Galactosemia MedDRA version: 20.0 Level: LLT Classification code 10017610 Term: Galactosemia System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Product Name: Govorestat
Product Code: AT-007
Pharmaceutical Form: Oral suspension
INN or Proposed INN: Govorestat
CAS Number: 2170729-29-8
Current Sponsor code: AT-007
Concentration unit: mg/ml milli
Sponsors
Applied Therapeutics Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Male or non-pregnant, non-lactating female patient aged =2 to =65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1. History or presence of clinically significant hematopoietic, hepatic (i.e. ALT or AST or total bilirubin > 1.5 x ULN), endocrine, metabolic, pulmonary, neurological, psychiatric, immunological, dermatological, or gastrointestinal diseases; conditions capable of altering the absorption, metabolism, or elimination of drugs; or conditions that constitute a risk factor when taking the study drug and/or impact the conduct or results of the study. 2. Evidence of diagnosis of any type of galactosemia other than CG. Subjects with Duarte variant galactosemia are not eligible. 3. Severe cognitive impairment defined as: a. Bayley Scales of Infant and Toddler Development (Bayley-4) Development Quotient 30 months to 140/90 mmHg in children =13 to 120/80 in children =7 to =12 y.o; >110/80 in children aged =2 to =6 y.o). 7. Clinically significant overweight or Body Mass Index > 97th percentile for the specific age. 8. Clinically significant underweight (in the opinion of the PI) and BMI < 3rd percentile for the specific age and gender. 9. Positive test for hepatitis B (HBV) surface antigen, hepatitis C (HCV) antibody, or human immunodeficiency virus (HIV) at screening or previous treatment for HBV, HCV, or HIV infection. 10. Abnormal findings on the screening 12-lead ECG, such as ST/T wave changes of ischemia, pathological Q wave changes, or any rhythm other than normal sinus rhythm. 11. Evidence of significant active hematological disease and/or cumulative blood donation of 1 unit (500 mL) or more including blood drawn during clinical studies in the last 90 days. 12. Pregnant, lactating, or not using/not willing to use appropriate means of contraception. 13. Any prior history of substance abuse or treatment for such. 14. History of clinically significant drug hypersensitivity reactions. 15. Immediate family members of Investigators and site personnel directly affiliated with this study (defined as a child or sibling, whether biological or legally adopted). 16. Any significant health problems unrelated to CG or any other condition that, in the opinion of the PI, precludes the patient from following and completing the protocol. 17. Unwilling to comply with a galactose-restricted diet. 18. Positive urine screen for drugs of abuse unless clinically indicated. 19. Participation in another clinical trial of a different IMP (rando
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To evaluate the clinical benefit of long-term orally-administered AT-007 (govorestat) on how pediatric patients with Classic Galactosemia (CG) feel and function as a composite sum of change on speech and language skills, behavior and daily living skills (as measured Oral and Written Language Scales [OWLS-II] and Behavior Assessment System for Children 3rd Edition [BASC-3] tests);Secondary Objective: Evaluate the following parameters of orally-administered AT-007 in paediatric patinets with CG: -The efficacy in reducing the pharmacodynamic biomarker, galactitol. - The efficacy of long-term in preventing or ameliorating behavioral and developmental symptoms as measured by the BASC test; speech and language symptoms as measured by the OWLS test; impairment in cognitive function via National Institutes of Health (NIH) Toolbox Cognition Battery; movement disorders of the upper limbs as assessed by the Archimedes Spiral Drawing Test and 9-Hole Pegboard test; impairment in gross and fine motor function as assessed by Standing Balance test and the Scale for the Assessment and Rating of Ataxia (SARA). -The efficacy of long-term in preventing early-onset and/or progression of cataracts. -The clinical benefit of long-term on sexual maturation and ovarian function in pediatric female patients with CG. -The safety of AT-007. -The PK parameters of multiple doses of AT-007.;Primary end point(s): Changes in the following 4 domains from baseline to Month 6 and every 6 months thereafter (i.e., changes from baseline to Month 12, Month 18, etc.) - Speech and Language (OWLS-II, both Expressive Language (also termed Oral Expression test) and Receptive Language (also termed Listening Comprehension) domains) - BASC-3 Behavioral Symptoms index (includes atypicality, withdrawal, attention) and BASC-3 Daily Living domain - Sensitivity analyses were performed including manual dexterity (9-Hole Pegboard Test) and cognitive function (NIH Toolbox Cognition Battery);Timepoint(s) of | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): - Changes in each of the individual domains/tests noted above as components of the primary endpoint (including individual components of the BASC test), and the components of the primary endpoint sensitivity analyses (Cognition and 9-Hole Pegboard Test [9HPT]) - Changes in gross motor skills, as measured by NIH Toolbox Motor Battery Standing Balance test - Changes in plasma galactitol from baseline - Changes in tremor assessed by the Archimedes Spiral Drawing Test - Changes in gross and fine motor function as assessed by SARA - Changes in onset and severity/progression of cataracts using the Lens Opacities Classification System III (LOCS III) - Changes in sexual maturation and ovarian function in female patients (based on follicle stimulating hormone [FSH], luteinizing hormone [LH], estradiol, Tanner stage milestones, and clinical endocrinology examination) - PK parameters ;Timepoint(s) of evaluation of this end point: Baseline to Month 6, Month 12 and Month 18. | — |
Countries
United States
Contacts
Public ContactChief medical officer
Applied Therapeutics Inc.
Outcome results
None listed