A recent study highlights the experiences and information needs of families with children suffering from organic acid and fatty acid metabolism disorders in Japan. This research underscores the importance of addressing the unique challenges faced by these families.

Rare disease specialist Ultragenyx reports its gene therapy for a rare glycogen storage disease GSDIa has been approved by the FDA. Rare disease specialist Ultragenyx’s gene therapy Genglycos has received accelerated approval from the FDA for treatment of glycogen storage disease type Ia (GSDIa), a rare metabolic condition. This marks the fifth FDA approval for the California-based biotech, which has already developed two monoclonal antibodies, an enzyme replacement therapy, and an oral synthetic triglyceride for long-chain fatty-acid oxidation disorders, all of which are for treating rare diseases. “The approval of Genglycos represents a major step forward for the GSDIa community and reflects almost 30 years of work and scientific progress aimed at improving safety and the quality of life of people living with this disease.” · No mention of treatment price was made in the company’s announcement, but it does say the company will help enable access for eligible patients by providing “support to help enrolled patients and caregivers navigate access to treatment through its UltraCare program.” · News & FeaturesAdeno associated viral vectorAdverse drug reactionsDiet therapyGene therapy (Therapeutics)GenesMetabolic disordersRare diseasesUltragenyxGenglycos GSDIa is ultra-rare in the United States and occurs in approximately 1 in 125,000 births. Estimates of the number of people currently living with the condition range from around 1,500 to 2,500, but the precise figure is uncertain because the total number of people with GSDIa is unknown. Genglycos is a one-time intravenous adeno associated viral vector (AAV) gene therapy for treatment of GSDIa in both children aged 8 years and above and adults. The therapy is designed to deliver a functional G6PC gene to liver cells. There were seven serious adverse reactions in the study, two anaphylaxis or infusion reactions, two adrenal-gland events, two cases of elevated lactate, and one hypoglycemia event. Like many AAV therapies Genglycos comes with a risk of elevated liver enzymes and some of the adverse events were linked to complications associated with the corticosteroids used to manage post-infusion liver inflammation.