The EQT Foundation, a branch of the investment organization EQT, will fund breakthrough research grants investigating rare diseases such as aromatic L-amino acid decarboxylase (AADC) deficiency. “Rare diseases often go unseen and unheard, leaving millions, many of them children, without effective treatments or timely diagnoses,” Cilia Holmes…
A new study reports that aromatic L-amino acid decarboxylase (AADC) deficiency was the most common neurotransmitter disorder seen at a clinic in India over the last decade. The study, “Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India,” was published…
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…
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 …
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…
People affected by rare diseases like aromatic L-amino acid decarboxylase (AADC) deficiency require more than just medical support: These patients and their caregivers need a holistic approach that also addresses several unmet needs, such as providing social and financial assistance. That’s according to a new study, “…
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…
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…
The Pennsylvania Senate has approved legislation to extend support for patients with rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency, by continuing the work of the Pennsylvania Rare Disease Advisory Council (PARDAC). PARDAC was established in 2017 to help Pennsylvania residents navigate life with a rare…
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