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Ultra Rare Diseases

All articles tagged with #ultra rare diseases

health-policy2 days ago•3 min saved

FDA Unveils Plausible Mechanism Framework to Accelerate Tailored Therapies for Ultra-Rare Diseases

The FDA issued a draft guidance outlining a Plausible Mechanism Framework to accelerate approvals of genome-editing and RNA-based, individualized therapies that target the root causes of ultra-rare diseases, allowing smaller, robust studies and the use of master protocols. Sponsors must demonstrate the therapy addresses the specific disease mechanism, rely on well-characterized natural history data, and show target engagement or editing; public comments are due within 60 days.

via fda.gov|

#fda #genome-editing #health-policy

health7 months ago•6 min saved

FDA regulations threaten treatment access for ultra-rare disease patients

Patients with ultra-rare diseases like Hope Filchak's MLS syndrome face challenges in accessing treatments due to strict FDA approval processes, exemplified by the rejection of the drug elamipretide despite positive advisory committee recommendations, raising concerns about the balance between safety and urgent patient needs.

via The Guardian|

#drug-approval #elamipretide #fda

health2 years ago•9 min saved

Personalized Medicine: Revolutionizing Healthcare for All

Bespoke therapies, such as antisense oligonucleotide (ASO) treatments, are offering hope for patients with ultra-rare diseases who have no other options. These personalized treatments, designed for a single patient or a small population, are made possible by advances in medicine like gene therapy and mRNA technology. While challenges remain in terms of finding the right match between disease and treatment, delivering the treatment effectively, and ensuring safety, these therapies have the potential to transform the lives of patients with rare diseases. Nonprofits like n-Lorem are working to develop drugs for people with ultra-rare genetic diseases, and organizations like the N=1 Collaborative are focused on standardizing data collection and sharing to improve outcomes. Although there are financial challenges, the potential to save lives and provide a future for patients with rare diseases is driving progress in this field.

via USA TODAY|

#aso #bespoke-therapies #gene-therapy