Marisa Wexler, MS,  senior science writer—

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…

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…

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…

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…

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…

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…

Running clinical trials for any rare disease is difficult, but steps like using innovative trial designs and taking advantage of real-world data can help facilitate these important studies across all rare conditions. That’s according to a new paper titled “Rare disease clinical trials in the European Union: navigating regulatory…

Since its launch 12 years ago, a program to incentivize drug development for rare diseases that affect children has led to the approval of dozens of new treatments, but without congressional action, the program is set to expire by the end of September. The National Organization for Rare Disorders (NORD)…