Expressive Language Sampling May Lead to Treatment Options for Fragile X Syndrome
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Expressive Language Sampling May Lead to Treatment Options for Fragile X Syndrome

By Danielle Bradshaw from In The Cloud Copy Expressive language sampling, or ELS, could potentially help researchers better measure how well treatments work for patients with fragile X syndrome or…

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Investigational Treatment for Rett Syndrome gets Rare Pediatric Disease Designation
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Investigational Treatment for Rett Syndrome gets Rare Pediatric Disease Designation

According to a story from Wapakoneta Daily News, the drug companies ACADIA Pharmaceuticals Inc. and Neuren Pharmaceuticals Limited have recently announced that its investigational product candidate trofinetide has earned Rare…

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With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two…

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Patient Screening Completed for Clinical Trial of Zygel, a Treatment for Fragile X Syndrome
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Patient Screening Completed for Clinical Trial of Zygel, a Treatment for Fragile X Syndrome

Zynerba Pharmaceuticals has recently announced that they have finished the patient screening for their clinical trial of Zygel, a treatment for Fragile X syndrome. Zygel is a CBD gel that…

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Using PacBio SMRT Sequencing in Myotonic Dystrophy Type 1 and Other Rare Disorders

  Stéphanie Tomé is an investigator at the Sorbonne Université in Paris, France. A recent article in PacBio describes Tomé’s research into a disease that becomes progressively worse with each generation.…

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The First Clinical Evidence that the Drug Mavoglurant Improves Responsiveness in Fragile X Syndrome (FXS)

Results of a study reported in PLOS ONE that was conducted by a team of scientists indicate that the experimental drug mavoglurant improves responsiveness and eye gaze for patients with…

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Company Releases Data From Open Label Trial of Experimental Fragile X Syndrome Treatment
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Company Releases Data From Open Label Trial of Experimental Fragile X Syndrome Treatment

According to a story from globenewswire.com, the drug company Zynerba Pharmaceuticals, Inc. has announced that the data from its phase 2 open label trial has been officially published. This clinical…

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DNA Sequencing Took Years, Now it Takes Hours; As a Result, Researchers Have Discovered The Cause of Four Rare Diseases

Researchers at the University of Tokyo have discovered that one segment of DNA is responsible for four rare diseases. As reported in Science Daily, the university team also believes that…

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New Technology for Diagnosing Rare Conditions by Photograph May Foster Employment Discrimination?

As discussed in a recent article on PatientWorthy the FDNA has recently developed a new kind of algorithm which can diagnose rare genetic conditions such as Angelman syndrome, Williams syndrome, and Fragile X syndrome using…

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