Gaucher Disease, Type 1

The capsule is intended for patients with Type 1 Gaucher disease. Credit: Sirikarn Rinruesee/Shutterstock.com. Edenbridge Pharmaceuticals has selected PANTHERx Rare to distribute Yargesa (miglustat) capsules for the treatment of Type 1 Gaucher disease. The medication represents the first oral treatment option for adults with mild to moderate disease who are unable to use enzyme replacement therapy. The glucosylceramide synthase inhibitor Yargesa exerts its effects through the substrate reduction therapy process. This treatment method lessens the accumulation of harmful glycosphingolipids, thereby reducing symptoms. Gaucher disease is a rare genetic disorder characterised by a deficiency in the glucocerebrosidase enzyme, which leads to the build-up of a lipid known as glucosylceramide. See Also: Lonza Group gets grant for patent granted for capsule composition with pullulan, setting system, surfactant MediciNova gets grant for ibudilast higher dosage oral tablet or capsule formulations PANTHERx Rare Pharmacy CEO Rob Snyder stated: “We appreciate Edenbridge Pharmaceuticals’ commitment to making a difference in the lives of patients with Type 1 Gaucher disease. “We are looking forward to serving the needs of the patients dealing with this illness, by streamlining the process associated with getting rare medications from the people who create them to the people who need them most, ultimately delivering better health outcomes to people living with rare diseases.” In February 2024, Chiesi Global Rare Diseases, a Chiesi Group business unit, selected PANTHERx Rare for the distribution of Filsuvez topical gel. Filsuvez topical gel treats wounds associated with dystrophic as well as junctional epidermolysis bullosa in adults and paediatric patients aged six months and above.

PITTSBURGH, April 1, 2024 /PRNewswire/ -- PANTHERx®Rare, a leader in rare disease product patient access and support services in the United States, is pleased to announce that it was selected by Edenbridge Pharmaceuticals for the distribution of Yargesa® (miglustat) capsules, the first oral treatment option for adults with mild to moderate Type 1 Gaucher disease for whom enzyme replacement therapy is not a therapeutic option. Yargesa® is a glucosylceramide synthase inhibitor that exerts its effects through a process called substrate reduction therapy. Through this process, Yargesa® reduces the buildup of harmful glycosphingolipids and symptoms of the disease. Gaucher disease is a rare, genetic lysosomal storage disorder where individuals lack the functioning glucocerebrosidase enzyme leading to the accumulation of a certain lipid known as glucosylceramide. This accumulation leads to manifestations including but not limited to enlarged spleen or liver, hepatomegaly, anemia, thrombocytopenia, and bone pain. "We appreciate Edenbridge Pharmaceuticals' commitment to making a difference in the lives of patients with Type 1 Gaucher disease. We are looking forward to serving the needs of the patients dealing with this illness, by streamlining the process associated with getting rare medications from the people who create them to the people who need them most, ultimately delivering better health outcomes to people living with rare diseases," said Rob Snyder, CEO of PANTHERx® Rare Pharmacy. About PANTHERx Rare PANTHERx Rare is a dual-accredited specialty pharmacy focused on rare and orphan disease, distributing several orphan products and providing access and support services to those needing them most. PANTHERx transforms lives by delivering medicine breakthroughs, clinical excellence, and access solutions to people living with rare and devastating conditions. While each rare condition affects few people, together all rare diseases impact an estimated 25 to 30 million Americans. Currently over 7,000 rare diseases have been identified and more than 90% of rare diseases are still without an FDA-approved treatment. Changes in federal policy and advances in science have led to a surge in FDA orphan drug approvals, providing tremendous hope to the rare disease community. PANTHERx is a dual-accredited specialty pharmacy, holding distinctions in rare disease including the Accreditation Commission for Health Care (ACHC) Distinction in Orphan Drugs and Utilization Review Accreditation Commission (URAC) Rare Disease Center of Excellence. As a pharmacy focused on patient satisfaction, PANTHERx is now a six-time winner of the prestigious MMIT Patient Choice Award, including the 2023 honor. PANTHERx is headquartered in Pittsburgh, Pennsylvania and is licensed in all 50 states and US territories. References: National Human Genome Research Institute. About Gaucher Disease | NHGRI. Genome.gov. Accessed January 26, 2024. National Gaucher Foundation. What Is Gaucher Disease? | National Gaucher Foundation. National Gaucher Foundation. Accessed January 26, 2024. NORD. Gaucher Disease - NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders). Accessed January 26, 2024. Stirnemann J, Belmatoug N, Camou F, et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci. 2017;18(2):441. Bennett LL, Mohan D. Gaucher Disease and Its Treatment Options. ANN PHARMACOTHER. 2013;47(9):1182-1193. For more information, please contact marketing@pantherxrare.com

