RegulationOrphan Drug (United States), Rare Pediatric Disease (United States), Orphan Drug (European Union), Commissioner's National Priority Voucher (United States)

Structure/Sequence

Molecular FormulaC21H20F7N3O4S

InChIKeyYUUGYIUSCYNSQR-LBPRGKRZSA-N

CAS Registry845614-11-1

Clinical Trials associated with Bitopertin

EUCTR2025-000481-28-3RD

/ Unknown statusPhase 2

A Phase 2, Randomized, Open Label Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and Protoporphyrin IX (PPIX) Concentrations in Participants with Erythropoietic Protoporphyria (EPP)

Start Date26 Mar 2026

Sponsor / Collaborator

Disc Medicine, Inc.

NCT07123363

/ WithdrawnPhase 1IIT

Effect of Bitopertin on the Liver and on Levels of Protoporphyrin IX in Bile, Blood, Liver, and Stool in Patients With Erythropoietic Protoporphyria/X-linked Protoporphyria and Increased Liver Stiffness and/or Liver Enzymes at Baseline

The primary goal of this study is to assess safety and tolerability of bitopertin in subjects with Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP) and evidence of compensated liver disease.

Start Date01 Jan 2026

Sponsor / Collaborator

Wake Forest School of Medicine

NCT06910358

/ Active, not recruitingPhase 3

APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)

The goal of this clinical trial is to learn if bitopertin works and is safe to treat EPP or XLP in participants 12 years or older. The main questions it aims to answer are:
* Whether bitopertin increases pain-free sunlight exposure after 6 months of treatment in participants with EPP or XLP.
* How PPIX concentration levels change from before bitopertin treatment to after 6 months of treatment.
Researchers will compare bitopertin to a placebo look-alike substance that contains no drug.
Participants will complete daily questionnaires and attend study visits for assessments.

Start Date04 Apr 2025

Sponsor / Collaborator

Disc Medicine, Inc.

100 Clinical Results associated with Bitopertin

100 Translational Medicine associated with Bitopertin

100 Patents (Medical) associated with Bitopertin

Literatures (Medical) associated with Bitopertin

26 May 2026·CLINICAL AND EXPERIMENTAL DERMATOLOGY

An open-label phase II study of bitopertin in adults and adolescents with erythropoietic protoporphyria or X-linked protoporphyria

Article

Author: Stewart, Peter ; Ross, Gayle ; Savage, Will ; Howell, Haley ; Chin, Melanie ; Mensing, George ; Mangus, Heidi

Abstract:

Background:

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders characterized by accumulation of protoporphyrin IX (PPIX), painful phototoxic reactions and hepatobiliary disease. No disease-modifying therapies are approved for these conditions.

Objectives:

To evaluate the safety and efficacy of bitopertin in adults and adolescents with EPP or XLP.

Methods:

BEACON (ACTRN12622000799752) was a phase II, randomized, open-label, parallel-arm study in adult and adolescent participants with EPP or XLP. Participants received an oral, once-daily administration of bitopertin 20 mg or 60 mg for 24 weeks.

Results:

Twenty-six participants were randomized to 20 mg (n = 14) or 60 mg (n = 12) of bitopertin. The study met its primary efficacy endpoint. Treatment with bitopertin resulted in significant, dose-dependent reductions in PPIX levels compared with baseline at both the 20-mg and 60-mg dose levels (mean −31.7%, SE 7.0; P < 0.001 vs. baseline and mean −57.7%, SE 7.4; P < 0.001 vs. baseline, respectively). Similar efficacy was observed across the adult and adolescent populations. No serious adverse events were reported. Dizziness was the most common adverse event reported with bitopertin, in 9 (64%) and 8 (67%) participants completing the study in the 20-mg and 60-mg dose groups, respectively.

Conclusions:

By reducing whole-blood PPIX levels, bitopertin targets the underlying pathophysiology of EPP, resulting in consistent improvements in multiple measures of light tolerance and quality of life. Bitopertin was well tolerated, and most adverse events were mild or moderate in severity.

01 Apr 2026·JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Bitopertin shows efficacy in patients with erythropoietic protoporphyria: Results from the randomized, double-blind, placebo-controlled AURORA trial

Article

Author: Anderson, Karl E ; Wang, Bruce ; Yeung, Amy K ; Chin, Melanie ; Bonkovsky, Herbert L ; Balwani, Manisha ; Keel, Siobán ; Thapar, Manish ; Desnick, Robert ; Levy, Cynthia ; Savage, Will

BACKGROUND:

Erythropoietic protoporphyria is a rare genetic disorder of heme biosynthesis characterized by protoporphyrin-IX accumulation, painful phototoxic reactions, and hepatobiliary disease, for which no disease-modifying therapies are approved.

OBJECTIVE:

To evaluate the efficacy and safety of bitopertin, an inhibitor of glycine transporter 1, in adults with erythropoietic protoporphyria.

