🧬 This Week in Rare Diseases: Positive DMD Results, FDA Approves Selumetinib  and More
This week’s Rare Diseases roundup spotlights pivotal advances and regulatory moves in neuromuscular, metabolic, and hematologic conditions. From RNA-targeted breakthroughs to antifungal expansion—here’s what matters now.
In Today’s Newsletter
💊 Avidity Biosciences – Positive DMD Results from Del-zota [1]
Context: Avidity Biosciences reported positive results from its EXPLORE44® and EXPLORE44-OLE™ trials of Del-zota in Duchenne muscular dystrophy (DMD), showing reversal of disease progression with unprecedented improvements in multiple functional measures. The data indicated near-normal levels of creatine kinase (CK) and a 25% increase in dystrophin production.
Key point: Avidity remains on track to submit a Biologics License Application (BLA) for accelerated approval by the end of 2025.
Implication: Clinical advances in DMD: Del-zota shows promise as a potential breakthrough in DMD treatment, a rare genetic condition with no current cure.
🧬 FDA Approves Selumetinib for Pediatric NF1 [2]
Context: Selumetinib (KOSELUGO) was approved by the FDA for pediatric patients aged 1+ with symptomatic, inoperable plexiform neurofibromas (PN) in neurofibromatosis type 1 (NF1).
Key point: This approval expands the age range of previously approved selumetinib capsules (for children aged 2 and older) to include younger patients with NF1.
Implication: Regulatory advancement: Approval of selumetinib for younger children provides a new treatment option for a rare and progressive disorder with limited therapy options.
🧪 Maze Therapeutics Announces Phase 1 Results for MZE782 [3]
https://ir.mazetx.com/news-releases/news-release-details/maze-therapeutics-announces-positive-first-human-results-phase-1
Context: Maze Therapeutics’ MZE782, an oral SLC6A19 inhibitor, demonstrated robust safety and target engagement in a Phase 1 trial for phenylketonuria (PKU) and chronic kidney disease (CKD). The study showed dose-dependent increases in urinary phenylalanine excretion.
Key point: MZE782 moves into Phase 2 trials for both PKU and CKD, expected to start in 2026.
Implication: Clinical development: Positive Phase 1 results support further investigation of MZE782 as a potential first-in-class treatment for PKU and CKD, addressing unmet medical needs.
❌ Intercept Pharmaceuticals Withdraws OCALIVA® from US Market [4]
https://www.interceptpharma.com/about-us/news/?id=3148535
Context: Intercept Pharmaceuticals announced the voluntary withdrawal of OCALIVA® (obeticholic acid) from the U.S. market for the treatment of primary biliary cholangitis (PBC) after a request from the FDA. All clinical trials involving obeticholic acid are placed on hold.
Key point: Despite the withdrawal, OCALIVA® had been a key therapy for PBC, and this move raises concerns about the FDA’s approach to rare disease treatment approvals.
Implication: Regulatory landscape: The withdrawal of OCALIVA® may prompt questions about FDA’s stance on risk/benefit evaluations for rare diseases.
🧠Mandos Health Presents Adrabetadex Data at ANA Meeting [5]
Context: Mandos Health presented new data for its investigational drug adrabetadex in Niemann-Pick Disease Type C (NPC) at the American Neurological Association (ANA) Annual Meeting. The data indicated significant survival benefits and improvement in biomarkers for NPC patients.
Key point: Adrabetadex is showing potential as a disease-modifying therapy for NPC, a severe neurodegenerative disorder.
Implication: Clinical trial updates: The data suggest that adrabetadex could alter the course of NPC, offering new hope for patients with this rare disease.
🏅 Viridian Therapeutics Completes Enrollment in REVEAL Trials [6]
Context: Viridian Therapeutics has completed enrollment in both REVEAL-1 and REVEAL-2 Phase 3 trials for VRDN-003, a monoclonal antibody targeting the insulin-like growth factor-1 receptor (IGF-1R) in thyroid eye disease (TED).
Key point: The company expects topline data in 2026, with a BLA submission for VRDN-003 scheduled for late 2026.
