A Phase 2, Randomized, Open Label Study of Bitopertin administered orally to Evaluate the Safety, Tolerability, Efficacy, and Protoporphyrin IX (PPIX) Concentrations in Participants with Erythropoietic Protoporphyria (EPP)
- Conditions
- Erythropoietic Protoporphyria (EPP)Metabolic and Endocrine - Metabolic disorders
- Registration Number
- ACTRN12622000799752
- Lead Sponsor
- Disc Medicine, Inc.
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 22
1. Aged 18 years or older
2. Diagnosis of EPP or XLP, based on medical history of FECH or ALAS2 genotyping or by biochemical porphyrin analysis.
3. Body weight greater than or equal to 50 kg.
4. Washout of at least 2 months prior to Screening of afamelanotide or dersimelagon, if applicable.
5. Aspartate aminotransferase (AST) and alanine transaminase (ALT) less than 2×upper limit of normal (ULN) and total bilirubin less than ULN (unless documented Gilbert syndrome) at Screening. Albumin greater than lower limit of normal (LLN).
6. If male with female sexual partner(s) of childbearing potential, agrees he and partner will use one of the following acceptable methods of birth control during the study and for 30 days after the last study drug dose:
a. abstinence
b. stable hormonal contraceptive or a barrier method (e.g., condom [male or female] or diaphragm)
c. intrauterine device, in place for at least 3 months
d. surgically sterile by hysterectomy, bilateral oophorectomy, or bilateral tubal ligation
7. If female of childbearing potential, defined as prior menarche, no hysterectomy, no bilateral oophorectomy, not postmenopausal (at least 12 months natural, spontaneous amenorrhea), must commit to one of the following methods of acceptable birth control during the study and for 30 days after the last study drug dose:
a. abstinence
b. stable hormonal contraceptive in conjunction with a barrier method (e.g., condom [male or female] or diaphragm)
c. intrauterine device, in place for at least 3 months
8. Negative urine or serum pregnancy test (females of childbearing potential) at Screening (Days -28 to -1) AND Baseline (Day 1), prior to dosing.
9. Able to understand the study aims, procedures, and requirements, and provide written informed consent.
10. Able to comply with all study procedures.
1. Major surgery within 8 weeks before Screening or incomplete recovery from any previous surgery.
2. Other than EPP, an inherited or acquired red cell disease associated with anemia.
3. A history or known allergic reaction to any investigational product excipients or history of anaphylaxis to any food or drug.
4. History of liver transplantation.
5. History of alcohol dependence or excessive alcohol consumption, as assessed by the Investigator.
6. Human immunodeficiency virus (HIV), active Hepatitis B, or C. A positive Hepatitis B result, indicating active disease status, should be discussed between the Investigator and Sponsor prior to enrollment.
7. Other medical or psychiatric condition or laboratory finding not specifically noted above that, in the judgment of the Investigator or Sponsor, would put the participant at unacceptable risk or otherwise preclude the participant from participating in the study
8. 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.
9. Concurrent or planned treatment with afamelanotide or dersimelagon.
10. Treatment with opioids for any period greater than 7 days in the 2 months prior to screening or anticipated to require opioid use for greater than 7 days at any point during the study.
11. Treatment for anemia, including iron supplementation, in the 2 months prior to Screening.
12. Current or planned use of any drugs or herbal remedies known to be strong inhibitors or inducers of CYP3A4 enzymes for 28 days prior to the first dose and throughout the study
13. Hemoglobin less than 10 g/dL at Screening.
14. If female, pregnant or breastfeeding.
15. Participation in any other clinical protocol or investigational trial that involves administration of experimental therapy and/or therapeutic devices within 30 days of Screening.
16. Grapefruit/Seville orange and food products containing these, for 14 days prior to first dose and throughout the study
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method To assess changes in Protoporphyrin IX (PPIX) concentrations in response to bitopertin treatment. <br><br>Measured by Percent change from baseline in erythrocyte metal-free PPIX levels. Blood samples will be collected to analyse markers relevant to the mechanism of action to bitopertin.[Day 15 (after starting treatment) to Day 169 (End of Study) at all visits during treatment and Extension (every 8 weeks up to 1 year from Day 1)<br><br>]
- Secondary Outcome Measures
Name Time Method