METHODS:

In this randomized, double-blind, phase 2 study, patients received once-daily oral bitopertin 20 mg, bitopertin 60 mg, or placebo for 17 weeks. The primary endpoint was percentage change from baseline in whole-blood metal-free protoporphyrin-IX levels at day 121.

RESULTS:

Patients received bitopertin 20 mg (n = 26), 60 mg (n = 25), or placebo (n = 24). At day 121, the percentage change from baseline in whole-blood metal-free protoporphyrin-IX versus placebo was -29.6% (P = .004) with bitopertin 20 mg and -49.8% (P < .001) with bitopertin 60 mg. Bitopertin was associated with a reduced incidence of phototoxic reactions. Bitopertin was well tolerated with no notable safety concerns identified.

LIMITATIONS:

Small sample size, short follow-up period, and no formal adjustments for between-group multiple-pairwise comparisons.

CONCLUSIONS:

Bitopertin significantly reduced protoporphyrin-IX levels, showed improved measures of sunlight tolerance, and had a favorable safety profile in patients with erythropoietic protoporphyria.

04 Mar 2026·EXPERT OPINION ON PHARMACOTHERAPY

New and currently investigated pharmacotherapies for the erythropoietic protoporphyrias: spotlight on dersimelagon and bitopertin

Review

Author: Falchetto, Rocco ; Dechant, Cornelia ; Barman-Aksözen, Jasmin ; Wäscher, Sebastian ; Granata, Francesca

INTRODUCTION:

The erythropoietic protoporphyrias (EPP) are ultra-rare inborn errors of the heme biosynthesis characterized by painful and debilitating phototoxic reactions in the blood vessels upon exposure to visible light. Afamelanotide is the only approved treatment for EPP and effectively prevents pain and prolongs the time patients can spend in sunlight. However, afamelanotide does not address the underlying disease mechanism and is currently only approved for use in adult patients, leaving children and adolescents without a treatment option. The two investigational pharmacotherapies, dersimelagon and bitopertin, could offer benefits such as treatment options for children and prevention of some of the associated disease complications.

AREAS COVERED:

This narrative review (using Pubmed and trial databases) aims to provide an overview of the status of development of dersimelagon and bitopertin, with a focus on the prevention of phototoxicity.

EXPERT OPINION:

The currently available trial data on dersimelagon and bitopertin suggests treatment effects in EPP as compared to placebo control groups. However, safety and efficacy of dersimelagon and bitopertin need to be further characterized. Moreover, to ensure benefit for patients and access to therapy after regulatory approval, it also would be important to generate data on the relative safety and efficacy as compared to afamelanotide.

119

News (Medical) associated with Bitopertin

30 Jul 2026

·www.biospace.com

Disc Medicine Reports Second Quarter 2026 Financial Results and Provides Business Update

