News

At its second annual event this fall, the N-Lorem Foundation detailed the latest developments related to antisense oligonucleotide (ASO) treatment for people with extremely rare diseases — those affecting just one to 30 people worldwide. Patients and families also shared experiences from their diagnosis and treatment journeys. The…

Comprehensive testing and continual re-evaluation of available data are needed to diagnose adults with rare genetic diseases, a new study from researchers in South Korea highlights. “Our findings emphasize the importance of a strategic approach [to a rare disease diagnosis] in adults, especially those with known family history and symptoms…

Nearly three-quarters of Europeans surveyed would not accept a scenario where their loved ones with a rare disease had to wait several years to be diagnosed. This is according to recent results from the third European Rare Disease Observatory, a large survey of more than 11,000 people in…

A team of U.S. researchers developed an artificial intelligence or AI-based algorithm to help doctors decide which type of genetic testing is most appropriate for children suspected of having a rare pediatric disease. The scientists believe their algorithm, dubbed the Phen2Test, will help accelerate the diagnostic odyssey for children living…

Two years after treatment with the gene therapy Kebilidi (eladocagene exuparvovec-tneq), Sriansh Ojha, a toddler with AADC deficiency, is walking and talking. Sriansh received Kebilidi in 2022 as part of the Phase 2 clinical trial (NCT04903288) that formed the basis of the U.S. Food and Drug Administration…

The U.S. Food and Drug Administration (FDA) has approved PTC Therapeutics’ one-time gene therapy, now called Kebilidi (eladocagene exuparvovec-tneq) in the U.S., for children and adults with AADC deficiency across the full spectrum of disease severity. The decision makes Kebilidi, also approved under the brand name Upstaza…

Disparities diagnosing rare genetic diseases in minority racial communities likely are due to systemic barriers, and are not because genetic tests are less likely to provide usable results in nonwhite patients, a new study led by a genetics company suggests. The study, by Genedx and its collaborators, found that…

The European Rare Diseases Research Alliance (ERDERA) was launched officially last week with the vision to offer better diagnosis and treatment for the 30 million people living in Europe with a rare disease like aromatic L-amino acid decarboxylase (AADC) deficiency. Coordinated by the National Institute of Health and…

Low levels of the nerve signaling molecule dopamine, a feature of aromatic l-amino acid decarboxylase (AADC) deficiency, affect the growth at early stages of nerve fibers in a brain region important for movement, a mouse study reveals. Early nerve fiber growth in AADC-deficient mice lacked the precise guidance seen…

Florida State University (FSU) has received $5 million from the State of Florida to support its Institute for Pediatric Rare Diseases, which conducts research on rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, that affect children. The announcement was made by state representative Adam Anderson during…