Patient interviews within a phase 1/2 open-label trial show that DTX401 gene therapy reduces treatment burden and improves quality of life in adults with glycogen storage disease type Ia (GSDIa). jheor.org/article/155666 #HEOR #GSDIa #genetherapy

Dr Herodes Guzman talks through a striking GSDIa case series where lactic acidosis persisted despite hypoglycaemia correction—prompting fresh thinking about mitochondrial involvement in metabolic crisis.

Listen now: open.spotify.com/episode/2gRr...
#GSDIa #IMD #RareDisease #MetabolicMedicine

In GSDIa, lactic acidosis can persist even after glucose correction, potentially reflecting mitochondrial dysfunction and driving multiorgan failure.

Important signals for future mitochondrial surveillance and adjunct therapies in crisis care.

doi.org/10.1002/jmd2...

#GSDIa #Mitochondria

Two pregnancies in GSD Ia, both with preeclampsia & SGA infants.

Abnormal placentas, but no GSD-specific histology.
Big questions remain.

📖 onlinelibrary.wiley.com/doi/10.1002/...
#IMD #Placenta #GSDIa #RareDisease #JIMDReports

New in JIMD 🧬
Liver gene therapy in GSD-Ia mice helps normalize renal metabolism, but fibrosis persists.
doi.org/10.1002/jimd.70048
#GSDIa #GeneTherapy #RareDisease #Nephropathy #JIMD

New study out today in JHEOR sheds light on the lived experience of people living with glycogen storage disease type Ia (GSDIa) and their caregivers. Second in a series on this rare, potentially severe genetic disorder. #rarediseases #gsdIa

New in JHEOR: The first in a series of three articles taking a deep dive into the costs, burden of disease, and quality-of-life issues associated with glycogen storage disease type Ia, a rare inherited disease. #jheor #rarediseases #GSDIa #HCRU #geneticdiseases
jheor.org/article/125886