Completed Type A meeting with the FDA on bitopertin and aligned that the Phase 3 APOLLO study, if successful, can serve as the basis for CRL response; topline data expected in Q4 2026 Launched Expanded Access Program (EAP) for bitopertin for eligible erythropoietic protoporphyria (EPP) patients Presented positive clinical data updates from the RALLY-MF Phase 2 trial of selcodebart (DISC-0974) in anemia of myelofibrosis and the HELIOS open-label extension trial of bitopertin in EPP Completed enrollment for RESTORE-PV Phase 2 study of DISC-3405 in polycythemia vera (PV) with initial data expected in Q3 2026 and progressing Phase 1b study of DISC-3405 in sickle cell disease (SCD) with initial data expected in Q4 2026 Strong financial position ending Q2 with approximately $718 million in cash, cash equivalents, and marketable securities, providing runway into 2029 WATERTOWN, Mass., July 30, 2026 (GLOBE NEWSWIRE) -- Disc Medicine, Inc. (NASDAQ:IRON), a clinical-stage biopharmaceutical company focused on the discovery, development, and commercialization of novel treatments for patients suffering from serious hematologic diseases, today reported financial results for the second quarter ended June 30, 2026, and provided a review of recent program and corporate developments. “The anticipated readout of the Phase 3 APOLLO trial of bitopertin in EPP in Q4 marks a significant milestone. We have continued driving forward on this program over the past quarter with the launch of our EAP,” said John Quisel, J.D., Ph.D., Chief Executive Officer and President of Disc. “We also look forward to significant advancement across the rest of our pipeline in the second half of 2026. We saw strong demand for the Phase 2 RESTORE-PV trial of DISC-3405 in polycythemia vera, which is now fully enrolled with initial data coming ahead of schedule in Q3. Along with an expected end of Phase 2 FDA interaction on selcodebart in MF anemia in Q4, we will potentially be positioned to advance two more programs into pivotal-stage development in 2027.” Recent Highlights and Anticipated Milestones: Bitopertin: GlyT1 Inhibitor (Heme Synthesis Modulator) ezstandalone.cmd.push(function () { ezstandalone.showAds(131); }); Completed Type A meeting with the FDA to discuss the CRL for bitopertin in erythropoietic protoporphyria (EPP) and aligned that the Phase 3 APOLLO study, if successful, can serve as the basis for CRL response and could potentially support a traditional approval Presented updated data from the HELIOS open-label extension trial of bitopertin in EPP at the European Hematology Association (EHA) Annual Meeting, demonstrating sustained reductions in protoporphyrin IX (PPIX), significant improvement in light tolerance measures, and favorable longer-term safety Launched an Expanded Access Program (EAP) for bitopertin in the US and select other geographies, providing eligible patients with EPP and XLP access to treatment prior to a regulatory decision On track to report APOLLO topline results in Q4 2026 and expect to submit CRL response and receive an FDA decision by mid-2027 APOLLO completed enrollment in March 2026 and enrolled ahead of schedule with a final N of 183 Selcodebart (DISC-0974): Anti-Hemojuvelin Antibody (Hepcidin Suppression) Shared updated data from RALLY-MF trial of selcodebart in anemia of myelofibrosis (MF) in oral presentations at the American Society of Clinical Oncology (ASCO) and European Hematology Association (EHA) annual meetings, solidifying selcodebart’s differentiated emerging pro MF. Data showed: Major anemia response rate of 56% and overall anemia response rate of 72% across evaluable patients Similar, strong response rates across transfusion cohorts and with or without background JAK inhibitor therapy Additional data from RALLY-MF anticipated in Q4 2026, with an end-of-Phase 2 meeting with the FDA expected to occur by year-end Received EU Orphan Drug Designation for selcodebart for the treatment of myelofibrosis Progressing Phase 2 study in patients with inflammatory bowel disease (IBD) with initial data expected in 2027 DISC-3405: Anti-TMPRSS6 Antibody (Hepcidin Induction) Completed enrollment for RESTORE-PV Phase 2 study in patients with polycythemia vera with initial data expected in Q3 2026 Progressing Phase 1b study in patients with sickle cell disease with initial data expected in Q4 2026 Second Quarter 2026 Financial Results: Cash Position: Cash, cash equivalents, and marketable securities were $717.7 million as of June 30, 2026, which are expected to fund operational plans into 2029. Research and Development Expenses: R&D expenses were $46.9 million for the three months ended June 30, 2026, as compared to $46.3 million for the three months ended June 30, 2025. The increase in R&D expenses was primarily driven by the progression of Disc's portfolio, including the advancement of the selcodebart (DISC-0974) and DISC-3405 clinical studies and drug manufacturing, as well as increased headcount. These increases were partially offset by a decrease in manufacturing costs related to bitopertin and a $10.0 million milestone payment incurred upon initiation of the APOLLO study during the comparative period. Selling, General and Administrative Expenses: SG&A expenses were $18.1 million for the three months ended June 30, 2026, as compared to $15.1 million for the three months ended June 30, 2025. The increase in SG&A expenses was primarily due to increased headcount. Net Loss: Net loss was $59.5 million for the three months ended June 30, 2026, as compared to $55.2 million for the three months ended June 30, 2025. The increase was primarily due to higher operating costs in the current period to support the continued advancement of our pipeline. About Disc Medicine Disc Medicine (NASDAQ:IRON) is a clinical-stage biopharmaceutical company committed to discovering, developing, and commercializing novel treatments for patients who suffer from serious hematologic diseases. We are building a portfolio of innovative, potentially first-in-class therapeutic candidates that aim to address a wide spectrum of hematologic diseases by targeting