Through a series of interviews with doctors, caregivers, and members of the general public, scientists have calculated new health state utilities (HSUs) that can be used to make economic assessments about the impact of AADC deficiency on a patient’s quality of life. “The HSUs generated here reflect an accurate…
PacBio’s high-fidelity (HiFi) sequencing, a new technology for detecting disease-causing DNA mutations in rare diseases, such as AADC deficiency, detected 93% of 145 mutations in 100 samples of patients who had difficult-to-detect rare diseases, a study shows. While diagnosing these patients previously required multiple tests with traditional methods that…
The Canadian government has signed a bilateral agreement with Saskatchewan, a province in Western Canada, to improve access to treatments for rare diseases and support enhanced access to existing drugs, early diagnosis, and screening for rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency. The agreement includes an…
The N-Lorem Foundation has partnered with Gondolabio to discover and advance novel antisense oligonucleotide (ASO) treatment options — medications that can correct genetic abnormalities in people — for nano-rare patients, or those with extremely rare diseases. First, the California-based nonprofit will leverage its ASO discovery platform to identify…
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…
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