The NFXF Blog
Our Road to Independence
“How in the world will we raise our developmentally disabled kids that get so overwhelmed by almost everything? Will they have to live with us forever? Will life ever calm down? Will they ever be [...]
Alcobra Ltd Announces a New Clinical Trial Enrolling Subjects with Fragile X Syndrome in 2014
Alcobra Ltd will be conducting a clinical trial of Metadoxine Extended Release (MDX) in adults and adolescents, 15 to 55 years old, with Fragile X syndrome. The planned Phase IIb MDX clinical trial will be a multi-center, randomized, placebo-controlled study, conducted primarily in the US. The study is supported by positive data collected from multiple earlier animal studies using metadoxine. Results from these studies demonstrated significant improvement in behavioral and cognitive outcomes in mice based on testing and performance of memory, learning, and social interaction.
Huber: A Response to "Marijuana-like Brain Chemicals" Possible Treatment for FXS
The Fox news piece highlighted an original research article, by Drs. Daniele Piomelli and Olivier Manzoni and colleagues, that found boosting the production of a natural marijuana-like chemical in the brain, 2-AG, called an endocannabinoid, could restore normal brain function and behavior in the mouse model of Fragile X. Although this finding is very exciting, don’t make the marijuana brownies just yet!
The 2014 NFXF Let ‘Em Know 5k: It’s Back!
Last year, we held our first ever “Let ‘Em Know 5k”, a virtual event that brought together people from all over the country! This July, we want it to be even bigger and better. So [...]
How My Son Finally Opened Up About His Little Brother With Special Needs
Leah Sugarman, a Fragile X mom and an active member of the Eastern Massachusetts Fragile X CSN group, shares her story about the first time her son opened up about his little brother with special needs…
More Than a Case of Fragile X
Colleen McGavin, a student at the University of Michigan Medical School, explains to the medical community that her brother with Fragile X is not just "a case of Fragile X" but a "beautiful, complex, vulnerable, [...]
NFXF Founder Receives Distinguished Scholarly Public Service Award
"I can think of no one more deserving of this honor. Although a physician and scientist, Randi is a public servant in the true sense of the title. Her passion to bring positive change to the lives of individuals and families impacted by Fragile X and autism sets the bar. We at the National Fragile X Foundation are proud to carry on the work that Randi started 30 years ago when she established the NFXF. The families we serve sleep better at night knowing that Randi is on the job. We offer our most heartfelt congratulations and thanks to Randi on the occasion of this well deserved award." said Jeffrey Cohen, NFXF interim executive director.
14th International Fragile X Conference Q&A
Featuring: Holly Usrey-Roos & Nicole Schweizer Recorded: March, 25, 2014
The Fragile X Clinic: What Does It Mean For You?
At our clinic in Boston we often hear families ask why they should go to a Fragile X clinic if they are happy with the care they are currently receiving from their local providers. The main reason is that our clinics specialize in all things Fragile X—we get you and your child. Everyone here—clinicians, genetic counselors, social workers, therapists, and all other members of the clinic—knows Fragile X syndrome (FXS).
Novartis Announces Results of Mavoglurant (mGluR5) (AFQ056) Clinical Trials and the Conclusion of the Long-Term Extension Study
Earlier this month Novartis released results of the Phase IIb/III studies with mavoglurant (AFQ056) in adolescents with Fragile X syndrome (FXS). The trial results from the study of adults were released late last year. Both studies did not meet [...]
Progressive Neurodegenerative Disorder (FXTAS) Linked to R-loop Formation, UC Davis Researchers Find
Researchers at UC Davis have identified a new feature of the genetic mutation responsible for the progressive neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS) — the formation of “R-loops,” which they believe may be associated with the disorder’s neurological symptoms, such as tremors, lack of balance, features of Parkinsonism and cognitive decline.
Knott's Berry Farms and Disneyland Discounts
Outside of your Conference itinerary, if you are interested in visiting Disneyland Resort Theme Park and/or Knott's Berry Farm while attending the 14th International Fragile X Conference, this is the place to get discount tickets! [...]