Clinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic Galactosemia

NCT ID: NCT04902781

Last Updated: 2025-10-29

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2/PHASE3
• Total Enrollment: 47 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-03-20
• Study Completion Date: 2025-05-21

Brief Summary

This study is designed to assess the clinical benefit as well as the safety, pharmacokinetics (PK), and pharmacodynamics (PD) (reduction of galactitol levels) of AT-007 in pediatric subjects with Classic Galactosemia (CG).

Detailed Description

This is a randomized, double-blind, placebo-controlled study in pediatric subjects with CG. Children with CG ages 2 through 17 years will be enrolled. The study is designed to assess the clinical benefit using validated, standardized Clinical Outcome Assessments (COAs) as well as the safety, PK, and PD (reduction of galactitol levels) of AT-007 in pediatric subjects with CG. The study consists of 2 main parts, Part A and Part B, and an open-label extension (OLE).

Part A is an intra-patient dose escalation evaluating multiple ascending doses (MAD) of AT-007.

Part B is designed to assess the clinical benefits of long-term administration of AT-007 (at the optimum dose identified in Part A) on validated, standardized COAs.

Open-label extension (OLE) is an active treatment extension for patients who received placebo treatment in Part B.

Conditions

Classic Galactosemia

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: TREATMENT
• Blinding Strategy: QUADRUPLE

Study Groups

Placebo

Placebo given orally

Group Type: PLACEBO_COMPARATOR

Placebo

Intervention Type: OTHER

Placebo given orally

Experimental: AT-007

AT-007 The starting dose in Part A will be 5 mg/kg for all age groups. For each age group, Part B of the study will not start until the optimum dose evaluated in Part A has been identified

Group Type: EXPERIMENTAL

AT-007

Intervention Type: DRUG

Treatment with AT-007 given orally

Interventions

AT-007

Treatment with AT-007 given orally

Intervention Type: DRUG

Placebo

Placebo given orally

Intervention Type: OTHER

Other Intervention Names

aldose reductase inhibitor

Eligibility Criteria

Inclusion Criteria

• Male
• Female non-pregnant
• Female non-lactating subjects aged ≥2 to <18 years.
• Diagnosis of Classic Galactosemia, confirmed by <1% GALT (galactose-1-phosphate uridyltransferase) enzyme activity in erythrocytes, or a historical record of diagnosis of <1% GALT enzyme activity.

Exclusion:

• Male/Female with no significant health problems (other than classic Galactosemia)
• No other disease that would preclude participation in the study.

• Minimum Eligible Age: 2 Years
• Maximum Eligible Age: 17 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Applied Therapeutics, Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Susan E Waisbren, PhD

Role: STUDY_CHAIR

Harvard University

Jonathan W Mink, MD

Role: STUDY_CHAIR

University of Rochester

Locations

Children's Hospital Colorado

Aurora, Colorado, United States

Rare Disease Research Center

Atlanta, Georgia, United States

University of Michigan

Ann Arbor, Michigan, United States

Countries

United States

Other Identifiers

AT-007-1002

Identifier Type: -

Identifier Source: org_study_id