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Connecta Therapeutics‘ CTH120 molecule has been granted orphan designation by the European Medicines Agency (EMA) for treating fragile X syndrome, the leading cause of hereditary intellectual disability and autism spectrum disorders. The company said it intends to begin human clinical trials as early as next year to test …

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

The McQuade Center for Strategic Research and Development (MSRD) will collaborate with Sentinel Oncology for the clinical development of a potential breakthrough treatment for fragile X syndrome (FXS). Under agreement terms, the MSRD, which funds innovative early stage research and development programs, will work with the…

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…

Note: This story was updated Aug. 12, 2022, to reflect that blarcamesine is an experimental activator.  Treatment with Anavex2-73 (blarcamesine) safely and significantly eased behavioral symptoms of fragile X syndrome (FXS), and normalized some aspects of brain chemistry, in a preclinical study in mice. Anavex Life Sciences, the…

A Rush University Medical Center scientist will use a $4 million “cooperative agreement” from the Centers for Disease Control and Prevention (CDC) to better define the natural history of fragile X syndrome (FXS) and determine ways to improve the lives of patients and their families. The five-year study,…

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…

Nova Mentis is seeking orphan drug designation from the European Medicines Agency (EMA) for psilocybin, its investigational therapy for fragile X syndrome. Psilocybin, found naturally in certain mushrooms — popularly called “magic mushrooms” — is most known for its hallucinogenic, anxiolytic, and psychoactive effects. However, Nova officials…