- This first in human clinical study demonstrated that AL01211 was generally safe and well-tolerated at single doses up to 60 mg and at multiple doses up to 30 mg - AL01211 displayed dose dependent pharmacokinetics and the ability to effectively reduce the disease biomarkers glucosylceramide and globotriaosylceramide in healthy volunteers - Topline results from a Phase 2 study of AL01211 in patients with Fabry disease are expected in the second half of 2024 NEWARK, Calif.--(BUSINESS WIRE)-- AceLink Therapeutics, Inc., a clinical-stage biopharmaceutical company developing next generation oral substrate reduction therapies (SRTs), today announced that the findings from their Phase 1 study of AL01211 in healthy volunteers have been published in the peer-reviewed journal Clinical Pharmacology in Drug Development, a journal of the American College of Clinical Pharmacy. AL01211 is a potent, oral, glucosylceramide synthase (GCS) inhibitor being developed for the treatment of Fabry disease and Type 1 Gaucher disease. In contrast to other GCS inhibitors in development, AL01211 has minimal central nervous system penetration (CNS), allowing therapeutic benefits to peripheral organs while avoiding the risk of CNS-associated adverse effects. “These results highlight the transformative potential of AL01211 as a best-in-class GCS inhibitor,” said Jerry Shen, Ph.D., Chief Executive Officer and Founder of AceLink Therapeutics. “Our Phase 1 study provided the critical safety and biomarker data to support our ongoing Phase 2 clinical trial in patients with Fabry Disease. We expect to have topline results of the Phase 2 trial in the second half of 2024.” In the published Phase 1 study, AL01211 was evaluated with a single ascending dose arm and a multiple ascending dose arm to determine the safety, pharmacokinetics (PK), and pharmacodynamic (PD) effects in healthy volunteers. Overall, AL01211 was generally safe and well-tolerated with no serious adverse events. At a 30 mg dose level, plasma glucosylceramide and globotriaosylceramide were reduced from baseline levels by 78% and 52%, respectively, thus supporting AL01211’s further clinical development. “These data reinforce our commitment to provide more convenient and more effective therapeutic options to patients suffering from glycosphingolipid storage diseases such as Fabry disease,” said Michael Babcock, Ph.D., VP of Research and Early Development. “In our trial, AL01211 demonstrated dose-dependent PK and PD effects with a clear correlation between AL01211 exposure and reduction in disease biomarkers. The insights gained from this study have set us up nicely to test the therapeutic benefits of AL01211 in patients.” In October 2023, AceLink Therapeutics dosed its first patient in a Phase 2 open-label study evaluating the safety, PK, and PD of AL01211 in males with classic Fabry disease who have not been previously treated. Topline results from this study are expected in the second half of 2024. About AL01211 AL01211 is a proprietary, non-brain penetrant GCS inhibitor with excellent potency (single-digit nanomolar IC50), great selectivity, and other favorable drug properties that support once-daily oral administration. AL01211 offers a much-needed oral small molecule therapy as an alternative to the frequent intravenous infusions required with enzyme replacement therapy. About GCS inhibitors GCS catalyzes the first step in the synthesis of glycosphingolipids, a group of bioactive molecules that play important roles in various cellular processes and diseases. GCS inhibitors reduce the synthesis of glycosphingolipids, thereby exerting beneficial effects to diseases such as Fabry and Gaucher disease, which are caused by the pathogenic accumulation of these lipids. About AceLink Therapeutics, Inc. Founded in 2018, AceLink Therapeutics is an innovative biopharma startup focusing on developing safe and effective medicines to address genetic diseases with high unmet needs. The company’s initial focus is to develop novel therapeutics for Fabry disease. For more information, please visit .