FDA Taking Genomic Testing to the Next Level
- Based on President Obama’s Precision Medicine Initiative (PMI)
- New regulatory strategies for Next Generation Sequencing (NGS) based clinical test – analyzing and interpreting a unique genetic makeup and alterations that may impact health
- December 2014 : Preliminary Discussion paper
- November 12th ; Public Workshop – Analytical performance evaluation standards
- November 13th : Public Workshop – Current challenges in clinical validation of NGS tests
OpenFDA Makes Medical Device-Related Data Easier to Access and Use
- Releasing information on medical devices for easy access to researchers, scientists, and developers
- 6,000 device classification records
- 24,000 registrations of device companies and establishments
- >100,000 devices
- 30,000 PMAs and supplements
- 141,000 510(k)s and de novo requests
- 9,500 device recalls
- 4.2 million adverse event reports
- Safeguards: Protect personal identity and confidential commercial information
- Active in GitHub and StackExchange, encourage external parties to participate
SUMMARY : FDA initiatives to spur innovation, advance scientific research, engage public and foster collaboration
XURIDEN® (uridine triacetate, Wellstat Therapeutics Corporation, Gaithersburg, MD)
Rare disease treatment for hereditary orotic aciduria , a rare metabolic disorder, reported in approximately 20 patients worldwide. Patients cannot synthesize adequate amounts of uridine and consequently can suffer from hematologic abnormalities, failure to thrive, a range of developmental delays, and episodes of crystalluria leading to obstructive uropathy
Reg Pathway : Orphan designation, priority review, granted rare pediatric disease priority review voucher
Indication : treatment of hereditary orotic aciduria
Efficacy :
Open-label study in 4 patients (3 to 19 years), 6 weeks.
- Primary endpoint was stability of hematological paramters (eg neutrophil count, percent neutrophils, white blood cell count, mean corpuscular volume)
- Patients 1 and 3 met pre-specified criteria
- Patient 2 pre-specified criteria remained stable
- Patient 4 did not meet the pre-specified endpoint
- In 6-mo extension treatment, hematologic parameters for patients normalized or remained stable
- Growth improved or remained stable
Safety : No adverse reactions
SUMMARY Congratulations to Wellstat Therapeutics for pursuing and succeeding in drug development in an ultra rare potentially life-threatening, genetic disorder