Bitopertin for EPP

Enrolling by invitation at 13 trial locations

Overseen By Disc Medicine Clinical Trials

Age: Any Age

Sex: Any

Trial Phase: Phase 2 & 3

Sponsor: Disc Medicine, Inc

Must be taking: Bitopertin

Must not be taking: Afamelanotide, Dersimelagon, CYP3A4 inhibitors

Disqualifiers: Pregnancy, Suicidal risk, Major psychiatric, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

Duration: up to 5 years

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a treatment called DISC-1459 (also known as Bitopertin) for individuals with erythropoietic protoporphyria (EPP), a condition that makes the skin extremely sensitive to sunlight. The goal is to determine if DISC-1459 is safe, manageable, and effective over the long term. Participants will receive one of two different daily oral dose levels of the treatment. This trial suits those who have already participated in a previous Disc Medicine study for EPP and completed that study's treatment phase. As a Phase 2 and Phase 3 trial, this study evaluates the treatment's effectiveness in a smaller group and represents the final step before FDA approval, offering participants a chance to contribute to advancing treatment options.

Do I have to stop taking my current medications for the trial?

The trial requires that you do not take certain medications that affect liver enzymes (CYP3A4) during the study. If you are on such medications, you may need to stop them. It's best to discuss your current medications with the study team to see if any changes are needed.

Is there any evidence suggesting that this trial's treatments are likely to be safe?

Research has shown that DISC-1459, also known as Bitopertin, is generally safe for patients. Studies involving over 4,000 people have consistently found it safe across various conditions. Specifically, the Aurora Study, which focused on erythropoietic protoporphyria (EPP), found that Bitopertin was well-tolerated. These studies reported no major safety issues, suggesting that DISC-1459 is safe for humans based on data from previous trials. ^{1 2 3 4 5}

Why are researchers excited about this trial's treatments?

Unlike the standard treatments for erythropoietic protoporphyria (EPP), which typically involve managing symptoms through sun avoidance and beta-carotene supplementation, Bitopertin offers a novel approach. Bitopertin is designed to target the glycine transporter, potentially reducing the buildup of protoporphyrin, which causes the painful skin reactions in EPP patients. Researchers are excited about Bitopertin because its unique mechanism could directly address the biochemical pathway responsible for EPP, offering a more targeted and effective treatment option. Additionally, the convenience of an oral dose taken once daily could significantly improve the quality of life for those affected by this rare condition.

What evidence suggests that this trial's treatments could be effective for EPP?

Research has shown that bitopertin (DISC-1459) may help treat EPP (erythropoietic protoporphyria). Studies have found that bitopertin can significantly lower PPIX levels in the blood, a key substance causing EPP symptoms. By reducing PPIX, bitopertin targets the main cause of the condition. Early results suggest that patients consistently improved with this treatment. In this trial, researchers are studying different doses of DISC-1459 to evaluate its effectiveness, with participants receiving either Oral Dose Level 1 or Oral Dose Level 2. ^{2 4 6 7 8}

Who Is on the Research Team?

Will Savage, MD PhD

Principal Investigator

Disc Medicine

Are You a Good Fit for This Trial?

This trial is for individuals aged ≥12 years with a confirmed diagnosis of Erythropoietic Protoporphyria (EPP) who have previously participated in a bitopertin study. Adults must have a BMI ≥18.5 kg/m2, and minors must weigh at least 32 kg. Exclusions include ongoing severe side effects from previous studies related to bitopertin, certain medical or psychiatric conditions, pregnancy, breastfeeding, recent participation in other clinical trials, and use of specific drugs.

Inclusion Criteria

I am 12 years old or older.

I have EPP and have completed a prior Disc Medicine bitopertin study.

Exclusion Criteria

I will be treated with afamelanotide or dersimelagon in the study.

I am not pregnant or breastfeeding.

I am experiencing a severe side effect from bitopertin in another study.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive DISC-1459 (Bitopertin) orally once a day

up to 5 years

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Open-label extension

Long-term study to investigate the safety, tolerability, and efficacy of DISC-1459 in participants with EPP

up to 5 years

What Are the Treatments Tested in This Trial?

Interventions

• DISC-1459

Trial Overview The trial is testing the long-term safety and effectiveness of DISC-1459 (Bitopertin) for treating EPP. It's an open-label extension study which means everyone knows they are receiving Bitopertin without any placebo control.

How Is the Trial Designed?

Group I: DISC-1459 Oral Dose Level 2 Experimental Treatment 1 Intervention

Oral dose, once a day

Group II: DISC-1459 Oral Dose Level 1 Experimental Treatment 1 Intervention

Oral dose, once a day

Who Is Running the Clinical Trial?

Disc Medicine, Inc

Lead Sponsor

Trials

6

Recruited

580+

Citations

1. sciencedirect.com sciencedirect.com/science/article/abs/pii/S0006497124038369

Results from the Aurora Study: A Phase 2, Randomized ... Treatment with bitopertin resulted in significant and sustained reductions in PPIX levels compared to PPIX levels for treatment with placebo at both the 20-mg ...

2. ir.discmedicine.com ir.discmedicine.com/news-releases/news-release-details/disc-reports-topline-results-phase-2-aurora-study-bitopertin

Disc Reports Topline Results from Phase 2 AURORA ... Treatment with bitopertin resulted in statistically significant reductions in PPIX, the primary endpoint, and significant improvements in the rate of ...

3. ashpublications.org ashpublications.org/blood/article/144/Supplement%201/1093/529163/Results-from-the-Beacon-Trial-A-Phase-2-Randomized

Results from the Beacon Trial: A Phase 2, Randomized, Open ... Conclusion: By reducing whole-blood PPIX levels, bitopertin targets the underlying pathophysiology of EPP, resulting in consistent improvements ...

4. clinicaltrials.gov clinicaltrials.gov/study/NCT05883748

Study Details | NCT05883748 | Open-Label, Long-Term ... This is an open-label, long-term extension study to investigate the safety, tolerability and efficacy of DISC-1459 in participants with EPP. Official Title. An ...

5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC10429836/

P1498: INITIAL DATA FROM THE BEACON TRIAL: A ... In murine models of EPP and XLP, treatment with bitopertin lowered blood PPIX levels by >40% compared to controls. Bitopertin treatment in EPP mice also lowered ...

6. clinicaltrials.gov clinicaltrials.gov/study/NCT05308472

NCT05308472 | Study of Bitopertin to Evaluate the Safety, ... This is a Phase 2, multi-center, double-blind, placebo-controlled, parallel group study of bitopertin to evaluate the safety, tolerability, efficacy, and PPIX ...

7. discmedicine.com discmedicine.com/our-pipeline/bitopertin/

Bitopertin (GlyT1 Inhibitor) for Erythropoietic Porphyrias While bitopertin has not been previously studied in EPs, its clinical safety profile and effects on heme synthesis have been extensively characterized. Disc has ...

8. ashpublications.org ashpublications.org/blood/article/140/Supplement%201/5352/489285/Phase-2-Randomized-Open-Label-Trial-of-Bitopertin

Phase 2, Randomized, Open-Label Trial of Bitopertin in ... This is a Phase 2, randomized, open-label, parallel arm trial of 20 and 60 mg bitopertin daily for 24 weeks in EPP patients.