Positive Niemann-Pick disease type C (NPC) and GM2 gangliosidosis data from nizubaglustat Phase 2 RAINBOW study conducted by Azafaros presented at major metabolic disease conference
10.9.2024 10:00:00 EEST | Business Wire | Press release
Azafaros has announced that data from the ongoing double-blind, placebo-controlled Phase 2 RAINBOW study investigating its lead asset, nizubaglustat in patients with Niemann-Pick disease type C (NPC) or GM2 gangliosidosis, were presented at the Society for the Study of Inborn Errors of Metabolism (SSIEM) annual symposium in Porto, Portugal.
The results of part one of the study, designed to determine the safety, pharmacodynamics, and pharmacokinetics of the Company’s lead asset nizubaglustat, demonstrated the compound had a positive safety profile and was well-tolerated in the 13 participants in the study.
All patients are now enrolled in the extension phase of the trial, where initial unblinded data on 10 patients showed 8 had improved or stabilized SARA (Scale for the Assessment and Rating of Ataxia) scores. Additionally, a reduction in seizure frequency was observed for the participants who had experienced daily seizures before recruitment into the study.
Data from the RAINBOW study will be used to inform the target dose for Azafaros’ planned Phase 3 pivotal studies, due to be initiated 2025.
At the conference, Azafaros also presented 12-month follow-up data from the company’s PRONTO trial, a natural history study of late-infantile/juvenile GM1 and GM2 gangliosidoses.
PRONTO is the largest prospective natural history study of these two rare diseases, providing valuable insights for the further development of nizubaglustat in GM1 and GM2 and for the gangliosidoses research community in general.
Stefano Portolano, MD, CEO of Azafaros, said: “The RAINBOW trial results support the positive safety profile of nizubaglustat and provide us with encouraging early efficacy trends for the compound. We greatly appreciate the opportunity to discuss these data with the scientific community at the SSIEM annual symposium, and believe our compound offers a potential new solution to patients with rare lysosomal storage disorders with neurological involvement where there is a strong unmet medical need. We look forward to using the insights provided by results from both RAINBOW and PRONTO to keep the strong momentum of our clinical program and move the compound into pivotal trials next year.”
Azafaros is thankful to the patients and their families for their participation in the RAINBOW study.
Ends
About the RAINBOW study
The RAINBOW trial is a Phase 2 clinical study designed to evaluate safety, tolerability, pharmacokinetics and pharmacodynamics of AZ-3102 (nizubaglustat) in patients with GM2 and Niemann-Pick type C (NPC) diseases. The study was conducted across three sites in Brazil, involving 13 patients older than 12 years of age. In the first part of the study patients were randomized to receive either a high dose or low dose of nizubaglustat or placebo. All patients continued into the second part of the study where they are randomized to receive either high or low dose nizubaglustat for 52 weeks.
About the PRONTO study
The PRONTO study is a prospective natural history study designed to assess the progression of neurological disease in late-infantile and juvenile GM1 and GM2 gangliosidoses. The study includes participants with a late-infantile/juvenile form, genetic diagnosis, and who are between 2 and 20 years old and the main objective was to provide insight and understanding of disease progression using clinical scales, caregiver questionnaires, and actigraphy. A total of 30 participants were recruited from 6 countries with at least 12-month follow-up data on 21 participants.
About nizubaglustat
Nizubaglustat is a small molecule, orally available and brain penetrant azasugar with a unique dual mode of action, developed as a potential treatment for rare lysosomal storage disorders with neurological involvement, including GM1 and GM2 gangliosidoses and Niemann-Pick disease type C (NPC).
Nizubaglustat has received the following designations and support:
United States Food and Drug Administration (FDA)
Rare Pediatric Disease Designations (RPDD) for the treatment of GM1 and GM2 gangliosidoses and NPC.
Orphan Drug Designations (ODD) for GM2 gangliosidosis (Sandhoff and Tay-Sachs Diseases) and NPC.
IND Clearance and Fast Track Designation for GM1/GM2 gangliosidoses and NPC
European Medicines Agency (EMA)
Orphan Medicinal Product Designation (OMPD) for the treatment of GM2 gangliosidosis.