fundamental biological pathways of red blood cell biology, specifically heme biosynthesis and iron homeostasis. For more information, please visit . Available Information Disc announces material information to the public about the Company, its products and services, and other matters through a variety of means, including filings with the U.S. Securities and Exchange Commission (SEC), press releases, public conference calls, webcasts and the investor relations section of the Company website at ir.discmedicine.com in order to achieve broad, non-exclusionary distribution of information to the public and for complying with its disclosure obligations under Regulation FD. Disc Cautionary Statement Regarding Forward-Looking Statements This press release contains “forward-looking statements” within the meaning of the Private Securities Litigation Reform Act of 1995, including, but not limited to, express or implied statements regarding: Disc’s expectations with respect to the next stages of its development programs for bitopertin, selcodebart (DISC-0974) and DISC-3405, including projected timelines for the initiation and completion of its clinical trials, anticipated timing of release of data, and other clinical activities; the registrational pathway for bitopertin, including the potential for traditional approval, the potential for the APOLLO clinical trial to serve as the basis for the CRL response and any such approval, and the timing of any such approval, if granted; anticipated discussions with regulatory agencies; and the strength of its financial position and its anticipated cash runway. The use of words such as, but not limited to, “believe,” “expect,” “estimate,” “project,” “intend,” “future,” “potential,” “continue,” “may,” “might,” “plan,” “will,” “should,” “seek,” “anticipate,” or “could” or the negative of these terms and other similar words or expressions that are intended to identify forward-looking statements. Forward-looking statements are neither historical facts nor assurances of future performance. Instead, they are based on Disc’s current beliefs, expectations and assumptions regarding the future of Disc’s business, future plans and strategies, clinical results and other future conditions. New risks and uncertainties may emerge from time to time, and it is not possible to predict all risks and uncertainties. No representations or warranties (expressed or implied) are made about the accuracy of any such forward-looking statements. Disc may not actually achieve the plans, intentions or expectations disclosed in these forward-looking statements, and investors should not place undue reliance on these forward-looking statements. Actual results or events could differ materially from the plans, intentions and expectations disclosed in the forward-looking statements as a result of a number of material risks and uncertainties including but not limited to: the adequacy of Disc’s capital to support its future operations and its ability to successfully initiate and complete clinical trials; the nature, strategy and focus of Disc; the difficulty in predicting the time and cost of development of Disc’s product candidates; Disc’s plans to research, develop and commercialize its current and future product candidates; the timing of initiation of Disc’s planned preclinical studies and clinical trials; the timing of the availability of data from Disc’s clinical trials; Disc’s ability to identify additional product candidates with significant commercial potential and to expand its pipeline in hematological diseases; the timing and anticipated results of Disc’s preclinical studies and clinical trials and the risk that the results of Disc’s preclinical studies and clinical trials may not be predictive of future results in connection with future studies or clinical trials and may not support further development and marketing approval; the content and timing of decisions made by the FDA and other regulatory authorities; and the other risks and uncertainties described in Disc’s filings with the Securities and Exchange Commission, including in the “Risk Factors” section of Disc’s Annual Report on Form 10-K for the year ended December 31, 2025, and in subsequent Quarterly Reports on Form 10-Q. Any forward-looking statement speaks only as of the date on which it was made. None of Disc, nor its affiliates, advisors or representatives, undertake any obligation to publicly update or revise any forward-looking statement, whether as result of new information, future events or otherwise, except as required by law. Media Contact Peg Rusconi Deerfield Group peg.rusconi@deerfieldgroup.com Investor Relations Contact Christina Tartaglia Precision AQ christina.tartaglia@precisionaq.com DISC MEDICINE, INC. CONDENSED CONSOLIDATED STATEMENTS OF OPERATIONS (In thousands, except share and per share amounts) (Unaudited) Three months ended June 30, Six Months Ended June 30, 2026 2025 2026 2025 Operating expenses: Research and development $ 46,933 $ 46,319 $ 92,837 $ 74,082 Selling, general and administrative 18,142 15,091 41,762 27,274 Total operating expenses 65,075 61,410 134,599 101,356 Loss from operations (65,075 ) (61,410 ) (134,599 ) (101,356 ) Other income (expense), net 5,612 6,215 11,683 12,195 Income tax expense (69 ) (52 ) (120 ) (171 ) Net loss $ (59,532 ) $ (55,247 ) $ (123,036 ) $ (89,332 ) Net loss per share, basic and diluted $ (1.54 ) $ (1.58 ) $ (3.19 ) $ (2.61 ) Weighted-average common shares outstanding, basic and diluted 38,685,565 35,024,592 38,589,035 34,179,364 DISC MEDICINE, INC. CONDENSED CONSOLIDATED BALANCE SHEETS (In thousands) June 30, 2026 December 31, 2025 (Unaudited) Assets Cash, cash equivalents, and marketable securities $ 717,746 $ 791,152 Other current assets 15,015 12,746 Total current assets 732,761 803,898 Non-current assets 2,310 2,981 Total assets $ 735,071 $ 806,879 Liabilities and Stockholders’ Equity Current liabilities $ 30,360 $ 36,641 Non-current liabilities 60,547 30,412 Total liabilities 90,907 67,053 Total stockholders’ equity 644,164 739,826 Total liabilities and stockholders’ equity $ 735,071 $ 806,879

