Classic GalactosemiaPhase 2/3NCT04902781
Clinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic Galactosemia
A Phase 2/3 study testing AT-007 in people with Classic Galactosemia, run by Applied Therapeutics, Inc. at 3 sites in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 2 to 17 years
- Conditions the study is for
- Classic Galactosemia
- What is being tested?
- AT-007
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 47 participants
- Where
- 3 sitesUnited States
- Study dates
- 20 Mar 2021to 21 May 2025
- Phase
- Phase 2/3
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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.
Who cannot join
- Male/Female with no significant health problems (other than classic Galactosemia)
- No other disease that would preclude participation in the study.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
University of Michigan
Ann Arbor, Michigan, 48109
Rare Disease Research Center
Atlanta, Georgia, 30318
Children's Hospital Colorado
Aurora, Colorado, 80045
About this study
Official title: A Sequential, Two-Part Study to Evaluate the Clinical Benefit, Safety, Pharmacokinetics, and Pharmacodynamics of AT-007 in Pediatric Patients With Classic Galactosemia (CG)
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).
Read the 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
- Being tested
- AT-007, Placebo
- Keywords
- Galactosemia, Classic Galactosemia
- Medical subject headings
- Galactosemias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AT-007Drug
Also called aldose reductase inhibitor
Treatment with AT-007 given orally
PlaceboOther
Placebo given orally
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Drug: AT-007 |
| Placebo | Placebo comparator | Placebo given orally Receives: Other: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: Month 6, Month 12 and Month 18
Secondary outcomes (10)
Galactitol Level
The change from baseline in plasma galactitol (Pharmacodynamic measure)
Measured: Month 1, Month 2, Month 3, Month 6, Month 12, and Month 18
Behavioral Assessment System for Children-3 [Individual Components]
Behavioral Assessment System for Children (BASC-3) has a normal range of 40-60 with the higher score showing more difficulty. There are multiple outcome scores included such as: Behavioral Symptoms Index, Activities of Daily Living, Withdrawal, Adapatability, Adaptive Skills, Socialization, and Functional Impairment Index.
Measured: Month 6, Month 12 and Month 18
National Institute of Health Toolbox Cognition Battery
Change from baseline in the NIH Toolbox Cognition Battery (NIH-CB). The NIH-CB uses multiple tests to evaluate Cognition and consists of tests of multiple constructs to yield individual ranking and demonstrate Cognitive Function Composite, Fluid Cognition Composite Sequence Memory, List Sorting, Pattern Comparison, and Crystallized Cognition Composite, Picture Vocabulary and Reading Recognition. This is standardized normal or 100 with a standard deviation of 10. Higher scores are better.
Measured: Month 6, Month 12 and Month 18
Archimedes Spiral Drawing Test
The Archimedes Spiral Drawing Test evaluates tremor on a scale of 0 (no tremor) to 4 (severe tremor).
Measured: Month 6, Month 12 and Month 18
National Institute of Health Toolbox Motor Battery
NIH Toolbox Motor Battery (NIH-MB) is a multiple of tests to determine fine motor skills using the 9-Hole Pegboard Test and gross motor skills using the Standing Balance Test. This is standardized normal or 100 with a standard deviation of 10. Higher scores are better.
Measured: Month 6, Month 12 and Month 18
Scale for Assessment & Rating of Ataxia
Scale for Assessment \& Rating of Ataxia (SARA) is 0-40, the higher the score the worse value
Measured: Month 6, Month 12 and Month 18
Oral and Written Language Scales-II
Oral and Written Language Scales-II (OWLS-II) has both an Oral Expression and Listening Comprehension score. Scores are 0-100 with a standard deviation of 15.
Measured: Month 6, Month 12 and Month 18
Rate of Lens Opacity
Onset and severity/progression of cataracts using the Lens Opacity System (LOCS) III, has a grading scale of 1-4, with 4 the most severe as assessed by the reviewer per standard criteria for anterior and posterior obstruction of the eye.
Measured: Month 6, Month 12 and Month 18
Sexual maturation in female patients as indicated by Tanner Stage
Sexual maturation in female patients as indicated by Tanner Stage 1- 4 which is the ranking of physical development in children, adolescents and adults. This defines physical measurements of development based on external primary and secondary sex characteristics, such as the size of the breasts, and development of pubic hair. This is assessed by physical exam with Stage 1 per-pubescent and Stage 4 post pubescent.
Measured: Month 6, Month 12 and Month 18
Ovarian function in female patients determined by hormonal tests.
Ovarian function in female patients is recorded by hormonal measures: FSH (follicle stimulating hormone), estradiol, and LH (luteinizing hormone).
