Patient centric research is our passion In today's healthcare landscape, the patient voice has become an essential component of real-world research. Platforms like the CDKL5 Registry exemplify this shift, capturing... read more →
Poster presentation at 20th World Symposium: A paradigm shift in collecting RWD for GM2 gangliosidosis. Collecting real-world data (RWD) for rare diseases, particularly GM2 gangliosidosis, has historically posed challenges. However,... read more →
Every parent loves to watch their child fly like a butterfly and discover the world. Although five-year-old Ollie’s variation of CACNA1C means he is developmentally one year old, he plays... read more →
by Dr. Femida Gwadry-Sridhar Have you ever considered the connection between drug development for rare diseases and olive trees in Italy? I assure you, there is one. In September, I... read more →
Shattering Rare Disease Registry Recruitment Targets with PIP-UK Real-world data from registries and other real-world evidence sources remain a fertile ground of opportunity for advocacy groups and biopharma companies to... read more →
A Collaborative Partnership to Develop the CDKL5 Registry CDKL5 Deficiency Disorder (CDD) is a rare developmental encephalopathy with epilepsy that is caused by mutations in the CDKL5 gene. CDD can... read more →
Timothy Syndrome Alliance and Pulse Infoframe are pleased to announce that the CACNA1C Community Registry is open for worldwide recruitment. The registry will aid in research for Timothy Syndrome, non-syndromic... read more →
You would think that, after 22 years in the U.S. Navy, a veteran deserves a break. But like a baseball game, life doesn’t go as planned for many, and it... read more →
The Myrovlytis Trust, BHD Foundation, and Pulse Infoframe are pleased to announce that the BHD International Registry is open for recruitment. What Is Birt-Hogg-Dubé Syndrome? Birt-Hogg-Dubé (BHD) syndrome is a... read more →
By Dr. Femida Gwadry-Sridhar It is astounding when you think about rare diseases and then you hear about rare epilepsies. Sadly, they are really not that rare in the larger... read more →