Phase 2Financial StatementPhase 3Clinical ResultASCO

22 Jul 2026

·www.biospace.com

US ‘eroding’ lead in rare diseases a matter of national security: Report

iStock, Zerbor A Congressional advisory panel recommends the U.S. government put supportive policies in place for rare disease drug development, such as a finalized platform designation from the FDA and the allowance of novel trial designs for small patient populations. While the U.S. continues to be the world leader in developing treatments for rare diseases, other countries—China especially—are catching up and could ultimately cause Americans to miss out on crucial medicines, a group of Congressional advisors argues. “Developing novel rare disease treatments in the United States is critical to improving U.S. health outcomes, as well as ensuring U.S. national security,” according to a Tuesday report published by the National Security Commission on Emerging Biotechnology (NSCEB), a legislative advisory board convened by Congress to assess how advances in biotech could direct national defense initiatives. While the U.S. still currently comes ahead of other countries in rare disease innovation, the NSCEB warned that the country’s “lead is eroding” due to its slow and expensive system of drug development. China, meanwhile, has rapidly grown as a key biotech innovator on the global stage, fueled largely by its “accelerated clinical trial pathways and active recruitment” of participants, the group wrote in the report. ezstandalone.cmd.push(function () { ezstandalone.showAds(129); }); Indeed, the Asian nation has hosted more clinical trials than the U.S. since 2020, up from less than 8% in 2010, according to an April report by Stanford University. If the U.S. fails to keep up with China’s progress, largely through policy changes, then “China’s competitive edge in biopharmaceuticals may soon expand into an insurmountable lead and point of geopolitical leverage,” the NSCEB cautioned. Editorial Biotech’s China problem: An issue of national security or economic value for the US? Congressional letters sent to the CEOs of Eli Lilly, Pfizer, Merck, BMS and AbbVie this week voicing concerns about the pharmas’ clinical trials in China highlight an ongoing discrepancy in how government and industry think about the rise of the Asian country’s biotech industry. July 2, 2026 · 6 min read · Jef Akst Read more The U.S. federal government has put in place some policies designed to tamp down on the industry’s Chinese dealmaking rather than bolster drug development. Last year, for instance, president Donald Trump greenlit the BIOSECURE Act , which targets certain Chinese “companies of concern,” flagged as those who could pose national security harms to the U.S., though the final text of the law didn’t name these companies. But initiatives are also underway to expedite drug development in the U.S. Last month, the FDA announced a pilot program to improve clinical trial protocols, with an eye toward minimizing the time from drug identification to a first-in-human study, as well as improving the overall quality of new drug submissions. The regulator has also recently unveiled rare disease–specific policies. In February, for instance, the agency released draft guidance for its plausible mechanism pathway for personalized genetic medicines for diseases affecting very few patients. This framework opens up the possibility of approval for drugs that can demonstrably target a condition’s underlying biological cause. FDA Busy FDA gives rare disease sector complementary pathways, unanswered questions The FDA has expanded the regulatory toolkit during President Donald Trump’s second term, adding new mechanisms for rare diseases while putting the Biden-era platform technology designation into action. June 8, 2026 · 8 min read · Nick Paul Taylor Read more Although the report doesn’t mention these specific programs, the NSCEB does offer policy recommendations that are in line with the FDA’s approach, meant to remove barriers for the industry instead of restricting pipeline development. The commission suggests, for example, that Congress urge the FDA to finalize its platform technology designation program, which allows for the carryover of validated data across programs based on a specific platform. The FDA launched this initiative in 2024 and named Sarepta as the first awardee in June 2025. The biotech’s award was revoked a month later, however, after three deaths were linked to Sarepta’s gene therapy platform. Krystal Biotech won the second platform designation last October. Congress should also find ways to allow novel trial designs for small patient populations, the NSCEB suggests—otherwise a key stumbling block of many rare disease programs. To this end, the FDA in September 2025 unveiled the Rare Disease Evidence Principles . Under this effort, the agency will work with drug sponsors, patients and experts to determine what evidence will be taken into consideration for approval. Only drugs that affect fewer than 1,000 patients in the U.S. are eligible for this program. Likewise key to the rare disease sector is FDA stability, according to Tuesday’s report, which flagged the “persistent staffing shortages and knowledge gaps” at the regulator that render it unable to properly assess emerging technologies and therapies. Notably, thousands of employees were laid off or voluntarily left the FDA last year amid Health Secretary Robert F. Kennedy Jr.’s efforts to overhaul the agency. Nearly 2,000 more staff were expected to get the boot this year, according to a fact-sheet of the regulator’s 2026 budget. The topmost ranks at the FDA have also undergone considerable churn in recent months, marked by the recent departure of Commissioner Marty Makary, as well as his controversial deputies Vinay Prasad and Tracy Beth Høeg . There is some light on this horizon, however, as the FDA is looking to hire some looking to hire some 2,200 people, Acting Chief of Staff and Deputy Commissioner Lowell Zeta said at BIO’s International Convention last month. Under the previous FDA leadership, the rare disease space suffered from contentious decisions and inconsistencies. In February, for instance, Disc Medicine failed to secure an approval for bitopertin, being proposed for a rare blood disorder, amid reports of skepticism from Prasad. In November 2025, the FDA said Phase 1/2 data were no longer enough to support a filing for its uniQure’s Huntington’s disease gene therapy—despite having previously signed off on the biotech’s protocols. The agency has since reversed that reversal , paving the way for uniQure to accelerated approval, which the company plans to do in the third quarter. Huntington’s disease UniQure plans Q3 submission for Huntington’s gene therapy after FDA reverses course—again After a regulatory odyssey that delayed a filing for what would be the first genetic medicine for Huntington’s disease, the FDA has agreed that three-year data from uniQure’s Phase 1/2 trial are sufficient to support an accelerated biologics license application. June 17, 2026 · 4 min read · Heather McKenzie Read more

