News

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights? These are the colors most often used to represent Rare Disease Day. This year,…

The final patient has finished the first, six-month portion of the pivotal VISION-DMD Phase 2b clinical trial, assessing the anti-inflammatory steroid therapy vamorolone in boys with Duchenne muscular dystrophy (DMD). Top-line data from this part of…

The first patient has been dosed in a Phase 2 trial testing BBP-418, a potential first oral disease-modifying therapy for limb-girdle muscular dystrophy type 2i (LGMD2i). BBP-418 is a small molecule that delivers a prodrug — a precursor molecule — which, once inside the body, will change into the sugar…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

With the recent approval of Amondys 45 (casimersen) by Sarepta Therapeutics, there are now four exon-skipping therapies available in the U.S. for eligible patients with Duchenne muscular dystrophy (DMD). The others are Exondys 51 (eteplirsen) and Vyondys 53 (golodirsen), also by Sarepta, and Nippon Shinyaku’s…

The U.S. Food and Drug Administration (FDA) has conditionally approved Amondys 45 — formerly known as casimersen — by Sarepta Therapeutics as the first treatment for people with Duchenne muscular dystrophy (DMD) amenable to exon 45 skipping. Accelerated, or conditional, approval is granted to a medication whose immediate availability fulfills an unmet medical…

Treatment with givinostat alongside corticosteroids continues to delay disease progression — and maintain patients’ ability to walk — in boys with Duchenne muscular dystrophy (DMD), new data from a long-term Phase 2/3 clinical study show. The new data, from an ongoing seven-year study, was presented by Paolo Bettica,…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

The Muscular Dystrophy Association (MDA) has launched its 39th annual #MDAShamrocks campaign — the largest St. Patrick’s fundraiser in the U.S. — aiming to raise money and awareness about muscular dystrophy and related neuromuscular disorders. During February and March, thousands of retailers across the country will invite their…