A 3-year-old girl with aromatic l-amino acid decarboxylase (AADC) deficiency successfully received the gene therapy Kebilidi (eladocagene exuparvovec-tneq) without complications at Texas Children’s Hospital. “Before now, AADC deficiency was a hopeless diagnosis,” Daniel J. Curry, MD, the neurosurgeon who performed the surgery and the director of the neuro-infusion…
A $27 million grant will enable Cincinnati Children’s to continue to serve as the hub of a network of rare disease research centers for five more years. The grant, from the National Center for Advancing Translational Sciences, allows the hospital to continue as data management and coordinating center for the …
Note: This story was updated July 22, 2025, to correct Nippon Shinyaku (NS) Pharma and Boston Children’s Hospital’s connection to AADC deficiency. Nippon Shinyaku (NS) Pharma will partner with Boston Children’s Hospital to study and develop treatments for rare diseases. “Through our strategic…
More than 70 additional patient organizations have joined a joint statement from the European Organization for Rare Diseases (EURORDIS) and the European Patients’ Forum (EPF) urging European policymakers to safeguard patient representation in regulatory decisions affecting medicines. “Patient representatives are not passive participants, but expert, committed members of…
Researchers in Germany are creating an artificial intelligence (AI) tool to help physicians diagnose rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, and connect their patients to specialists. “At the end of the project, physicians will be able to upload a patient’s symptoms and medical results onto…
OneMedNet, a provider of real-world healthcare imaging data, will expand its capabilities to enable secure collaboration for researchers investigating rare diseases and other complex medical questions. By providing de-identified, curated datasets, OneMedNet hopes to fuel innovation around rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. The company’s…
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