A new analysis makes a case for the value of Kebilidi (eladocagene exuparvovec-tneq), the first gene therapy approved for aromatic L-amino acid decarboxylase (AADC) deficiency. While the one-time treatment has a high cost, it leads to significant improvements in a patient’s quality of life and survival compared to…
People in Pennsylvania living with a rare disease, such as aromatic L-amino acid decarboxylase (AADC) deficiency, face a long and often delayed diagnosis, as well as problems accessing specialized care and financial support, according to the results of a real-world survey. “The findings underscore the urgent need for increased…
The U.S. Food and Drug Administration (FDA) has introduced a process it says will ease and speed the regulatory approval of therapies for very rare diseases — such as aromatic l-amino acid decarboxylase (AADC) deficiency — that have a significant unmet medical need and a known genetic cause. This…
Researchers have developed a new sensor to detect dopamine, which may be a useful tool for diagnosing and treating neurological diseases such as aromatic L-amino acid decarboxylase (AADC) deficiency. The sensor was described in the study, “Electrochemical Dopamine Sensing Using Mn-Doped CeO2 Nanomaterial-Modified Carbon Paste Electrode…
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…
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