Adults 18 to 50, any sex, with Gaucher Disease. Patients with the condition only — healthy volunteers not accepted.
Results — posted to ClinicalTrials.gov
Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.
Number of Clinically Significant Adverse Events (AEs) and Serious Adverse Events (SAEs) of AVR-RD-02Primary· Baseline to 52 weeks post-AVR-RD-02 treatment follow-up
An AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. An SAE is an AE resulting in any of the following outcomes or deemed significant for any other reason: death; initial or prolonged inpatient hospitalization; life threatening experience (immediate risk of dying); persistent or significant disability/incapacity; congenital anomaly. The AE/SAE are also inclusive of any abnormalities in Clinical Laboratory Tests, Vital Signs and in Electrocardiographs (ECGs).
AE/SAE can either be related to AVR-RD-02 infusion o
SAEs Related to AVR-RD-02 Infusion
Group
Value
95% CI
Switch Stable
0
AEs Related to AVR-RD-02 Infusion
Group
Value
95% CI
Switch Stable
0
SAEs Not Related to AVR-RD-02 Infusion
Group
Value
95% CI
Switch Stable
2
AEs Not Related to AVR-RD-02 Infusion
Group
Value
95% CI
Switch Stable
189
Vector Copy Number (VCN) in Peripheral Blood as Assessed by Quantitative Polymerase Chain Reaction (qPCR) and/or Droplet Digital Polymerase Chain Reaction (ddPCR)Primary· Baseline to 52 weeks post-AVR-RD-02 treatment follow-up
VCN, defined as the average number of copies of the therapeutic gene (transgene) in a sample of cells, is conventionally reported as the number of vector copies found in a sample, relative to copies of a reference gene in the human genome. This is an estimate of the number of integration sites per cell (on average). A VCN of 1 would signify that a sample of cells evaluated contains on average at least one \[working\] copy of the therapeutic transgene per cell. This measurement was for VCN in a sample of progenitor cells obtained from a peripheral blood sample.
Group
Value
95% CI
Switch Stable
0.55
0.17 – 0.86
Change From Baseline in Spleen Volume Assessed by Abdominal MRIPrimary· Baseline to 52 weeks post-AVR-RD-02 treatment follow-up
Percent change in spleen volume = (\[spleen volume at Week 52 minus spleen volume at baseline\] divided by \[spleen volume at baseline\]) multiplied by 100. A reduction in the percent change from baseline (%CFB) in spleen volume (mL) is a positive indicator of efficacy.
Group
Value
95% CI
Switch Stable
-17.03
-22.8 – -10.9
Change From Baseline in Liver Volume Assessed by Abdominal MRIPrimary· Baseline to 52 weeks post-AVR-RD-02 treatment follow-up
Percent change in liver volume = (\[liver volume at Week 52 minus liver volume at baseline\] divided by \[liver volume at baseline\]) multiplied by 100. A reduction in the percent change from baseline (%CFB) in liver volume (mL) is a positive indicator of efficacy.
Group
Value
95% CI
Switch Stable
-4.95
-21.1 – 7.8
Change From Baseline in Hemoglobin ConcentrationPrimary· Baseline to 52 weeks post-AVR-RD-02 treatment follow-up
Ratio to baseline indicates the percent change in hemoglobin concentration. The baseline value is defined as 1 or 100%. A ratio to Baseline \<1 indicates a reduction in hemoglobin concentration and a ratio to Baseline \>1 indicates an increase in hemoglobin concentration.
Group
Value
95% CI
Switch Stable
1.00
0.87 – 1.14
Change From Baseline in Platelet CountPrimary· Baseline to 52 weeks post-AVR-RD-02 treatment follow-up
Ratio to baseline indicates the percent change in platelet count. The Baseline value is defined as 1 or 100%. A ratio to Baseline \<1 indicates a reduction in platelet count and a ratio to Baseline \>1 indicates an increase in platelet count.
Group
Value
95% CI
Switch Stable
0.83
0.64 – 1.08
Change From Baseline in Plasma Lyso-Gb1 Levels by Liquid Chromatography Tandem Mass Spectrometry (LC/MS/MS)Primary· Baseline to 52 weeks post-AVR-RD-02 treatment follow-up
Glucosylsphingosine (lyso-Gb1) is the substrate that accumulates in the lysosomes of patients affected by Gaucher disease as a result of deficiencies in GCase enzyme activity. Treatment with AVR-RD-02 is intended to replace the missing GCase enzymatic activity, which allows degradation of accumulated lyso-Gb1 substrate in the lysosomes. Negative values (decrease from Baseline) are an indicator of efficacy.
Group
Value
95% CI
Switch Stable
-12.03
-29.50 – -0.50
Change From Baseline in GCase Enzyme Activity Level in PlasmaSecondary· Weeks 13, 26, 39, and 52
Treatment-naïve Gaucher patients are deficient in glucosylcerebrosidase (GCase) enzyme activity due to mutations in the GBA gene. AVR-RD-02 is intended to increase the amount of GCase enzyme activity in the lysosomes of treated subjects. A positive value (increase from Baseline in GCase enzyme activity) is a positive indicator of efficacy.
