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More than half of all therapies approved by the U.S. Food and Drug Administration (FDA) in 2024 were designed to treat rare diseases, according to an advisory firm that helps life sciences companies navigate the commercialization process. One such approval was for Kebilidi (eladocagene exuparvovec-tneq), a gene therapy developed…

Note: This story was updated March 21, 2025, to correct that Pamela Price was a competing athlete in “American Ninja Warrior.” More than 100 events across the U.S. marked Rare Disease Day, an annual initiative at the end of February to raise awareness for rare diseases like aromatic…

Parents of children living with rare diseases reported a range of unmet needs across multiple areas in a recent survey conducted in Ireland, though the degree of burden felt by families varied. Challenges included difficulties in understanding the disease and working with healthcare professionals, dealing with emotions like anger and…

A 14-year-old boy with aromatic l-amino acid decarboxylase (AADC) deficiency had successful extensive dental surgery under general anesthesia, a study reports. Precautions were taken throughout the procedure to avoid complications that occur with anesthesia in this patient population, including abnormal changes in blood pressure, body temperature, and blood…

Researchers in the U.K. have developed a new method to help identify people with undiagnosed AADC deficiency based on data from healthcare records. The method was described in a study, “Interrogation of coded healthcare data to facilitate identification of patients with a rare neurotransmitter disorder; Aromatic…

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…