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Trial details imported from

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Registration number
Ethics application status
Date submitted
Date registered
Date last updated

Titles & IDs
Public title
Phase 1/2 Lentiviral Vector Gene Therapy - The GuardOne Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease
Scientific title
An Adaptive, Open-Label, Multinational Phase 1/2 Study Of The Safety and Efficacy of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-02 for Subjects With Type 1 Gaucher Disease
Secondary ID [1] 0 0
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Gaucher Disease 0 0
Condition category
Condition code
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders

Study type
Description of intervention(s) / exposure
Treatment: Drugs - AVR-RD-02

Experimental: Switch Stable - study arm will include subjects who have been receiving ERT for a minimum of 24 months immediately preceding Screening, have demonstrated clinical stability during the 6 months immediately preceding Screening, and have not been treated with substrate reduction therapy (SRT) during the 24 months immediately preceding Screening (ie, switch-stable subjects). Switch-stable subjects must discontinue ERT prior to transplantation.

Experimental: treatment-naïve - will include subjects who have either never received ERT or SRT, or have not received ERT or SRT within 12 months of screening

Treatment: Drugs: AVR-RD-02
AVR-RD-02 Drug product, ( autologous CD34+ enriched hematopoietic stem cells ( HSCs) that have been genetically modified

Intervention code [1] 0 0
Treatment: Drugs
Comparator / control treatment
Control group

Primary outcome [1] 0 0
Incidence of Treatment-Emergent Adverse Events of AVR-RD-01 drug product - Number of participants with treatment-related adverse events as assessed by CTCAE v4.0".
Timepoint [1] 0 0
baseline to week 52 post gene therapy
Primary outcome [2] 0 0
Evaluate GCase enzyme activity following treatment with AVR-RD-02 investigational product. - Evaluate GCase enzyme activity in plasma and peripheral blood leukocytes in addition to the need for enzyme replacement therapy (ERT) following treatment with AVR-RD-02 investigational product.
Timepoint [2] 0 0
baseline to week 52 post gene therapy

Key inclusion criteria
Common Inclusion Criteria for all Enrolled (Switch-stable and Treatment-naïve) Subjects:

1. Subject is =16 and =35 years old and postpubertal

2. Subject has a confirmed diagnosis of Type 1 Gaucher disease based on genotyping,
deficient GCase enzyme activity (defined as =15%) in PBLs, and clinical phenotype.

a. For switch-stable subjects documentation of GCase enzyme activity (=15%) prior to
having been started on ERT is required. If GCase levels prior to ERT are not
available, trough GCase enzyme activity (=15%) is required.

Additional Inclusion Criteria for Switch-stable Subjects:

3. Subject has undergone ERT =15 U/kg and =60 U/kg every other week (or equivalent; any
combination of infusions resulting in a total monthly ERT dose of >30 U/kg and <120
U/kg) for =24 consecutive months for Gaucher disease at the time of Screening.

4. Subject has normal or near-normal hematologic values at Screening.

5. Subject has stable Gaucher disease during the 6 months immediately preceding

6. Subject has not received SRT for Gaucher disease during the 24 months immediately
preceding Screening.

Additional Inclusion Criteria for Treatment-naïve Subjects:

7. Subject has never received either ERT or SRT for Gaucher disease or has not received
either ERT or SRT for Gaucher disease within 12 months of Screening.

8. Subject has a hemoglobin level =1 g/dL below the lower limit of normal (LLN) for age
and sex at Screening and at least one of the following at Screening:

1. Platelet count <120X10/9L

2. Enlarged liver by palpation, confirmed on abdominal MRI

3. Moderate splenomegaly on abdominal MRI.
Minimum age
16 Years
Maximum age
35 Years
Both males and females
Can healthy volunteers participate?
Key exclusion criteria

9. Subject has Type 2 or 3 Gaucher disease, is suspected of having Type 3 Gaucher
disease, has severe neurological signs and symptoms, defined as complete ocular
paralysis, overt myoclonus or history of seizures, characteristic of neuronopathic
Gaucher disease, or has a tremor, peripheral neuropathy or symptoms of Parkinson's

10. Subject has any one of the following:

1. Hemoglobin value <9.0 g/dL, or

2. Platelet count <70X109/L, or

3. Spleen volume >5 X normal, or

4. Pulmonary hypertension

11. Subject has had or is scheduled to undergo a partial or total splenectomy.

12. Subject has experienced a prior anaphylactic or anaphylactoid reaction (of any
severity) to ERT.

13. Treatment-naïve subject is antibody-positive to GCase.

14. Subject has a contraindication to ERT.

15. Subject has idiopathic thrombocytopenic purpura (ITP), thrombotic thrombocytopenic
purpura (TTP), thrombocytopenia, anemia, hepatomegaly, splenomegaly, and/or
osteoporosis, unrelated to Gaucher disease.

16. Subject has active, progressive bone necrosis.

17. Subject has an active chronic infection during the Screening, Baseline, or
Pre-transplant Period of the study.

18. Subject has a prior history of (or current) cancer or precancerous lesion or has a
known genetic predisposition to cancer. The one exception is a prior history of
resected squamous cell carcinoma.

19. Subject has previously received treatment with AVR-RD-02 or any other gene therapy.

Study design
Purpose of the study
Allocation to intervention
Non-randomised trial
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Masking / blinding
Open (masking not used)
Who is / are masked / blinded?

Intervention assignment
Other design features
Phase 1/Phase 2
Type of endpoint(s)
Statistical methods / analysis

Recruitment status
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Date of last participant enrolment
Date of last data collection
Sample size
Accrual to date
Recruitment in Australia
Recruitment state(s)
Parkville, VI
Recruitment hospital [1] 0 0
Royal Melbourne Hospital - Melbourne
Recruitment postcode(s) [1] 0 0
3050 - Melbourne
Recruitment outside Australia
Country [1] 0 0
State/province [1] 0 0
Calgary Alberta

Funding & Sponsors
Primary sponsor type
Commercial sector/Industry

Ethics approval
Ethics application status

Brief summary
This is an adaptive, 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 =16 and =35 years of age
and postpubertal at Screening with a confirmed diagnosis of Type 1 Gaucher disease (based on
clinical phenotype, genotyping, and deficient GCase enzyme activity in plasma and PBLs).
Trial website
Trial related presentations / publications
Public notes

Principal investigator
Name 0 0
Birgitte Volck, MD
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
lisamarie fahy
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Summary results
For IPD and results data, please see