08 Jul 2026

·www.biospace.com

Through flux and fluidity, FDA keeps coming back to rare disease

iStock, Nadzeya Haroshka Even as FDA approvals for biologic therapies fell in the first half of 2026, regulatory experts are optimistic about a turnaround in the rare disease space after the departure of key leaders at the agency. Still, there will continue to be tension between science and politics. The FDA approved six orphan drugs in the first half of 2026—leaving the agency just six months to match last year’s total of 30. The Center for Biologics Evaluation and Research (CBER)—which regulates gene therapies and therefore many rare disease drugs—approved two orphan drugs in H1, Rocket Pharmaceuticals’ Kresladi for the rare immune disease leukocyte adhesion deficiency-I and Regeneron Pharmaceuticals’ Otarmeni for a genetic form of hearing loss. This compares to between three and nine first-half CBER approvals between 2020 and 2025, according to a Sunday report from Jefferies. The Center for Drug Evaluation and Research (CDER) approved four additional novel rare disease drugs in the first half of 2026, per BioSpace analysis. For Peter Pitts, who previously served as FDA associate commissioner, regulatory action around rare disease drugs in 2026 can be divided into two phases—the first four months of the year under former CBER Director Vinay Prasad and the past eight weeks. “I think with Dr. Prasad’s departure, FDA has returned to its senses as being a partner in innovation rather than a critic of innovation,” Pitts told BioSpace . The FDA’s regulation of rare disease drugs has been perhaps its biggest point of contention with drug companies over the past 18 months—thanks, in large part, to Prasad. Companies like Capricor Therapeutics, uniQure, Biohaven and others were sent on a regulatory—and market—rollercoaster ride as the agency dramatically reversed course after having previously signed off on their registrational studies. But two months ago, the tide began to turn. Prasad left the agency at the end of April, with former FDA Commissioner Marty Makary following him out the door in the middle of May. Acting Commissioner Kyle Diamantas met with rare disease groups at the beginning of June seeking to “repair relations with a sector disappointed by his predecessor,” according to reporting by Reuters . Pitts had a different perspective on the meeting’s purpose, however. “I don’t think it’s a question of mending fences,” he said, adding that no one is singing “kumbaya.” “I think what this indicates is the FDA’s willingness to recognize that sponsors have an equal voice in the process and need to be listened to rather than dictated to,” he continued. Whatever the reason, the regulatory space for rare disease therapies appears to have cleared, with multiple decisions—and advisory committees—scheduled for the second half of this year, including some whose rejections under Makary and Prasad sparked controversy. Last month, Disc Medicine announced it had reached an agreement with the FDA to resubmit for approval of its rare blood disease drug bitopertin—which was rejected in February following criticism from Prasad—supported by the company’s current Phase 3 trial. The agency also did a 180 on uniQure’s Huntington’s disease gene therapy, agreeing that three-year data from the company’s Phase 1/2 trial could support an application for accelerated approval and that a sham-surgery controlled Phase 3 trial may not be necessary, as Makary and Prasad had insisted. Replimune and Saol Therapeutics have each resubmitted rejected therapies after further discussions with the FDA, and REGENXBIO has announced plans to do the same. Rare disease has been a priority for the FDA since the Orphan Drug Act of 1983, Amy Comstock Rick, associate director for Rare Disease Strategy and director of Strategic Coalitions at CDER’s Rare Disease Innovation Hub, told BioSpace on the sidelines of BIO 2026. But with the MAHA report ’s emphasis on common, chronic diseases, “rare may not have had the level of prioritization they’ve had before,” she added. “I think in the last six weeks that’s been brought back a little bit.” FDA Despite chaos and churn, FDA decisions hold mostly steady in H1 2026 Significant leadership instability at the FDA—compounded by continued workforce attrition—led to a slight slowdown in overall regulatory productivity in the first half of this year, but the agency has been catching up of late. July 6, 2026 · 8 min read · Tristan Manalac Read more H2 2026 and beyond The FDA still has a long way to go to match last year’s number of 30 orphan disease approvals . In 2025, rare disease medicines accounted for exactly half of CDER’s nods, with that number at slightly more than half for CBER, Rick said. CBER granted five approvals for novel orphan drugs in 2025, according to Trial Friend. These included Stealth BioTherapeutics’ Forzinity , the first-ever treatment for Barth syndrome, Johnson & Johnson’s Imaavy f or generalized myasthenia gravis and Crinetics’ Palsonify for the rare pituitary condition acromegaly. Crinetics—and Palsonify—were snapped up by Vertex Pharmaceuticals on Tuesday for $10 billion in one of 2026’s largest deals to date. The FDA’s H1 2026 record may reflect what Steven Grossman, president of regulatory and consulting firm HPS Group, called a “lagging indicator.” He noted that this was the case last year. “H1/2025 results are largely a reflection of ‘Phase 3 to NDA and BLA’ progress made during 2024, especially the latter half of the year,” Grossman said in a recent email interview with BioSpace . Moving forward, he predicted that the departures of leaders like Makary and Prasad will have “a small bump in the near-term” on FDA activity as previously delayed or otherwise stalled applications are expedited. Following that, he said, there will be “a larger bump in 2027 as the second half of 2026 becomes devoted to steady leadership, clearer guidance, and engaged staff.” And the rare disease space could benefit from some of the actions taken by the Makary administration. While chronic illness is the clear priority for Health Secretary Robert F. Kennedy Jr., Makary debuted his focus on rare disease early in his tenure, teasing the plausible mechanism pathway in an April 2025 interview on The Megyn Kelly Show. The FDA under Makary issued several new policies and guidance documents related to accelerating therapies for rare disease, including the plausible mechanism pathway —intended to expedite diseases that affect an exceedingly small patient population—and Rare Disease Evidence Principles framework, also for ultrarare diseases. The devil is in the details, however, and drug developers have struggled to get a handle on how exactly they might benefit from these new pathways. Transparency overall was widely considered to be an issue under Makary and Prasad —despite the focus on “radical transparency” touted by Kennedy’s HHS. “There has been a lot of concern in the rare disease community about the patient engagement and advisory committees and the transparency,” Robyn Bent, director of Patient Focused Drug Development at the FDA, told BioSpace at BIO 2026. Some of that concern may be allayed by the recent uptick in advisory committee meetings. The FDA held one adcomm this spring for two AstraZeneca cancer drugs and another for Moderna’s mRNA-based flu vaccine , the application for which Prasad initially refused to even review. Rare disease therapies will get their turn this summer, with meetings scheduled for Capricors ’ previously rejected Duchenne muscular dystrophy cardiomyopathy cell therapy and Replimune ’s twice-rebuffed advanced melanoma therapy. “We did hear that Kyle Diamantas . . . said he wanted more adcomms, and so we’re kind of wondering if this is sort of in response to that,” Capricor CEO Linda Marbán said during an interview with BioSpace last month. Duchenne muscular dystrophy Capricor thrown for another loop as FDA sets adcomm for DMD cardiomyopathy therapy The FDA plans to hold an advisory committee meeting to discuss Capricor Therapeutics’ application for deramiocel, which the agency rejected last July. The news surprised CEO Linda Marbán, who told BioSpace the FDA has not communicated any issues of concern with the company’s resubmitted application. June 26, 2026 · 4 min read · Heather McKenzie Read more While biotech—and the rare disease space—appear to be on an upswing, Suzanne Levy Friedman, a partner at law firm Honigman focused on the FDA, said she expects there will be continued “tension” at the regulator between science and politics. “There’s obviously a lot of talk about how this administration has affected the FDA, as compared to the Biden administration before it and even the first Trump administration,” Levy Friedman told BioSpace . However, she added that there is a consistent theme that sometimes gets missed. “It’s not, is this a Democratic administration or a Republican administration.” she continued. “It’s just kind of like you’ve got the people who are more focused on the science and then the people who are more focused on the politics, and somehow those things are butting heads and not always agreeing. “I think we’re going to continue to see . . . this tension between how do we protect patients and how do we at the same time foster American innovation?”

