Gaucher Disease Type 3
Conditions
Keywords
Nizubaglustat
Brief summary
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).
Interventions
DRUGAZ-3102
Daily oral intake of AZ-3102 orodispersible tablets
Sponsors
Azafaros B.V.
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
4 Years to 30 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in hemoglobin levels from Baseline | 24 weeks | — |
| Change in platelet count from Baseline | 24 weeks | — |
| Change in total spleen volume from Baseline | 24 weeks | Assessed using magnetic resonance imaging (MRI) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in the Clinical Global Impression of Severity (CGI-S) score compared to Baseline | 24 weeks | Scale ranges from 1 to 7, where a higher score equals a worse outcome. |
| Change in the Participant/caregiver Global Impression of Severity (PGI-S) score compared to Baseline | 24 weeks | Scale ranges from 1 to 7, where a higher score equals a worse outcome. |
| Clinical Global Impression of Change (CGI-C) score | 24 weeks | Scale ranges from 1 to 7, where a 1 equals improvement and 7 equals a deterioration. |
| Participant/Caregiver Global Impression of Change (PGI-C) score | 24 weeks | Scale ranges from 1 to 7, where a 1 equals improvement and 7 equals a deterioration. |
| 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 | — |
Countries
India, Pakistan, Turkey (Türkiye)
Contacts
CONTACTPatient Advocacy Representative
CONTACTContact for Healthcare Professionals
Outcome results
None listed