A non-invasive prenatal test to diagnose a risk of sickle cell disease in a baby is possible and may be available in clinics in a near future, if further testing confirms its efficacy, researchers in the U.K. report. Julia van Campen presented the first results of the non-invasive test in…
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The Sickle Cell Disease Association of Illinois (SCDAI) announced plans to hold its 45th Annual 8K Walk/Jog/Bike-A-Thon on July 20, continuing the group’s longstanding efforts to raise funds and disease awareness. Rain or shine, the event will take place starting at 8 a.m. along the shores of Lake…
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…
Chronic pain in adults with sickle cell disease (SCD), a frequent symptom of the disease, is associated with alterations in the connection of brain regions involved with pain perception, a study indicates. When SCD patients with chronic pain were compared to those without it, multiple differences were found…
Treatment with hydroxyurea since early infancy, starting at the age of one, is effective and safe at preventing sickle cell disease (SCD) complications, a follow-up study has found. The study “Prospective longitudinal follow-up of children with sickle cell disease treated with hydroxyurea since infancy” was published in journal…
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…
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Investigational Oral Inhibitor IMR-687 Shows Promising Results in Ongoing Phase 2 Clinical Trial
Imara’s investigational oral inhibitor IMR-687 is well-tolerated, and shows signs of potential for lowering blood biomarkers of sickle cell anemia (SCA), early data from a Phase 2 trial show. The results were presented at the 24th Congress of the European Hematology Association (EHA), held recently in…
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,…
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HOPE Trial Shows Voxelotor May Increase Hemoglobin, Reduce Anemia in Adults and Adolescents With SCD
Treatment with voxelotor, Global Blood Therapeutics’ lead therapy candidate, can markedly reduce both hemolysis — the destruction of red blood cells — and anemia in adolescents and adults with sickle cell disease (SCD), results from the Phase 3 HOPE trial show. Voxelotor also was found to significantly increase the…
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…
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