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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
An extension study of a Phase 2 trial investigating Rett syndrome therapy candidate Anavex 2-73 has dosed its first patient. “We are delighted to provide continuation of Anavex 2-73 treatment for Rett syndrome patients,” Christopher U Missling, PhD, Anavex’s president and CEO, said in a press release. The…
Subtle but apparent signs of disease may precede the onset of overt symptoms in children with Rett syndrome (RTT), which could serve as early diagnostic markers or help deliver interventions ahead of symptoms that may increase these children’s chances of recovery. Accumulating evidence suggests that early…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
Dietary supplementation with the amino acid L-serine improved motor and communication skills in a young girl with atypical Rett syndrome caused by a genetic mutation in the GRIN2B gene, a case report shows. The patient’s positive outcomes suggest that this dietary therapeutic approach may be helpful for those with…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
The first patient has been dosed in Anavex Life Sciences’ AVATAR Phase 2 trial, taking place in Australia, and evaluating the safety and efficacy of Anavex 2–73 for the treatment of Rett syndrome. Anavex 2–73, developed by Anavex Life Sciences, is a small molecule that activates a protein…
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
A recombinant version of MeCP2 — the faulty protein in Rett syndrome — has the potential to enter the brain, encouraging its development as a protein replacement therapy for the disease, researchers say. The scientists have also developed an assay that can accurately and sensitively detect MeCP2, which…
Two scientists will receive a total of $850,000 to advance treatment and diagnostic projects in Rett syndrome and MECP2 Duplication syndrome. Rettsyndrome.org, a leading private funder of Rett syndrome research, will award Jeannie T. Lee, MD, PhD, of Massachusetts General Hospital in Boston a $600,000, two-year…
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