Study to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3)

96-week, Open-label, Phase 2 Study to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3)

A 96-week, open-label, Phase 2 study to evaluate the efficacy and safety of Nizubaglustat (AZ-3102) in patients with Gaucher disease type 3 (GD3).

Study Overview

• Status: Not yet recruiting
• Conditions: Gaucher Disease Type 3
• Intervention / Treatment: Drug: AZ-3102

• Study Type: Interventional
• Enrollment (Estimated): 20
• Phase: Phase 2

Contacts and Locations

• Study Contact: Name: Contact for Healthcare Professionals; Phone Number: Please reach out by email; Email: medinfo@azafaros.com
• Study Contact Backup: Name: Patient Advocacy Representative; Phone Number: Please reach out by email; Email: info@azafaros.com

Study Locations

• India
  • Jaipur, India, 302004
    • SMS Medical College Jaipur
  • New Delhi, India, 110060
    • Sir Ganga Ram Hospital
  • New Delhi, India, 110002
    • Maula a Azad medical college Delhi
• Pakistan
  • Lahore, Pakistan
    • University of Child Health Sciences and the Children's Hospital
  • Peshawar, Pakistan
    • Clininal Trial Unit, Rehman Medical Institute
• Turkey (Türkiye)
  • Yenimahalle, Turkey (Türkiye), 06560
    • Gazi University Medical Faculty Hospital
  • İzmir
    • Bornova, İzmir, Turkey (Türkiye), 35100
      • Ege Universitesi Tip Fakultesi Hastanesi

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Have a confirmed diagnosis of GD3 disease
• Have at least 2 impaired domains in the Modified Severity Scoring Tool (mSST) at Screening
• Be aged 4-30 years old at the time of informed consent
• Have the following symptoms of GD3 identified at Screening: GD-related anemia, thrombocytopenia, splenomegaly
• Female participants of childbearing potential who are sexually active and willing to follow contraceptive guidance
• Male participants with a female partner of childbearing potential who are willing to follow contraceptive guidance

Exclusion Criteria:

• Any condition at Screening or Baseline that, in the opinion of the Principal Investigator, could interfere with study assessments
• History of medical conditions other than GD3 that, in the opinion of the Principal Investigator, could confound scientific rigor or interpretation of results
• Body weight <10 kg at Screening
• Presence of a neurologic disease other than GD3
• Transfusion dependence
• Prior splenectomy
• The presence of severe renal impairment at Screening
• Prior use of an investigational drug within 3 months before Screening
• Prior participation in a clinical study involving gene therapy or stem cell transplantation
• Current treatment, or treatment in the last 12 months before Screening, with enzyme replacement therapy (ERT) and/or substrate reduction therapy (SRT)
• A positive serum pregnancy test (for women of childbearing potential)
• Electrocardiogram (ECG) with an average Fridericia-corrected QT interval (QTcF) of >450 msec for males and >470 msec for females at Screening
• Known allergies to azasugars or any study drug excipient

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Nizubaglustat; Participants will receive Nizubaglustat (AZ-3102) once daily during Study Period 1 (24 weeks), with a possible extension into Study Period 2 (72 weeks).	Drug: AZ-3102; Daily oral intake of AZ-3102 orodispersible tablets

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in hemoglobin levels from Baseline		24 weeks
Change in platelet count from Baseline		24 weeks
Change in total spleen volume from Baseline	Assessed using magnetic resonance imaging (MRI)	24 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in the Clinical Global Impression of Severity (CGI-S) score compared to Baseline	Scale ranges from 1 to 7, where a higher score equals a worse outcome.	24 weeks
Change in the Participant/caregiver Global Impression of Severity (PGI-S) score compared to Baseline	Scale ranges from 1 to 7, where a higher score equals a worse outcome.	24 weeks
Clinical Global Impression of Change (CGI-C) score	Scale ranges from 1 to 7, where a 1 equals improvement and 7 equals a deterioration.	24 weeks
Participant/Caregiver Global Impression of Change (PGI-C) score	Scale ranges from 1 to 7, where a 1 equals improvement and 7 equals a deterioration.	24 weeks
Peak plasma concentration (Cmax) of Nizubaglustat		24 weeks
Area under the plasma concentration versus time curve (AUC0-24) for Nizubaglustat		24 weeks
Change in plasma and cerebrospinal fluid (CSF) concentrations of glucosylceramide (GlcCer) C16:0 and C18:0		24 weeks
Change in plasma and cerebrospinal fluid (CSF) concentrations of glucosylsphingosine (glcSph)		24 weeks

Collaborators and Investigators

• Sponsor: Azafaros B.V.

Study record dates

Study Major Dates

• Study Start (Estimated): September 28, 2026
• Primary Completion (Estimated): January 1, 2028
• Study Completion (Estimated): July 1, 2029

Study Registration Dates

• First Submitted: June 8, 2026
• First Submitted That Met QC Criteria: July 15, 2026
• First Posted (Actual): July 20, 2026

Study Record Updates

• Last Update Posted (Actual): July 20, 2026
• Last Update Submitted That Met QC Criteria: July 15, 2026
• Last Verified: July 1, 2026

More Information

Terms related to this study

• Keywords: Nizubaglustat
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Sphingolipidoses; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Gaucher Disease
• Other Study ID Numbers: AZA-001-202-GD3

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No