With unparalleled knowledge of ... Products (COMP), <strong>grants orphan designation to drugs targeting life-threatening or chronically debilitating conditions affecting no more than 5 in 10,000 people in the EU</strong>....

Original title: “EMA Orphan Drug Designation Services | Only Orphans Cote”

Development of an orphan-designated ... drugs approved by the US Food and Drug Administration (FDA)’s Center for Drug Evaluation and Research (CDER) had orphan designation (5). In addition, not specific to but applicable also for orphan-designated drugs, expedited regulatory programs as offered by the FDA and the European Medicines Agency (EMA), in the US and the EU, respectively, support the development of drugs (e.g., breakthrough therapy designation ...

Original title: “Frontiers | Clinical development and marketing application review times for novel orphan-designated drugs”

For both CBER and CDER, the program ... (CMC) development aligns with clinical development. For CBER, eligible products must be a gene or cellular therapy intended to address an unmet medical need as a treatment for a serious rare disease or condition, which is likely to lead ...

Original title: “Support for clinical Trials Advancing Rare disease Therapeutics (START) Pilot Program | FDA”

Both have collected natural history data and contributed to the development of new diagnostic techniques, clinical guidelines and new therapy trials for primary mitochondrial diseases (PMDs). To accelerate drug approval for serious rare diseases without alternative treatments, phases I–III of clinical trials can be adapted to integrate traditional phases II and III within a single study design.

Original title: “Designing clinical trials for rare diseases: unique challenges and opportunities - PMC”

Following the transfer of the IND for giroctocogene fitelparvovec (formerly SB-525, now PF-07055480), we initiated our Phase 3 trial evaluating giroctocogene fitelparvovec gene therapy for the treatment of severe hemophilia A. The future is here. By digging deeper, asking bold questions, and leading scientific innovation, Pfizer Rare Disease is striving to go beyond disease control toward developing potentially transformative medicines and supporting healthy living at all stages of life.

Original title: “Rare Disease Drug Pipeline and Clinical Trials | Pfizer”

Although the first cases were described almost 200 years ago,7 there are still no proven disease-modifying therapy for any form of neuronal ceroid lipofuscinosis. Since 1977, there have been at least 5 completed prospective parallel group clinical trials and 19 case reports, series, or open-label studies addressing treatments for infantile, late-infantile, and juvenile neuronal ceroid lipofuscinosis (Table 1).

Original title: “Clinical Trials in Rare Disease: Challenges and Opportunities - PMC”

In 2024, the U.S. Food and Drug ... for clinical Trials Advancing Rare disease Therapeutics (START) Pilot Program, with the stated purpose to further accelerate the pace of development of novel drug and biological products that are intended to address an unmet medical need as a treatment for a rare ... In 2024, the U.S. Food and Drug Administration (FDA) selected DNL126 for participation in the Support for clinical Trials Advancing Rare disease Therapeutics (START) Pilot Program, with the stated purpose to further accelerate the pace of development of novel drug and biological products that are intended to address an unmet medical need as a treatment for a rare disease. Denali Therapeutics Inc. Analysis from continued follow-up of Phase 1/2 clinical trial data in Hunter syndrome (MPS II) reinforces potential for tividenofusp alfa (DNL310) to address full disease spectrum · Launch readiness established in anticipation of April 5, 2026, Prescription Drug User Fee Act (PDUFA) date for tividenofusp alfa · Preliminary Phase 1/2 study data show treatment with DNL126 (ETV:SGSH) substantially reduced disease biomarkers in cerebrospinal fluid (CSF) and peripheral tissues, including an 80% mean reduction in CSF heparan sulfate, in Sanfilippo syndrome type A (MPS IIIA); safety profile generally consistent with established enzyme replacement therapies Denali also highlighted data from a case study of two male siblings with non-neuronopathic MPS II enrolled in the Phase 1/2 trial, which further supports the potential of tividenofusp alfa to address the full disease spectrum. DNL126 (ETV:SGSH) for Sanfilippo syndrome type A (MPS IIIA) The ongoing Phase 1/2 study of the investigational therapy DNL126 (ETV:SGSH) is fully enrolled with a total of 20 participants and is an open-label, 25-week study followed by an open-label extension period through 193 weeks. Preliminary data as of the clinical data cut-off (June 4, 2025) were presented, including biomarker results from the dose-finding cohorts (n=8) and safety data from the dose-finding and efficacy cohorts (n=14). An analysis from continued follow-up of the Phase 1/2 study of the investigational therapy tividenofusp alfa (DNL310) for MPS II showed that rapid, substantial reduction from baseline and normalization of cerebrospinal fluid heparan sulfate (CFS HS) and urine HS, both key biomarkers of disease, resulting from treatment was maintained through Week 201 (as of the clinical data cut-off of March 28, 2025).

