This is a Phase 1/2, multicenter, open-label, single-ascending-dose study to evaluate the safety, tolerability, and efficacy of BEAM-301 in adult patients with GSDIa homozygous or compound heterozygous for the G6PC1 c.247C\>T (p.R83C) variant and to determine the optimal biological dose.
Males or females age ≥18 years of age at the time of consent.
Diagnosis of GSDIa and homozygous or compound heterozygous for the G6PC1 c.247C>T (p.R83C) variant (confirmed by genetic testing).
History of at least 1 episode of hypoglycemia <60 mg/dL within the 2 years prior to signing the ICF.
Liver transplant recipient/on waiting list for liver transplant or known history of liver cirrhosis.
Presence of liver adenoma >5 cm in size based on liver MRI or liver ultrasound performed at screening or within 6 months prior to screening.
Presence of liver adenoma >3 cm and ≤5 cm with a documented annual growth rate of ≥0.5 cm per year.
Have aspartate transaminase or alanine transaminase >upper limit of normal (ULN).
Sequential
BEAM-301: Single dose of BEAM-301 administered by IV
DrugBEAM-301 is designed to correct the G6PC1 c.247C\>T allele via an A:T-to-G:C base-pair substitution, resulting in restoration of G6Pase-α catalytic activity.
To evaluate the safety and tolerability of BEAM-301 in patients with GSDIa with a G6PC1 c.247C>T (p.R83C) variant by measuring incidence of treatment-emergent adverse events (TEAEs) including serious adverse events (SAEs) and dose-limiting toxicities (DL
Absolute and change from baseline in time to hypoglycemia or metabolic decompensation during a controlled fasting challenge
Changes from baseline in starch supplementation dose
Level of serum glucose and metabolic parameters (lipid profile and uric acid) over time
BEAM-301 PK parameters (Cmax)
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