The Medicines and Healthcare products Regulatory Agency (MHRA) is seeking public feedback on a proposal to revamp how rare disease treatments are developed in the U.K. The regulatory body wants input on a new plan that would streamline the clinical testing and approval processes to help get therapies to patients…
News
EveryLife Foundation for Rare Diseases’ 15th Scientific Workshop recently brought together leaders from the rare disease patient, scientific, government, and biopharmaceutical communities to discuss practical, patient-centered solutions for developing therapies for rare diseases amid evolving FDA pathways and programs. Titled, “Making What Matters Count: Advancing…
SK pharmteco is partnering with Axle Informatics and the National Institutes of Health (NIH) to advance gene therapy programs for rare diseases. The collaboration, which was funded in part by the NIH, focuses on developing viral vectors that use modified viruses to deliver genetic material…
Through a series of long-term experiments using rats, a team of U.S. scientists has tracked how an AAV2-based gene therapy vector similar to the one used in Kebilidi (eladocagene exuparvovec-tneq), an approved gene therapy for AADC deficiency, travels through the brain. Results showed that capsid signals from the…
The National Organization for Rare Disorders (NORD) is teaming up with artificial intelligence (AI) company Openevidence to combine artificial intelligence (AI) with expert review to create new educational resources on thousands of rare diseases. “People living with rare diseases and the families who support them deserve access to…
Natera has launched Zenith genomics, its next-generation genetic testing platform designed to improve the detection of rare diseases, such as aromatic l-amino acid decarboxylase deficiency. The platform uses whole-genome sequencing — a laboratory process that reads a person’s entire genome, or complete DNA sequence — and interpretation technology…
Genetics sequencing company Illumina is teaming up with the Center for Data-Driven Discovery in Biomedicine (D3b) on a new project that aims to leverage genomic data from thousands of children to better understand the biological underpinnings of childhood rare diseases and cancers. With this initiative, D3b — a…
First Atom Therapeutics — newly rebranded from Asha Therapeutics — will use a drug design approach powered by artificial intelligence (AI) to develop entirely new therapeutic candidates for rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency. The platform will also be used to create novel drugs…
Researchers at the Keck School of Medicine, University of Southern California, are receiving up to $6.8 million in funding to develop an artificial intelligence (AI)-based computational model to help advance gene and cell therapies for children with rare diseases, including conditions such as aromatic L-amino acid decarboxylase (AADC) deficiency. Funded…
One-time treatment with Kebilidi (eladocagene exuparvovec-tneq) helped children with aromatic L-amino acid decarboxylase (AADC) deficiency gain new motor abilities within about a year, according to data from an ongoing clinical trial. The findings come from a Phase 2 clinical trial (NCT04903288) testing Kebilidi in 13 children with…
Recent Posts
- Harnessing the power of books early in our daughter’s AADC deficiency journey
- New proposal seeks to fast-track rare disease treatments in UK
- The impossible became the new normal after we accepted AADC deficiency
- Rare disease workshop focuses on patient-centered drug development
- For families in the AADC deficiency community, there is no perfect path