Erythropoietic Protoporphyria
Conditions
Keywords
EPP, DISC-1459, porphyria, RO4917838
Brief summary
This is an open-label, long-term extension study to investigate the safety, tolerability and efficacy of DISC-1459 in participants with EPP.
Interventions
DRUGDISC-1459
DISC-1459 dose level 1
Sponsors
Disc Medicine, Inc
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Participants with diagnosis of EPP who are participating (or who have participated) in a prior Disc Medicine bitopertin study and who have completed the randomized treatment phase and End-of-Study visit * Aged ≥12 years upon study consent * Body weight ≥32 kg for participants \<18 years of age and BMI ≥18.5 kg/m2 for adult participants * 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. * Negative urine or serum pregnancy test (females of childbearing potential). * Able to understand the study aims, procedures, and requirements, and provide written informed consent (and assent if necessary). * Able to comply with all study procedures.
Exclusion criteria
* Participants who have an ongoing SAE from a clinical study that is assessed by the investigator as related to bitopertin * 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 * 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 * Planned treatment with afamelanotide or dersimelagon during the study * Planned use of any drugs or herbal remedies known to be strong inhibitors or inducers of cytochrome p450 (CYP)3A4 enzymes throughout the study * If female, pregnant, or breastfeeding * Participation in any other clinical protocol or investigational trial, other than Disc Medicine bitopertin trials, that involves administration of experimental therapy and/or therapeutic devices within 30 days of Day 1 * 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. * Consumption of grapefruit/Seville orange and products containing these for 14 days prior to first dose of study drug and throughout the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Incidence of treatment-emergent adverse events | up to 5 Years | — |
| Incidence of clinically abnormal vital signs | up to 5 Years | — |
| Incidence of clinically abnormal physical exam | up to 5 Years | — |
| Incidence of abnormal laboratory test results | up to 5 Years | — |
| Assessment of Patient Health Questionnaire (PHQ-8) | up to 5 Years | The Patient Health Questionnaire (PHQ-8), an 8-item participant-report measure for screening for depression and for establishing depression severity. The total score ranges from 0-24, with a higher score indicating greater depression symptom severity. |
| Assessment of C-SSRS | up to 5 Years | The C-SSRS is a clinician-rated scale that assesses suicidality from ideation to behaviors and monitors the potential emergence of suicidality in clinical studies. |
Secondary
| Measure | Time frame |
|---|---|
| Change from baseline in daily daylight tolerance, as assessed by total hours spent in the sunlight without pain and average time to first prodromal syndrome in sunlight | up to 5 Years |
| Change from baseline in whole blood metal-free PPIX levels | up to 5 Years |
| Plasma Bitopertin Concentrations | up to 5 Years |
Countries
Australia, Belgium, France, Germany, Ireland, Italy, Netherlands, Spain, Sweden, United Kingdom, United States
Contacts
STUDY_DIRECTORWill Savage, MD PhD
Disc Medicine
Outcome results
None listed