UK Medicines and Healthcare Products Regulatory Agency (MHRA)
Innovation Passport for the treatment of GM1 and GM2 gangliosidoses.
About GM1 and GM2 Gangliosidoses
GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) are lysosomal storage disorders caused by the accumulation of GM1 or GM2 gangliosides respectively, in the central nervous system (CNS), resulting in progressive and severe neurological impairment and early death. These diseases mostly affect infants and children, and no disease-modifying treatments are currently available.
About Niemann-Pick Disease Type C (NPC)
Niemann-Pick disease type C (NPC) is a progressive, life-limiting neurological lysosomal storage disorder caused by mutations in the NPC1 or NPC2 gene and aberrant endosomal-lysosomal trafficking, leading to the accumulation of various lipids, including gangliosides in the CNS. The onset of disease can happen throughout the lifespan of an affected individual, from prenatal life through adulthood.
About Azafaros
Azafaros is a clinical-stage company founded in 2018 by scientists with a deep understanding of rare genetic disease mechanisms, using discoveries made by scientists at Leiden University and Amsterdam UMC. Azafaros is led by a team of highly experienced industry experts and aims to build a pipeline of disease-modifying therapeutics to offer new treatment options to patients and their families. The Azafaros team is dedicated to rapidly bring new drugs to the rare disease patients who need them. The company is supported by a syndicate of leading investors including Forbion, BioGeneration Ventures (BGV), BioMedPartners, Asahi Kasei Pharma Ventures, and Schroders Capital.
View source version on businesswire.com: https://www.businesswire.com/news/home/20240910536439/en/
Contacts
Azafaros B.V.
Email: info@azafaros.com
www.azafaros.com -
https://cts.businesswire.com/ct/CT?id=smartlink&url=http%3A%2F%2Fwww.azafaros.co
m&esheet=54118405&newsitemid=20240910536439&lan=en-US&anchor=www.azafaros.com&in
dex=7&md5=7cdd87b3a6b217d5680187b41bdecb58
About Business Wire
For more than 50 years, Business Wire has been the global leader in press release distribution and regulatory disclosure.
www.businesswire.com

Subscribe to releases from Business Wire
Subscribe to all the latest releases from Business Wire by registering your e-mail address below. You can unsubscribe at any time.
Latest releases from Business Wire
OM Pharma to Unveil the Largest Multi-Country Real-World Evidence Study on Broncho‑Vaxom® (OM‑85) for RTI Prevention at EAACI 202614.6.2026 11:00:00 EEST | Press release
OM Pharma will reveal preliminary results from the REACH study at the European Academy of Allergy and Clinical Immunology (EAACI) Congress. REACH is the first and largest multi-country real-world evidence (RWE) study to date evaluating the impact of Broncho-Vaxom® in patients with recurrent respiratory tract infections (RTIs).1,2 The findings offer critical new clinical evidence of the therapy's effectiveness in everyday clinical practice. In a real-world cohort of 15,794 paediatric (aged >1 year), adolescent, adult and elderly patients in China, Italy, and Belgium, Broncho-Vaxom® was associated with reductions in RTI recurrence and healthcare utilisation at 12 and 24 months after treatment initiation, compared with the 12 months prior to starting the therapy.1 “The REACH real-world evidence study shows that Broncho-Vaxom® can significantly reduce infections requiring medical visits across age groups and co-morbidities,” said Anna Thomas, Chief Scientific Officer at OM Pharma. “Recurre
Incyte Announces New Positive Data at EHA 2026 Showed INCA033989 Achieved Rapid, Robust and Sustained Clinical and Molecular Responses and Was Well Tolerated in Patients with Myelofibrosis and Essential Thrombocythemia13.6.2026 18:15:00 EEST | Press release