Original title: “Denali Therapeutics Presents Enzyme TransportVehicle™ Progress Across Three Clinical Programs for Treatment of Lysosomal Storage Disorders at 2026 WORLDSymposium™”

The drug received breakthrough therapy and orphan drug designation as a monotherapy for the treatment of chronic graft-versus-host-disease. The drug received breakthrough therapy and orphan drug designation as a monotherapy for the treatment of chronic graft-versus-host-disease. ... On June 29, 2016 FDA granted Imbruvica (ibrutinib) Breakthrough Therapy designation and Orphan Drug designation as a monotherapy for the treatment of patients with chronic graft-versus-host-disease (cGVHD) after failure or one more lines of systematic therapy.

Original title: “Ibrutinib Receives Orphan Drug and Breakthrough Therapy Designation for cGVHD | BioPharm International”

Novel immunotherapy combinations are now available for second or later-line therapy for follicular lymphoma. The addition of tafasitamab, an anti-CD19 antibody, or epcoritamab, a CD20 × CD3 bispecific antibody, to lenalidomide–rituximab (R2) has demonstrated promising efficacy. Nature Reviews Clinical Oncology (2026)Cite this article ... Novel immunotherapy combinations are now available for second or later-line therapy for follicular lymphoma. The addition of tafasitamab, an anti-CD19 antibody, or epcoritamab, a CD20 × CD3 bispecific antibody, to lenalidomide–rituximab (R2) has demonstrated promising efficacy. Herein, I compare recent phase III trials testing each combination and discuss their practical implications. Nature Reviews Clinical Oncology - Novel immunotherapy combinations are now available for second or later-line therapy for follicular lymphoma. The addition of tafasitamab, an anti-CD19 antibody,... L.J.N. has received honoraria for participation in advisory boards from AstraZeneca, BMS, Genentech, Genmab, Johnson & Johnson, Novartis and Regeneron; and served as principal investigator for the CELESTIMO trial. Sehn, L. H. et al. Tafasitamab, lenalidomide, and rituximab in relapsed or refractory follicular lymphoma (inMIND): a global, phase 3, randomised controlled trial.

Original title: “Beyond the R² horizon: new triplet regimens for relapsed and/or refractory follicular lymphoma | Nature Reviews Clinical Oncology”

The FDA has placed clinical holds on a pair of investigational gene therapies developed to address two rare neurodevelopmental disorders in children, according to the manufacturer. In a press release, RegenXBio Inc. said that a study of RGX-111 for the treatment of mucopolysaccharidosis type ... The FDA has placed clinical holds on a pair of investigational gene therapies developed to address two rare neurodevelopmental disorders in children, according to the manufacturer. In a press release, RegenXBio Inc. said that a study of RGX-111 for the treatment of mucopolysaccharidosis type I (MPS I), also known as Hurler syndrome, has been halted due to a single case of neoplasm (intraventricular CNS tumor) discovered in a participant treated in a phase 1/2 clinical trial. “As independent researchers, clinicians and patient advocates advancing novel approaches for rare diseases, we share in the field’s deep sadness that a trial participant receiving an experimental gene therapy experienced a serious adverse event,” Jeff Auletta, MD, senior vice president at the National Marrow Donor Program and co-scientific director of the Center for International Blood and Marrow Transplant Research, told Healio. The FDA put a similar hold on a study investigating RGX-121 to treat mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, due to similarities between the products and the clinical trials. “The FDA is wrong on several fronts,” Scott Loiler, PhD, chief scientific officer of the National MPS Society, told Healio. “Current standard of care for newly diagnosed MPS in children is hematopoietic stem cell transplantation, which has a mortality rate of greater than 10%, or enzyme replacement therapy, which does not cross the blood-brain barrier, so kids have neurological decline over time. “The FDA does not have a clear scientific rationale to hold RGX-121 other than they are not prepared to decide on their [biologics license application] and this is just another mechanism to delay these life-changing therapies from reaching the patients in desperate need,” Loiler told Healio. Jeff Auletta, MD, and Scott Loiler, PhD, can be reached at [email protected]. ... Disclosures: Loiler is employed by the National MPS Society. Auletta is employed by the National Marrow Donor Program. Ask a clinical question and tap into Healio AI's knowledge base.

Original title: “FDA places clinical holds on gene therapies for rare neurodevelopmental conditions”

With data from a mid-stage trial showing weight loss of up to 12.3% at 28 weeks in patients treated with PF’3944, "Pfizer is moving full speed into obesity clinical development,” BMO Capital Markets said Tuesday.

Original title: “Pfizer’s First Weight-Loss Data After Metsera Buy ‘Look Competitive’”

While CagriSema bested Novo Nordisk's Wegovy on blood sugar control in a late-stage trial, the next-gen weight loss drug still has not met the pharma's 25% weight loss goal.