Phase 3Drug Approval

100 Deals associated with Bitopertin

External Link

KEGG	Wiki	ATC	Drug Bank
D10186	Bitopertin	-	DB12426

R&D Status

10 top R&D records.

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Indication	Highest Phase	Country/Location	Organization	Date
Protoporphyria, Erythropoietic	NDA/BLA	United States	Disc Medicine, Inc.	30 Sep 2025
Protoporphyria, Erythropoietic, X-Linked Dominant	NDA/BLA	United States	Disc Medicine, Inc.	30 Sep 2025
Porphyria, Erythropoietic	Phase 3	United States	Disc Medicine, Inc.	04 Apr 2025
Porphyria, Erythropoietic	Phase 3	Australia	Disc Medicine, Inc.	04 Apr 2025
Porphyria, Erythropoietic	Phase 3	Belgium	Disc Medicine, Inc.	04 Apr 2025
Porphyria, Erythropoietic	Phase 3	Canada	Disc Medicine, Inc.	04 Apr 2025
Porphyria, Erythropoietic	Phase 3	France	Disc Medicine, Inc.	04 Apr 2025
Porphyria, Erythropoietic	Phase 3	Germany	Disc Medicine, Inc.	04 Apr 2025
Porphyria, Erythropoietic	Phase 3	Ireland	Disc Medicine, Inc.	04 Apr 2025
Porphyria, Erythropoietic	Phase 3	Italy	Disc Medicine, Inc.	04 Apr 2025

