The National Organization for Rare Disorders (NORD) announced that its annual Rare Diseases & Orphan Products Breakthrough Summit centered on the theme “From Voices to Breakthroughs.” The event, held October 19-21 in Washington, D.C., highlighted how lived experiences fuel significant scientific and policy advancements. The event featured a…
The AADC Family Network will host its annual AADC Awareness Day event this Thursday, once again seeking to raise the profile of this ultra-rare genetic disease. The event, now in its sixth year, is held annually on Oct. 23 to raise awareness about aromatic L-amino acid decarboxylase (AADC)…
The N-Lorem Foundation is gearing up for its Nano-Rare Patient Colloquium 2025 — the third year of its annual event to share the latest developments related to antisense oligonucleotide (ASO) treatment for individuals with extremely rare diseases. The forum, which will take place Oct. 20-21 in Cambridge, Massachusetts,…
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…
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