- Luca Barbieri
- Contact Person Email
- luca.barbieri@ifo.it
Norway
- Earliest CTIS Part Ii Submission Date
- 10-02-2026
- Latest Decision Or Authorization Date
- 08-04-2026
- Processing Time Days
- 57
- Number Of Sites
- 1
- Number Of Participants
- 1
Sites
- Site Name
- Helse Bergen HF
- Department Name
- Norwegian Porphyria Centre
- Principal Investigator Name
- Aasne Aarsand
- Principal Investigator Email
- aasne.aarsand@helse-bergen.no
- Contact Person Name
- Aasne Aarsand
- Contact Person Email
- aasne.aarsand@helse-bergen.no
Spain
- Earliest CTIS Part Ii Submission Date
- 23-01-2026
- Latest Decision Or Authorization Date
- 22-04-2026
- Processing Time Days
- 89
- Number Of Sites
- 1
- Number Of Participants
- 3
Sites
- Site Name
- Hospital Clinic De Barcelona
- Department Name
- Dermatology
- Principal Investigator Name
- Paula Aguilera
- Principal Investigator Email
- paguile@clinic.ub.es
- Contact Person Name
- Paula Aguilera
- Contact Person Email
- paguile@clinic.ub.es
Germany
- Earliest CTIS Part Ii Submission Date
- 15-01-2026
- Latest Decision Or Authorization Date
- 08-04-2026
- Processing Time Days
- 83
- Number Of Sites
- 2
- Number Of Participants
- 10
Sites
- Site Name
- Klinikum Chemnitz gGmbH
- Department Name
- Porphyria
- Principal Investigator Name
- Ilja Kubisch
- Principal Investigator Email
- i.kubisch@skc.de
- Contact Person Name
- Ilja Kubisch
- Contact Person Email
- i.kubisch@skc.de
- Site Name
- Charite Universitaetsmedizin Berlin KöR
- Department Name
- Institute of Allergology (IFA)
- Principal Investigator Name
- Manuel Pereira
- Principal Investigator Email
- manuel.pereira@charite.de
- Contact Person Name
- Manuel Pereira
- Contact Person Email
- manuel.pereira@charite.de
Ireland
- Earliest CTIS Part Ii Submission Date
- 21-01-2026
- Latest Decision Or Authorization Date
- 28-04-2026
- Processing Time Days
- 97
- Number Of Sites
- 1
- Number Of Participants
- 1
Sites
- Site Name
- Children's Health Ireland
- Department Name
- Dermatology
- Principal Investigator Name
- Fiona M. Browne
- Principal Investigator Email
- Fiona.Browne1@childrenshealthireland.ie
- Contact Person Name
- Fiona M. Browne
- Contact Person Email
- Fiona.Browne1@childrenshealthireland.ie
Netherlands
- Earliest CTIS Part Ii Submission Date
- 15-01-2026
- Latest Decision Or Authorization Date
- 02-04-2026
- Processing Time Days
- 77
- Number Of Sites
- 1
- Number Of Participants
- 13
Sites
- Site Name
- Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)
- Department Name
- Internal Medicine
- Principal Investigator Name
- Janneke Langendonk
- Principal Investigator Email
- j.langendonk@erasmusmc.nl
- Contact Person Name
- Janneke Langendonk
- Contact Person Email
- j.langendonk@erasmusmc.nl
Sponsor
Primary sponsor
- Full Name
- Disc Medicine Inc.
- Organisation Type
- Pharmaceutical company
- Country Of Registered Address
- United States
Contract research organisations
- Name
- Orion Clinical Services Limited
- Responsibilities
- Contract Research Organisation (CRO); Medical monitoring
Third parties
- {"country":"United Kingdom","full_name":"Orion Clinical Services Limited","duties_or_roles":"Contract Research Organisation (CRO); Medical monitoring","organisation_type":"Pharmaceutical company"}
- {"country":"United States","full_name":"Almac Clinical Services LLC","duties_or_roles":"IP packaging and labeling","organisation_type":"Pharmaceutical company"}
- {"country":"United Kingdom (Northern Ireland)","full_name":"Almac Clinical Services Limited","duties_or_roles":"Drug Depot","organisation_type":"Pharmaceutical company"}
- {"country":"United States","full_name":"Propharma Group LLC","duties_or_roles":"Pharmacovigilance","organisation_type":"Pharmaceutical company"}
- {"country":"United Kingdom","full_name":"Acm Global Central Laboratory Limited","duties_or_roles":"Central Safety Laboratory, PPIX, PK and Biomarker kit supplies, and sample shipment","organisation_type":"Laboratory/Research/Testing facility"}
- {"country":"United States","full_name":"Creative Proteomics","duties_or_roles":"Exploratory Hepatobiliary Biomarker Laboratory","organisation_type":"Industry"}
- {"country":"United States","full_name":"Medrio Inc.","duties_or_roles":"ePRO; RTSM","organisation_type":"Pharmaceutical company"}
- {"country":"Australia","full_name":"Avance Clinical Pty Limited","duties_or_roles":"eTMF; Medical monitoring","organisation_type":"Pharmaceutical company"}
- {"country":"United States","full_name":"Alliance Pharma Inc.","duties_or_roles":"PPIX, PK Bioanalytical Laboratory","organisation_type":"Pharmaceutical company"}
- {"country":"United States","full_name":"Scout Clinical","duties_or_roles":"Patient Travel Reimbursement","organisation_type":"Hospital/Clinic/Other health care facility"}
Investigational products
- Investigational Product Name
- Bitopertin
- Active Substance
- BITOPERTIN
- Modality
- Small molecule
- Routes Of Administration
- ORAL
- Route
- ORAL
- Authorisation Status
- Investigational (MIA(IMP) 20377)
- Orphan Designation
- Yes
- Maximum Dose
- 60 mg
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