Clinical Result

Indication

Phase

Evaluation

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Study	Phase	Population	Analyzed Enrollment	Group	Results	Evaluation	Publication Date


NCT05828108 (CTgov)	Phase 1/2	Diamond-Blackfan Anemia 1 \| Anemia, Diamond-Blackfan	15	Bitopertin	xdamztwkan = xzszvucvzt locvcwquko (irmzktcgvi, cxkhzqvpcy - zxfchfcbuy) View more	-	30 Jun 2026
NCT05883748 (HELIOS, EHA2026)	Phase 2	Protoporphyria, Erythropoietic \| Protoporphyria, Erythropoietic, X-Linked Dominant	86	Bitopertin 60 mg	khmrcvqrqq(bquwipmogh) = jniidbtdlp pibnjcumyd (ptrzgrzsbu ) View more	Positive	12 May 2026
NCT05308472 (AURORA, CTgov)	Phase 2	Porphyria, Erythropoietic \| Protoporphyria, Erythropoietic	75	Placebo	svsdvvhehh(zntcrxlhaa) = obeyioxzwm irwuwsgbay (uwcphiwwpk, yzklriwbgi - lgsnvehhcv) View more	-	08 Jan 2026
NCT05308472 (AURORA, ASH2024) Manual	Phase 2	Protoporphyria, Erythropoietic	75	Bitopertin 20mg	sybptssuac(mcjvythfvz) = nearly all treatment-emergent adverse events were mild to moderate in intensity ukhbvwoplg (pnckycdshi ) View more	Positive	07 Dec 2024
NCT05308472 (AURORA, ASH2024) Manual	Phase 2	Protoporphyria, Erythropoietic	75	Bitopertin 60mg		Positive	07 Dec 2024
ACTRN12622000799752 (BEACON, ASH2024) Manual	Phase 2	Protoporphyria, Erythropoietic	22	Bitopertin 20 mg	wnijwjumas(bpidtihwtb) = jnauxpdesi szfzdoubet (pwudvgzdig, 7.1) View more	Positive	07 Dec 2024
ACTRN12622000799752 (BEACON, ASH2024) Manual	Phase 2	Protoporphyria, Erythropoietic	22	Bitopertin 60 mg	wnijwjumas(bpidtihwtb) = bawnhtckgz szfzdoubet (pwudvgzdig, 7.0) View more	Positive	07 Dec 2024
ACTRN12622000799752 (BEACON, EHA2024) Manual	Phase 2	Protoporphyria, Erythropoietic PPIX	22	Bitopertin 20 mg	fwzcqldnth(aakrhonbrw) = prkjuizovg mgnozwplqs (eqyveoufvr ) View more	Positive	14 May 2024
NCT05308472 (AURORA, GlobeNewswire) Manual	Phase 2	Porphyria, Erythropoietic \| Protoporphyria, Erythropoietic	75	bitopertin 20 mg	egmpiwetoy(pfzrfdlgxp) = cvamduqzpq idhcslienx (rymwnbgssd ) Met View more	Positive	01 Apr 2024
NCT05308472 (AURORA, GlobeNewswire) Manual	Phase 2	Porphyria, Erythropoietic \| Protoporphyria, Erythropoietic	75	bitopertin 60 mg	egmpiwetoy(pfzrfdlgxp) = zrwtrcelpe idhcslienx (rymwnbgssd ) Met View more	Positive	01 Apr 2024
ACTRN12622000799752 (BEACON, AAD2024)	Phase 2	Protoporphyria, Erythropoietic	22	Bitopertin 20 mg	dgasfgcoxt(xriorzowzy) = wrawntxoqh nbkxlqhkdk (oynfflyqjj ) View more	Positive	08 Mar 2024
ACTRN12622000799752 (Beacon, ASH2023) Manual	Phase 2	Protoporphyria, Erythropoietic	17	Bitopertin	zedrbihlnv(uyttjtatev) = jzmwusxurp dnjgrmyhhd (cenngfswam, 17) View more	Positive	11 Dec 2023
NCT01116830 (Pubmed \| J Clin Psychopharmacol) Manual	Phase 1	Schizophrenia	29	bitopertin	sawludhcfs(alfcbsvoyt) = uxgaoijnlu tyzkjlzbfn (nuqmporsvg, 7.4) View more	Negative	01 Aug 2017
NCT01116830 (Pubmed \| J Clin Psychopharmacol) Manual	Phase 1	Schizophrenia	29	Placebo	sawludhcfs(alfcbsvoyt) = mfdrwqrrgg tyzkjlzbfn (nuqmporsvg, 11.5) View more	Negative	01 Aug 2017

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