Incyte (Nasdaq:INCY) today announced updated clinical data from two Phase 1 studies evaluating the safety, tolerability and efficacy of INCA033989, a first-in-class mutant calreticulin (mutCALR)-targeted monoclonal antibody, in patients with mutCALR-expressing myeloproliferative neoplasms (MPNs). INCA033989 demonstrated rapid, clinically meaningful responses and consistent molecular activity across both myelofibrosis (MF) and essential thrombocythemia (ET), with convergent evidence supporting the potential for disease modification. These findings are being presented in oral and poster presentations at the European Hematology Association (EHA) 2026 Congress in Stockholm, Sweden (Session: Myeloproliferative neoplasms – Clinical, Presentation numbers: S216, PS1983, PF884). “The data presented at EHA 2026 demonstrate clinically meaningful and consistent responses with INCA033989 across both myelofibrosis and essential thrombocythemia,” said Pablo J. Cagnoni, M.D., President of Incyte and G
Results from Incyte’s Pivotal Phase 3 frontMIND Trial of Tafasitamab (Monjuvi ® /Minjuvi ® ) Combination Presented at the 2026 European Hematology Association (EHA) Congress Plenary Showed Prolonged Progression Free Survival13.6.2026 13:00:00 EEST | Press release
Incyte (Nasdaq:INCY) today announced positive results from the pivotal Phase 3 frontMIND trial evaluating the efficacy and safety of tafasitamab (Monjuvi®/Minjuvi®), a humanized Fc-modified cytolytic CD19-targeting monoclonal antibody, and lenalidomide added to R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone; Tafa-Len-R-CHOP) versus R-CHOP, the current standard of care, as a first-line treatment for adults with previously untreated diffuse large B-cell lymphoma (DLBCL) or high-grade B-cell lymphoma (HGBL). Eligible patients had an International Prognostic Index (IPI) score of 3-5, or, for patients ≤60 years of age, an age-adjusted IPI (aaIPI) of 2-3. These data are being highlighted in a prestigious Plenary Abstracts Session at the European Hematology Association (EHA) 2026 Congress, being held June 11 - 14, 2026, in Stockholm, Sweden (Abstract # S101. Plenary Abstract Session. June 13, 6:00 - 7:30 a.m. ET [12:00-1:30 p.m. CEST]). frontMIND results were als
Charlotte Tilbury awarded CBE in the King’s Birthday Honours 202613.6.2026 00:31:00 EEST | Press release
Charlotte Tilbury CBE, sole Founder, President, Chairman and Chief Creative Officer of Charlotte Tilbury Beauty, has been awarded a Commander of the Order of the British Empire (CBE) in the King’s Birthday Honours 2026 for services to the beauty and cosmetics industry. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260612679101/en/ Charlotte Tilbury, founder, president, chairman and chief creative officer of Charlotte Tilbury Beauty, who has been awarded a CBE (Commander of the Order of the British Empire) in 2026 for services to the beauty industry and entrepreneurship. (Photo: Charlotte Tilbury team) This honour recognises Charlotte’s contribution to leading and building Britain’s most successful global beauty brand. She has played a defining role in revolutionising the beauty industry and driving economic growth of the UK beauty sector, which has expanded from approximately £17bn in 2013 to over £31bn today. Charlotte Til
IQM Appoints Barbara Venneman, Vanguard Board Director and Former Global Head of Deloitte Digital, to its Board of Directors12.6.2026 19:36:00 EEST | Press release
IQM Quantum Computers, the global leader in superconducting quantum computers, today announced the appointment of Barbara Venneman to its Board of Directors. Venneman deepens the Board's expertise in digital transformation, enterprise technology commercialization, and global business scaling as IQM expands its commercial footprint worldwide. Additionally, CEO and Co-founder Jan Goetz will replace Co-founder Juha Vartiainen as the Founder representative on the IQM Board. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260612650938/en/ IQM Appoints Barbara Venneman, Vanguard Board Director and Former Global Head of Deloitte Digital, to its Board of Directors Ms. Venneman joins the IQM Board of Directors following a distinguished career at the intersection of advanced technology, strategy, and business transformation. She most recently served as Global Head of Deloitte Digital and previously held senior global leadership roles,
In our pressroom you can read all our latest releases, find our press contacts, images, documents and other relevant information about us.
Visit our pressroom