Category RARE DISEASES

PIER MARIA FORNASARI
2023-11-10

FDA Approves First Treatment for Patients with Rare Congenital Thrombotic Thrombocytopenic Purpura

The U.S. Food and Drug Administration approved Adzynma, the first recombinant (genetically engineered) protein product indicated for prophylactic (preventive) or on demand enzyme replacement therapy (ERT) in adult and pediatric patients with congenital thrombotic thrombocytopenic purpura (cTTP), a rare and life-threatening blood clotting disorder. “The FDA remains deeply committed in our efforts to help facilitate

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PIER MARIA FORNASARI
2023-02-13

NIH scientists discover a rare neurological disease involving cellular recycling

New disease could provide insights into how the cell’s recycling system contributes to a healthy brain. Researchers at the National Institutes of Health have discovered a new neurological condition characterized by issues with motor coordination and speech. They report their findings in npj Genomic Medicine. Scientists from NIH’s National Human Genome Research Institute (NHGRI) and Undiagnosed

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PIER MARIA FORNASARI
2023-01-30

Once-weekly efanesoctocog alfa beneficial in severe hemophilia A

Once weekly efanesoctocog alfa provides superior bleeding prevention to prestudy prophylaxis for patients with severe hemophilia A, according to a study published in the Jan. 26 issue of the New England Journal of Medicine. Annette von Drygalski, M.D., Pharm.D., from the University of California in San Diego, and colleagues conducted a phase 3 study involving patients

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PIER MARIA FORNASARI
2023-01-25

NIH researchers are shedding light on a mystery medical condition called VEXAS syndrome believed to affect more than 15,000 people in the United States.

Identified in 2020, VEXAS syndrome is a rare, genetically linked disorder with a high death rate. VEXAS syndrome is a disease that causes inflammatory and hematologic (blood) manifestations. The syndrome is caused by mutations in the UBA1 gene of blood cells and acquired later in life. Patients do not pass the disease to their children. The syndrome

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PIER MARIA FORNASARI
2023-01-03

NIH clinical trial leads to atezolizumab approval for advanced alveolar soft part sarcoma

A clinical trial led by the National Cancer Institute (NCI), part of the National Institutes of Health, has resulted in the first approval of a treatment for advanced alveolar soft part sarcoma (ASPS). The immunotherapy drug atezolizumab (Tecentriq) was recently approved by the U.S. Food and Drug Administration (FDA)(link is external) for the treatment of adults and

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PIER MARIA FORNASARI
2022-11-14

Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2

Therapy up to 4.5 years led to gains in motor function: analysis published in Brain & Development Up to 4.5 years of Spinraza (nusinersen) treatment led to meaningful improvements in motor function in adolescents and adults with spinal muscular atrophy (SMA), according to a medical records analysis. “[Spinraza] was effective in long-term follow-up,” researchers wrote. Noting a dearth of

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PIER MARIA FORNASARI
2022-08-09

Acute hepatitis of unknown origin in children: an update by the European Reference Network ERN RARE-LIVER

Unexplained cases of acute liver inflammation in children, especially in the United Kingdom (UK) were reported earlier this year. In response, the European Reference Network on Hepatological Diseases (ERN RARE-LIVER) conducted a thorough investigation that did not confirm the alarming observation from the UK in other European countries. However, an infectious cause remains the main suspected

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PIER MARIA FORNASARI
2022-05-14

FDA’s Center for Drug Evaluation and Research (CDER) Launches New Accelerating Rare disease Cures (ARC) Program

FDA’s Center for Drug Evaluation and Research (CDER) has announced the launch of the new Accelerating Rare disease Cures (ARC) Program. The goal of the CDER ARC Program is to speed and increase the development of effective and safe treatment options addressing the unmet needs of patients with rare diseases. Launched in May 2022, CDER’s Accelerating Rare disease

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PIER MARIA FORNASARI
2022-03-23

Kids with rare autoimmune disease antiphospholipid syndrome show these symptoms before blood clots 

Antiphospholipid syndrome is rare in adults and even less common among children.  Each year, around two of every 100,000 American adults receive a new diagnosis of antiphospholipid syndrome, or APS, an autoimmune disease known to cause inflammation and recurring, potentially fatal, blood clots. The number of children with APS is likely much smaller but unknown –

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