AUSTIN, Texas — AlphaRose Therapeutics, through its drug discovery arm, RareLabs, and researchers from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH), announced today the publication of a landmark study in the Journal of Personalized Medicine. The paper, titled “Personalized Drug Repurposing Screen Identifies Patient-Specific Therapeutic Candidates for Mucopolysaccharidosis Type IIIB,” validates a new, scalable “N-of-1” drug repurposing platform that identifies treatment candidates uniquely tailored to a patient’s specific genetic profile.
Sanfilippo Syndrome Type B (MPS IIIB) is a fatal, progressive lysosomal storage disease with no currently approved therapies. Historically, the extreme genetic heterogeneity of the condition—with over 300 unique mutations identified in the NAGLU gene—has stalled the development of “one-size-fits-all” treatments.
This collaborative research shifts the paradigm toward individualized precision medicine. Using the NCATS Pharmaceutical Collection (a library of 2,807 approved compounds), the team developed a high-content imaging platform using patient-derived skin cells to identify treatments for an index patient.
Key Findings:
- Identification of Candidates: The screen identified four orally available, clinically approved drugs—baclofen, dextrose, epalrestat, and moxifloxacin—that dramatically corrected lysosomal defects in the index patient’s cells.
- Profound Patient-Specificity: Critically, when tested on cells from a second patient with a different NAGLU mutation, none of these drugs showed efficacy.
- Significance: This striking divergence proves that therapeutic responses in MPS IIIB are highly genotype-dependent, demonstrating that patients with different mutations require distinct, individualized therapies.
“Our goal is to prove that precision treatments are not just a concept, but a viable, repeatable path for underserved patient communities. I am grateful for the NIH NCATS team, and this is just the beginning of what will come from our collaboration. Every life matters!” said Rodney A. Bowling, Jr., Study Co-Author and CSO, AlphaRose RareLabs.
See the full paper here: https://www.mdpi.com/2075-
The catalyst for this research was the advocacy of Alina Gorniak, who partnered with AlphaRose to seek answers for her son, Simon. To donate to her quest for a cure, you can go to: https://www.supportnow.org/
In the spirit of open science, the full screening dataset is now publicly accessible via the NIH PubChem database (Bioassay ID: 2202682).
About AlphaRose Therapeutics & RareLabs
AlphaRose Therapeutics is a public benefit biotechnology company focused on building a scalable precision medicine platform for ultra-rare diseases. Its discovery division, RareLabs, partners with academic, clinical, and federal research laboratories to construct patient-specific cellular models and therapeutic development. For more information, visit www.alpharose.com, and www.hopeatrarelabs.com
Contact
RareLabs Communications, AlphaRose Therapeutics
[email protected]