Nippon Shinyaku, Boston Children’s to partner on rare disease research
Child treated with AADC deficiency gene therapy Kebilidi is 'thriving'
Nippon Shinyaku (NS) Pharma will partner with Boston Children’s Hospital to study and develop treatments for rare diseases, like aromatic l-amino acid decarboxylase (AADC) deficiency.
“Through our strategic alliance with Boston Children’s Hospital, the NS Group will continue to apply advanced medical technology in the field of rare diseases,” Nippon Shinyaku President Yukiteru Sugiyama said in a company press release. The Japanese company specializes in rare disease drug development and marketing, and markets Viltepso (viltolarsen), a treatment for Duchenne muscular dystrophy.
Under the agreement, Boston Children’s will provide proposals for rare disease research to Nippon Shinyaku and the company will partner with the hospital on selected proposals of interest to both. Along with discovering and testing new rare disease therapies, proposals may include other research questions. For example, Nippon Shinyaku and Boston Children’s might partner on studies that investigate the development and mechanism of these diseases.
AADC deficiency is an ultra-rare genetic disorder. A 2023 study reporting about 350 cases diagnosed worldwide. The condition disrupts the production of key chemical messengers, impairing communication between nerve cells, and causing symptoms such as developmental delays and problems with movement. Diagnosing AADC deficiency typically includes at least three tests, including a genetic analysis. While current treatments can alleviate some symptoms, identifying effective and accessible therapies remains a crucial area of research.
Boston Children’s work in AADC deficiency
Several recent efforts have focused on gene therapy to address the disease’s root causes. In 2024, the U.S. Food and Drug Administration approved the first gene therapy for AADC, Kebilidi (eladocagene exuparvovec-tneq).
Boston Children’s is involved in an ongoing trial of Kebilidi in partnership with developer PTC Therapeutics. The Phase 2 study (NCT04903288) includes 13 children and focuses on the method of delivering the medication.
To inject Kebilidi into the putamen, a small brain area, researchers developed a specialized cannula that’s compatible with MRI. This lets surgeons use real-time guidance from MRI scans to accurately target the putamen. Results so far have demonstrated early promise, with one toddler developing normal walking and talking after treatment at Cincinnati Children’s Hospital. Another child, treated at Boston Children’s, has also been “thriving” since treatment, according to a hospital press release.
As part of the new partnership, Nippon Shinyaku may collaborate on clinical and preclinical studies of rare diseases like AADC deficiency. “We are excited about the extensive opportunities for innovation derived from this collaboration and the ability to deliver new therapies to patients suffering from these conditions as soon as possible,” Sugiyama said.
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