Original title: “Novo’s Next-Gen Obesity Drug Beats Wegovy on Blood Sugar Control in Phase III”

Perovial is the first ever hyaluronic acid injectable treatment to be licensed for acute Peyronie’s disease

Original title: “IBSA UK&I launches Perovial for the treatment of acute Peyronie’s disease”

Taysha also disclosed that it has received written alignment from the FDA on elements of a potential BLA strategy for TSHA-102. We expect to complete dosing across our REVEAL and ASPIRE trials in the second quarter of 2026. With an estimated 15,000 to 20,000 patients affected by Rett syndrome across the United States, European Union, and United Kingdom and compelling REVEAL Part A clinical data, we see a significant opportunity to redefine the treatment paradigm for this devastating disease with high unmet need.” “Breakthrough therapy designation highlights the FDA’s recognition of both the significant unmet medical need across the estimated 10,000 patients suffering from Rett syndrome in the United States and the potential of TSHA-102 to redefine the treatment paradigm for this devastating disease,” Rumana Haque-Ahmed, the chief regulatory officer of Taysha, said in an October 2025 statement.2 “This designation was granted following the FDA’s review of available clinical data from the 12 patients treated in part A of our REVEAL trials, which support the potential of TSHA-102 to improve function and enable achievement of developmental milestones across core areas of disease that may significantly impact patient and caregiver lives. Taysha Gene Therapies has dosed the first patient in the pivotal phase 3 portion (Part B) of the REVEAL clinical trial (NCT05606614), which is assessing the investigational adeno-associated virus (AAV) vector–based gene therapy TSHA-102 for the treatment of Rett syndrome.¹ In conjunction with the dosing announcement, Taysha disclosed that it has received written alignment from the FDA on elements of a potential biologics license application (BLA) strategy for TSHA-102. This alignment pertains to a separate planned clinical trial, ASPIRE (NCT identifier pending), which will evaluate the gene therapy in 3 girls aged 2 to less than 4 years.

Original title: “Pivotal Trial for Taysha's Rett Syndrome Gene Therapy TSHA-102 Doses First Patient | CGTlive®”

The Digital Medicine Society (DiME) ... rare disease trials. The framework aims to make trials faster and more efficient, giving researchers and drugmakers a practical roadmap for developing new therapies for children who often have no effective treatment options. ... The Digital Medicine Society (DiME) has launched a new set of digital clinical measures to ... The Digital Medicine Society (DiME) launched a new set of FDA-aligned digital measures to standardize how outcomes are tracked in pediatric rare disease trials. The framework aims to make trials faster and more efficient, giving researchers and drugmakers a practical roadmap for developing new therapies for children who often have no effective treatment options. ... The Digital Medicine Society (DiME) has launched a new set of digital clinical measures to accelerate the development of pediatric rare disease treatments in collaboration with partners including the FDA, BioMarin, Northwestern Medicine and Stanford Medicine. Goldsack pointed out that rare disease trials face commercial challenges — even curative therapies often fail to be commercialized because the cost of trials cannot be recouped from tiny patient populations. To address these gaps, DiME collaborated with its network of partners to develop a playbook outlining core domains common to pediatric rare diseases — including mobility, cognition, sleep, and seizures — and provided standardized measures for use in research and clinical trials, she explained. The set of measures, released Thursday, aim to give researchers and drugmakers standardized endpoints to evaluate treatment effectiveness and speed clinical development in pediatric rare diseases, an area long challenged by small trials and inconsistent approaches to measuring outcomes. By standardizing how outcomes are measured, DiME hopes to make trial data more efficient and comparable across studies, potentially reducing the time it takes for new therapies to reach children. ... Alan Murray on improving access for medical transportation. ... This approach could be particularly transformative in rare diseases, where patient populations are small and every data point counts, noted DiME CEO Jen Goldsack.

Original title: “How DiME’s New Pediatric Rare Disease Project Could Make Clinical Trials Faster - MedCity News”

CagriSema’s blood sugar and weight reductions exceeded the company’s blockbuster Wegovy, yet the drug might still struggle to rival Lilly's Zepbound.

Original title: “Novo combination obesity shot meets goal in diabetes trial”

The drug, which has suffered multiple setbacks over the years, could finally reach the market as a treatment for a form of Gaucher disease.

Original title: “Sanofi drug, inherited from Genzyme, goes 1-for-2 in rare disease trials”

The US sees around 476,000 new Lyme cases every year

Original title: “En Carta Diagnostics’ EC Pocket Lyme test receives FDA Breakthrough Device Designation”

Anaphylaxis is the most serious type of allergic reaction and occurs more commonly in boys

Original title: “ALK’s EURneffy receives positive CHMP opinion for emergency anaphylaxis treatment in children”

Sanofi will take venglustat to regulators for Gaucher disease but an application for Fabry disease is less clear after the failure of a Phase III trial.

Original title: “Sanofi Rare Disease Drug Scores a Hit and a Miss in Phase III Tests”