Erythropoietic Protoporphyria (EPP)NCT07603401
Expanded Access Program of Bitopertin For Participants With EPP or XLP
A study testing DISC-1459 in people with Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP), run by Disc Medicine, Inc at 7 sites in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
- What is being tested?
- DISC-1459
- Type of treatment
- Pill or oral medicine
- How many people
- Not given
- Where
- 7 sitesUnited States
- Study dates
- Start not givento not given
- Phase
- Expanded access
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- Child, Adult, Older adult
Who may be able to join
- Written informed consent (and assent where applicable).
- Age ≥12 years at time of request.
- 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.
- Hemoglobin ≥10 g/dL at baseline.
- Females of childbearing potential must have a negative pregnancy test prior to enrollment.
Who cannot join
- Known hypersensitivity to bitopertin or its excipients.
- 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.
- Patients with a history of liver transplantation or anticipated need for liver transplantation.
- Pregnancy, planned pregnancy during the program, or breastfeeding.
- Inability or unwillingness to comply with contraception requirements.
- Use of any of the following prohibited concomitant therapies:
Show all 15Show fewer
- Strong CYP3A4 inhibitors
- Strong CYP3A4 inducers
- Grapefruit or Seville orange products
- Afamelanotide or dersimelagon
- Chronic opioid therapy (>7 consecutive days)
- Patients who are currently participating in a bitopertin clinical study.
- 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.
- Patients who have received another investigational therapy within 30 days.
- History of suicidal ideation with intent (C-SSRS Grade 4 or 5) within the past year or suicidal behavior within the past 5 years.
Trial locations and contacts
7 sites in 1 country.
7 sites in 1 country
United States7 sites
- Available
Massachusetts General Hospital
Boston, Massachusetts, 02115
Amy Yeung
- Available
MetroBoston Clinical Partners
Boston, Massachusetts, 02135
Mark S Amster, M.D.
- Available
The Cleveland Clinic Foundation
Cleveland, Ohio, 44195
Angelika Erwin, MD, PhD
- Available
Henry Ford Health
Detroit, Michigan, 48202
Tasneem Mohammad, M.D.
- Available
University of Miami Miller School of Medicine
Miami, Florida, 33146
Cynthia Levy, M.D.
- Available
Mount Sinai Hospital
New York, New York, 10029
Manisha Balwani, M.D.
- Available
Wake Forest University
Winston-Salem, North Carolina, 27157
Sean Rudnick
About this study
Official title: Expanded Access Program Protocol: Bitopertin (DISC-1459) For The Treatment of Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)
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.
- Being tested
- DISC-1459
- Keywords
- EPP, XLP, DISC-1459, RO4917838, Porphyria
- Medical subject headings
- Protoporphyria, Erythropoietic, Protoporphyria, Erythropoietic, X-Linked Dominant, Porphyrias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
DISC-1459Drug
Also called Bitopertin, RO4917838
DISC-1459, 60 mg oral dose once a day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Erythropoietic Protoporphyria (EPP)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Expanded access
Sponsor and investigators
- Lead sponsor
- Disc Medicine, Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Will Savage, MD, PhD, Study director, Disc Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07603401
- Sponsor's protocol ID
- DISC-1459-EAP-US
- Status last verified
- May 2026
- First submitted
- 18 May 2026
- Last updated
- 6 Oct 2026
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Expanded Access Program Protocol: Bitopertin (DISC-1459) For The Treatment of Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)
- ClinicalTrials.gov ID
- NCT07603401
- Acronym / sponsor ID
- DISC-1459-EAP-US
- Keywords
- EPP, XLP, DISC-1459, RO4917838, Porphyria
- Study type
- Expanded access
- Recruitment status
- Available
- Lead sponsor
- Disc Medicine, IncIndustry (pharma, biotech, devices)
- First posted
- 22 May 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Written informed consent (and assent where applicable).
- Age ≥12 years at time of request.
- 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.
- Hemoglobin ≥10 g/dL at baseline.
- Females of childbearing potential must have a negative pregnancy test prior to enrollment.
Key exclusion criteria (15 listed)
- Known hypersensitivity to bitopertin or its excipients.
- 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.
- Patients with a history of liver transplantation or anticipated need for liver transplantation.
- Pregnancy, planned pregnancy during the program, or breastfeeding.
- Inability or unwillingness to comply with contraception requirements.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| DISC-1459Also: Bitopertin, RO4917838DISC-1459, 60 mg oral dose once a day | Drug | – |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Oct 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Will Savage, MD, PhD study director
Disc Medicine
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing DISC-1459 in people with Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP), run by Disc Medicine, Inc at 7 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 15 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 6 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Disc Medicine Clinical Trials ((617) 674 9274, Clinicaltrials@discmedicine.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Oct 2026.