News

Half of aromatic l-amino acid decarboxylase (AADC) deficiency patients given the one-time gene therapy Kebilidi (eladocagene exuparvovec) exhibited clinically meaningful improvements in motor function after six months, and 86% had achieved such gains after 1.5 years, according to analyses of clinical trial data. Scientists identified a threshold at…

An international program that screened more than 160 children thought to have movement disorders like cerebral palsy led to one child being diagnosed with AADC deficiency, a study reports. The study, “REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie…

Prolonged general anesthesia appears to be safe for children with AADC deficiency undergoing surgery for gene therapy, according to the first case series of its kind. Still, precautions must be taken throughout procedures due to complications associated with general anesthesia in this patient population, including abnormal changes in blood…

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…