News

Tube feeding linked to poorer oral health in children: Study

Children with rare diseases who have a gastrostomy tube, a feeding tube inserted through the belly and into the stomach, tend to have more inflamed gums, tartar buildup, and vomiting than those without those tubes, a study found. However, younger children with a gastrostomy tube had significantly fewer cavities than…

Texas hospital uses Kebilidi gene therapy to treat 3-year-old girl

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…

New cell model hailed as platform for studying AADC deficiency

A newly developed cell model has been called “a significant step toward understanding the molecular mechanisms of AADC deficiency” and one that offers a platform for preclinical testing of new therapeutic candidates. “This model may pave the way for the development of precision therapies,” three researchers in Turkey and…

Girl with AADC deficiency thriving after Kebilidi treatment

Doctors at Boston Children’s Hospital say the gene therapy Kebilidi (eladocagene exuparvovec-tneq) can be life-changing for people with aromatic L-amino acid decarboxylase (AADC) deficiency, as was the case for a girl treated there. When the girl went in for gene therapy treatment as a baby in 2023, she…

Statement backing EU patient representation gains more support

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…