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

NCT04902781 | Completed Phase 2 DMC FDA Drug

• 1 other identifier: AT-007-1002
• Study Type: interventional
• Target: 47
• Locations: 1 country
• Sites: 3

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).

Conditions

Classic Galactosemia

Keywords

Galactosemia; Classic Galactosemia

Outcome Measures

Primary Outcomes (3)

• Global Statistical Test (GST)

  The primary endpoint is a GST of four components: 1) Behavioral Symptoms Index of the Behavioral Assessment Scale for Children 3 (BASC-3); 2) Activities of Daily Living from the BASC-3; 3) Oral Expression from the Oral and Written Language Skills-II (OWLS-II); 4) Listening Comprehension from the OWLS-II. Each individual component is also a secondary endpoint on their own with the test and scoring described below in the secondary endpoint section. For the GST, change from baseline using standardized z-scores is calculated for active versus placebo.

  Month 6, Month 12 and Month 18

• Sensitivity Analysis of the Primary Endpoint (GST) with Cognition

  Sensitivity Analysis adding the National Institutes of Health Toolbox Cognition Battery (NIH-CB) test which measures cognition. NIH-CB is described below in the secondary endpoints. For the GST with cognition, change from baseline using standardized z-scores is calculated for active versus placebo.

  Month 6, Month 12 and Month 18

• Sensitivity Analysis of the Primary Endpoint (GST) with Fine Motor Skills

  Sensitivity Analysis adding the National Institutes of Health Toolbox Motor Battery (NIH-MB) 9-Hole Pegboard test which measures fine motor skills. NIH-MB is described below in the secondary endpoints. For the GST with fine motor skills, change from baseline using standardized z-scores is calculated for active versus placebo.

  Month 6, Month 12 and Month 18

Secondary Outcomes (10)

• Galactitol Level

  Month 1, Month 2, Month 3, Month 6, Month 12, and Month 18

• Behavioral Assessment System for Children-3 [Individual Components]

  Month 6, Month 12 and Month 18

• National Institute of Health Toolbox Cognition Battery

  Month 6, Month 12 and Month 18

• Archimedes Spiral Drawing Test

  Month 6, Month 12 and Month 18

• National Institute of Health Toolbox Motor Battery

  Month 6, Month 12 and Month 18

Other Outcomes (3)

• Biomarker Analysis [Exploratory]

  Month 1, Month 2, Month 3, Month 6, Month 12, and Month 18

• Bayley Scales of Infant and Toddler Development-4 [Exploratory]

  Month 6, Month 12 and Month 18

• Vineland Adaptive Behavior Scales-3 [Exploratory]

  Month 6, Month 12 and Month 18

Study Arms (2)

Experimental: AT-007

EXPERIMENTAL

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

Drug: AT-007

Placebo

PLACEBO COMPARATOR

Placebo given orally

Other: Placebo

Interventions

AT-007 DRUG

Treatment with AT-007 given orally

Also known as: aldose reductase inhibitor

Experimental: AT-007

Placebo OTHER

Placebo given orally

Placebo

Eligibility Criteria

• Age: 2 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Applied Therapeutics, Inc.: lead

Study Sites (3)

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

Rare Disease Research Center

Atlanta, Georgia, 30318, United States

Location

University of Michigan

Ann Arbor, Michigan, 48109, United States

Location

MeSH Terms

Conditions

Galactosemias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Susan E Waisbren, PhD

  Harvard University

  STUDY CHAIR

• Jonathan W Mink, MD

  University of Rochester

  STUDY CHAIR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 14, 2020
• First Posted: May 26, 2021
• Study Start: March 20, 2021
• Primary Completion: March 3, 2023
• Study Completion: May 21, 2025
• Last Updated: October 29, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)