Glycogen Storage Disease Type Ia
Conditions
Keywords
GSDIa, GSD1a
Brief summary
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.
Interventions
DRUGBEAM-301: Single dose of BEAM-301 administered by IV
BEAM-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.
Sponsors
Beam Therapeutics Inc.
Study design
Allocation
NA
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
up to 4 planned, single-ascending-dose, dose-exploration cohorts
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
1. Males or females age ≥18 years of age at the time of consent. 2. Diagnosis of GSDIa and homozygous or compound heterozygous for the G6PC1 c.247C\>T (p.R83C) variant (confirmed by genetic testing). 3. History of at least 1 episode of hypoglycemia \<60 mg/dL within the 2 years prior to signing the ICF.
Exclusion criteria
1. Liver transplant recipient/on waiting list for liver transplant or known history of liver cirrhosis. 2. 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. 3. Presence of liver adenoma \>3 cm and ≤5 cm with a documented annual growth rate of ≥0.5 cm per year. 4. Have aspartate transaminase or alanine transaminase \>upper limit of normal (ULN). 5. Total bilirubin levels \>ULN; if documented Gilbert's Syndrome, total bilirubin \>2 × ULN. 6. Previous treatment with any cell-, gene-, or viral vector-derived therapy Hospitalization for management of hypoglycemia within 4 weeks prior to signing the ICF. 7. Have triglycerides \>1000 mg/dL or a history of pancreatitis or a history of acute pancreatitis within 5 years that does not have a known and corrected etiology (eg, cholecystectomy for gallstone pancreatitis).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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 | BEAM-301 administration through month 24 |
Secondary
| Measure | Time frame |
|---|---|
| Changes from baseline in starch supplementation dose | Baseline to month 24 |
| Level of serum glucose and metabolic parameters (lipid profile and uric acid) over time | Baseline to month 24 |
| Absolute and change from baseline in time to hypoglycemia or metabolic decompensation during a controlled fasting challenge | Baseline to month 24 |
| BEAM-301 PK parameters (AUC) | Baseline to month 24 |
| BEAM-301 PK parameters (half-life) | Baseline to month 24 |
| BEAM-301 PK parameters (Cmax) | Baseline to month 24 |
Countries
United States
Contacts
Primary ContactMedical Information
Outcome results
None listed