A Phase 1/2, Dose-Exploration Study to Evaluate the Safety and Efficacy of BEAM-301 in Patients With Glycogen Storage Disease Type Ia (GSDIa)

Официальное название

A Phase 1/2, Dose-Exploration Study to Evaluate the Safety and Efficacy of BEAM-301 in Patients With Glycogen Storage Disease Type Ia (GSDIa) Homozygous or Compound Heterozygous for the G6PC1 c.247C>T (p.R83C) Variant

Обзор

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.

Вмешательства

• Препарат BEAM-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.

Первичные конечные точки

• 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 [Срок оценки: BEAM-301 administration through month 24]

Вторичные конечные точки (6)

• Absolute and change from baseline in time to hypoglycemia or metabolic decompensation during a controlled fasting challenge [Срок оценки: Baseline to month 24]
• Changes from baseline in starch supplementation dose [Срок оценки: Baseline to month 24]
• Level of serum glucose and metabolic parameters (lipid profile and uric acid) over time [Срок оценки: Baseline to month 24]
• BEAM-301 PK parameters (Cmax) [Срок оценки: Baseline to month 24]
• BEAM-301 PK parameters (AUC) [Срок оценки: Baseline to month 24]
• BEAM-301 PK parameters (half-life) [Срок оценки: Baseline to month 24]

Критерии участия

Критерии включения

• 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.

Критерии исключения

• 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).
• Total bilirubin levels >ULN; if documented Gilbert's Syndrome, total bilirubin >2 × ULN.
• Previous treatment with any cell-, gene-, or viral vector-derived therapy Hospitalization for management of hypoglycemia within 4 weeks prior to signing the ICF.
• 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).

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение

Не применимо

Модель

Последовательный дизайн

Маскирование

Открытое

Основная цель

Лечение

Центры проведения

США · 3 центра

• Clinical Study Site — Orange
• Clinical Study Site — Farmington
• Clinical Study Site — Houston

Идентификаторы

NCT: NCT06735755 · BTX-301-001

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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