Implication: Clinical development: The completion of enrollment in these large trials signals strong demand for new TED treatments and sets the stage for future regulatory filings.
💉 Akeso’s Ligufalimab Receives FDA Orphan Drug Designation for AML [7]
https://www.taiwannews.com.tw/news/6201154
Context: Akeso’s Ligufalimab (AK117) has received FDA Orphan Drug Designation for the treatment of acute myeloid leukemia (AML). The monoclonal antibody is being studied in oncology trials.
Key point: Ligufalimab targets CD47, a protein involved in immune evasion by tumor cells, and could enhance macrophage-mediated phagocytosis in AML treatment.
Implication: Oncology: Orphan drug designation accelerates Ligufalimab’s development, making it a promising treatment for patients with AML.
đź’° Basilea Secures $25 Million Funding from BARDA [8]
Context: Basilea Pharmaceutica has secured $25 million in funding from BARDA to advance the development of its antifungal therapies fosmanogepix and BAL2062.
Key point: The funding will support the ongoing Phase 3 studies for fosmanogepix and Phase 2 studies for BAL2062.
Implication: Public health: This investment is crucial for developing novel treatments for life-threatening fungal infections, an area with significant unmet need.
Why it matters
- Avidity’s DMD Progression Reversal signals a major step forward in the use of RNA-targeted therapies for genetic disorders.
- FDA’s approval of Selumetinib offers a critical treatment option for pediatric NF1 patients, expanding the age range for a novel therapy.
- Maze’s MZE782 moves toward Phase 2 trials with encouraging results for PKU and CKD, indicating potential breakthrough treatments.
- Intercept’s OCALIVA® withdrawal raises concerns about FDA’s evaluation process for rare disease treatments and long-term therapy risks.
- Mandos Health’s adrabetadex offers new hope for NPC patients, with survival benefits in early-onset cases.
- Viridian’s REVEAL trials continue to progress in TED, with potential to reshape treatment options for thyroid eye disease.
- Akeso’s Ligufalimab is positioned to significantly impact AML treatment, with Orphan Drug Designation accelerating its path to approval.
- Basilea’s BARDA funding secures continued support for antifungal treatments, addressing critical public health needs.
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FAQ
What is the status of Del-zota for DMD?
Avidity Biosciences’ Del-zota is showing impressive results in DMD trials, with a BLA submission expected by the end of 2025. [1]
What does the approval of Selumetinib mean for pediatric NF1 patients?
This approval expands treatment options for younger children with inoperable plexiform neurofibromas (PN), a rare and difficult-to-treat condition. [2]
What are Maze Therapeutics’ plans for MZE782?
Maze will advance MZE782 to Phase 2 trials for PKU and CKD in 2026, after promising Phase 1 results. [3]
Why was OCALIVA® withdrawn from the US market?
Intercept Pharmaceuticals withdrew OCALIVA® after the FDA requested the removal due to regulatory concerns. [4]
What are the key findings in Mandos Health’s NPC data?
The data on adrabetadex in NPC patients showed significant survival benefits, particularly in early-onset cases. [5]
What is the impact of Viridian’s REVEAL trials for VRDN-003?
The completion of enrollment in REVEAL-1 and REVEAL-2 trials for TED sets the stage for regulatory submissions in the coming years. [6]
What’s next for Ligufalimab in AML?
Akeso’s Ligufalimab has received Orphan Drug Designation for AML and is in ongoing trials for oncology indications. [7]
What’s the significance of Basilea’s BARDA funding?
Basilea received $25 million in funding to support the development of novel antifungal agents, addressing significant gaps in treatment options for life-threatening fungal infections. [8]
Entities / Keywords
Avidity Biosciences; Del-zota; DMD; RNA-targeted therapies; FDA BLA; Selumetinib; NF1; Maze Therapeutics; MZE782; PKU; CKD; Intercept Pharmaceuticals; OCALIVA®; BARDA; Basilea Pharmaceutica; antifungals; Mandos Health; adrabetadex; Niemann-Pick Disease; Viridian Therapeutics; VRDN-003; TED; Akeso; Ligufalimab; AML.
References
https://www.interceptpharma.com/about-us/news/?id=3148535