Measured: Month 6, Month 12 and Month 18
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2021
- Study start20 Mar 2021
- Primary completion3 Mar 2023
- Study completion21 May 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Classic GalactosemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2/3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 47 participants (actual)
Sponsor and investigators
- Lead sponsor
- Applied Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Susan E Waisbren, PhD, Study chair, Harvard UniversityJonathan W Mink, MD, Study chair, University of Rochester
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04902781
- Sponsor's protocol ID
- AT-007-1002
- Status last verified
- Oct 2025
- First submitted
- 14 Jul 2020
- Last updated
- 29 Oct 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Bailey E, Phan H, Ahmad A, Thomas J, Ames EG, Pritchard AB, Quinonez SC, Wang S, Dayley C, Salt A, Pick C, Durrant A, Johnson S, Nicodemus-Johnson J, Dickson SP, Perfetti R, Hendrix SB, Shendelman S. Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia. J Clin Pharmacol. 2025 May;65(5):575-587. doi: 10.1002/jcph.6170. Epub 2024 Nov 21.
PubMed 39569553
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Sequential, Two-Part Study to Evaluate the Clinical Benefit, Safety, Pharmacokinetics, and Pharmacodynamics of AT-007 in Pediatric Patients With Classic Galactosemia (CG)
- ClinicalTrials.gov ID
- NCT04902781
- Acronym / sponsor ID
- AT-007-1002
- Conditions
- Classic Galactosemia
- Keywords
- Galactosemia, Classic Galactosemia
- Phase
- Phase 2/3
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 47 participants (actual)
- Lead sponsor
- Applied Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 20 Mar 2021 (actual)
- Primary completion
- 3 Mar 2023 (actual)
- Study completion
- 21 May 2025 (actual)
- First posted
- 26 May 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Experimental: AT-007 | Experimental | Drug: AT-007AT-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 |
| Placebo | Placebo comparator | Other: PlaceboPlacebo given orally |
Who may qualify
- Ages
- 2 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (2 listed)
- Male/Female with no significant health problems (other than classic Galactosemia)
- No other disease that would preclude participation in the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AT-007Also: aldose reductase inhibitorTreatment with AT-007 given orally | Drug | Experimental: AT-007 |
| PlaceboPlacebo given orally | Other | Placebo |
Primary outcome
Global Statistical Test (GST)
Time frame: Month 6, Month 12 and Month 18
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.
Sensitivity Analysis of the Primary Endpoint (GST) with Cognition
Time frame: Month 6, Month 12 and Month 18
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.
Sensitivity Analysis of the Primary Endpoint (GST) with Fine Motor Skills
Time frame: Month 6, Month 12 and Month 18
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.
10 secondary outcomes
Galactitol Level
Time frame: Month 1, Month 2, Month 3, Month 6, Month 12, and Month 18
Behavioral Assessment System for Children-3 [Individual Components]
Time frame: Month 6, Month 12 and Month 18
National Institute of Health Toolbox Cognition Battery
Time frame: Month 6, Month 12 and Month 18
Archimedes Spiral Drawing Test
Time frame: Month 6, Month 12 and Month 18
National Institute of Health Toolbox Motor Battery
Time frame: Month 6, Month 12 and Month 18
Scale for Assessment & Rating of Ataxia
Time frame: Month 6, Month 12 and Month 18
Oral and Written Language Scales-II
Time frame: Month 6, Month 12 and Month 18
Rate of Lens Opacity
Time frame: Month 6, Month 12 and Month 18
Sexual maturation in female patients as indicated by Tanner Stage
Time frame: Month 6, Month 12 and Month 18
Ovarian function in female patients determined by hormonal tests.
Time frame: Month 6, Month 12 and Month 18
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2025.
- Derived from this study: PubMed 39569553Bailey E, Phan H, Ahmad A, Thomas J, Ames EG, Pritchard AB, Quinonez SC, Wang S, Dayley C, Salt A, Pick C, Durrant A, Johnson S, Nicodemus-Johnson J, Dickson SP, Perfetti R, Hendrix SB, Shendelman S. Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia. J Clin Pharmacol. 2025 May;65(5):575-587. doi: 10.1002/jcph.6170. Epub 2024 Nov 21.
- Individual participant dataSharing planned: No
Related trials for Classic Galactosemia
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Galactosemia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Susan E Waisbren, PhD study chair
Harvard University
Jonathan W Mink, MD study chair
University of Rochester
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2/3 study testing AT-007 in people with Classic Galactosemia, run by Applied Therapeutics, Inc. at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Global Statistical Test (GST) (time frame: Month 6, Month 12 and Month 18). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04902781, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2025.