Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…
Soleno Therapeutics has partnered with Vanderbilt University to develop therapies that work as ATP-dependent potassium channel activators for rare diseases, similar to the diazoxide choline controlled release (DCCR) tablets the company thinks might treat Prader-Willi syndrome (PWS). ATP-dependent potassium (or KATP) channels are proteins present in multiple body tissues.
A small study exploring gene alterations related to Prader-Willi syndrome (PWS) suggests that subtypes of the disorder have different genetic profiles that may affect response to psychotropic treatments and potential side effects. Due to its small size, only trends rather than statistically significant differences were…
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
Growth hormone therapy should be universally available, given to adults as well as children with Prader–Willi syndrome (PWS) and based solely on a genetic PWS diagnosis. This is the position of the Clinical and Scientific Advisory Board of the…
Tonix Pharmaceuticals has licensed technology from the French National Institute of Health and Medical Research (Inserm) that it aims to use for treating failure to thrive in Prader-Willi syndrome. The license will allow Tonix to expand its intranasal — administered via the nose — potentiated oxytocin program to…
Tryp Therapeutics announced plans to launch a Phase 2a clinical trial evaluating the potential of its investigational oral candidate TRP-8802 (synthetic psilocybin) at reducing excessive appetite in people with Prader-Willi syndrome (PWS) and other rare disorders characterized by overeating and with high unmet therapeutic needs. The upcoming trial is…
Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
The COVID-19 pandemic — which took a heavy toll on people with Prader-Willi syndrome (PWS) and their families, according to a recent webinar — likely influenced the results of the DESTINY PWS Phase 3 trial that was testing the investigational therapy diazoxide choline controlled release (DCCR) at its…
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