Week 13
Group
Value
95% CI
Switch Stable
7.6
1.8 – 10.9
Week 26
Group
Value
95% CI
Switch Stable
5.0
4.0 – 5.9
Week 39
Group
Value
95% CI
Switch Stable
4.9
1.7 – 8.4
Week 52
Group
Value
95% CI
Switch Stable
1.5
-1.8 – 3.6
Change From Baseline in GCase Enzyme Activity Level in Peripheral Blood LeukocytesSecondary· Weeks 13, 26, 39, and 52
Treatment-naïve Gaucher patients are deficient in glucosylcerebrosidase (GCase) enzyme activity due to mutations in the GBA gene. AVR-RD-02 is intended to increase the amount of GCase enzyme activity in the lysosomes of treated subjects. A positive value (increase from Baseline in GCase enzyme activity) is a positive indicator of efficacy.
Week 13
Group
Value
95% CI
Switch Stable
13.3
11.0 – 15.6
Week 26
Group
Value
95% CI
Switch Stable
19.2
19.2 – 19.2
Week 39
Group
Value
95% CI
Switch Stable
6.0
0.6 – 13.2
Week 52
Group
Value
95% CI
Switch Stable
7.1
0.2 – 11.5
Number of Subjects Who Restarted ERTSecondary· Between Week 26 and Week 52 post-AVR-RD-02 treatment
The absence of the need to re-start ERT post treatment is a positive indicator of efficacy.
Group
Value
95% CI
Switch Stable
0
Change From Baseline in Presence of Anti-GCase Total AntibodiesSecondary· At Weeks 5, 13, 26, 39, and 52
Number of subjects with changes in anti-GCase antibodies from Baseline to post infusion timepoints. Unit of measure: Number of subjects negative at baseline but positive at post-treatment timepoints. A negative or zero result (titer lower or unchanged at post-infusion timepoints compared to Baseline) indicates no immune response to the therapeutic protein.
Week 5
Group
Value
95% CI
Switch Stable
0
Week 13
Group
Value
95% CI
Switch Stable
0
Week 26
Group
Value
95% CI
Switch Stable
0
Week 39
Group
Value
95% CI
Switch Stable
0
Week 52
Group
Value
95% CI
Switch Stable
0
Change From Baseline in Bone Mineral Density (BMD) Assessed by Bone Density Scan (DXA)Secondary· Baseline to 52 weeks post-AVR-RD-02 treatment follow-up
An increase in BMD is a positive indicator of efficacy. Subjects had T-scores reported for change from baseline in Bone Mineral Density in the Femoral Neck and Lumbar Spine regions assessed by Bone Mineral Density (DXA).
The T-score on the subject's bone density report shows how many standard deviations the subject's bone mass differs from the bone mass of an average healthy 30-year-old adult. If the bones are more dense than the average 30-year-old adult, the bone mass will be indicated as a positive T-score. Higher positive T-score indicates greater bone density. If the bones are less dense
Femoral Neck Bone Mineral Density
Group
Value
95% CI
Switch Stable
0.0
0.0 – 0.0
Lumbar Spine Bone Mineral Density (maximum)
Group
Value
95% CI
Switch Stable
0.0
-0.7 – 0.7
Adverse events — posted to ClinicalTrials.gov
Time frame: Up to week 52.
Reporting threshold: 5%.
Adverse-event reports describe events observed during the trial — not all are caused by the drug.
This was a multinational, open-label study to assess the safety and efficacy of AVR-RD-02 in approximately 8 to 16 subjects (male or female) who are ≥18 and ≤50 years of age and post pubertal at Screening with a confirmed diagnosis of Type 1 Gaucher disease (based on clinical phenotype, genotyping, and deficient GCase enzyme activity in whole blood).
Publications & conference data
8 peer-reviewed publications reference this trial (live from Europe PMC):
NCT06528080 — A Clinical Study for the Treatment of Pediatric and Adolescent Patients With Type 1 Gaucher Disease
· EARLY_PHASE1
· active not recruiting
NCT06573723 — Institutional Registry of Rare Diseases
· recruiting
NCT06539169 — FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
· recruiting
NCT05843552 — Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
· recruiting
NCT05487599 — A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)
· Phase 1, PHASE2
· recruiting
Other AVROBIO trials
Trials by the same sponsor.
NCT04836377 — A Long-Term Follow-up Study of Subjects With Gaucher Disease Who Previously Received AVR-RD-02
· terminated
NCT04999059 — Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201
· terminated
NCT03454893 — Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry Disease
· Phase 1, PHASE2
· terminated
Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
Sponsor: as reported to ClinicalTrials.gov by AVROBIO
Last refreshed: 18 January 2024
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT04145037.