Gaucher Disease, Type 1
Conditions
Brief summary
The objective of this study is to assess Elelyso treatment on bone disease in Gaucher patients currently treated with other enzyme replacement therapy. Experience from early access program (2009-2012) has suggested that some patients who have been stable on imiglucerase have shown poor scores of QCSI with Fat Fraction below the cut off point of 0.23 which is considered bone at risk, and have demonstrated remarkable improvement upon switching to Elelyso, including particularly 2 patients who did not have any change in dose or any drug interruption prior to the switch. These findings may be explained by the better glycan structure of imiglucerase (see Tekoah et al, 2013). The fact that in many patients prevention of bony complications is the main indication for ERT highlights the importance of this study, as all clinical trials of all ERTS heretofore did not include the bones as primary or secondary end-points but only as exploratory, and as such had only limited value,
Detailed description
Open-label study in patients with Gaucher disease currently treated with commercial ERTs. Eligible patients will receive intravenous (IV) infusions of Elelyso every two weeks. The infusions will be administered at the selected medical center or in the home care setup. The dose of Elelyso will be the same dose of the other ERTs . Bone parameters QCSI and BMD will be assessed at baseline, 12 months and 24 months. The intention is to open 3 more sites in Israel thereby making this IIR a multi center national trial
Interventions
PROCEDUREquantitative chemical shift imaging (QCSI)
Poor scores of QCSI with Fat Fraction below the cut off point of 0.3 which is considered bone at risk
DRUGElelyso
intravenous (IV) infusions of Elelyso
Sponsors
Pfizer
Shaare Zedek Medical Center
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
The objective of this study is to assess Elelyso treatment on bone disease in Gaucher patients currently treated with other enzyme replacement therapy
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* GD patients, male and female, 18 years or older * Currently treated with enzyme replacement therapy for 5 years and more, with a stable unchanged dose in the previous 6 months * Imaging features of significant residual bone disease defined as QCSI under 0.3 bone at risk * Able to provide written informed consent
Exclusion criteria
* Currently taking another experimental drug for any condition * Presence of any medical, emotional, behavioral or psychological condition that in the judgment of the Investigator would interfere with the patient's compliance with the requirements of the study. * Past exposure to Elelyso
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| QCSI results at 12 months, Fat fraction under 0.3. | 12 months | Improvement of QCSI results in patients with Gaucher disease currently treated with commercial ERTs. Eligible patients will receive intravenous (IV) infusions of Elelyso every two weeks. The infusions will be administered at the selected medical center or in the home care setup. The dose of Elelyso will be the same dose of the other ERTs . Bone parameters QCSI and BMD will be assessed at 12 months. |
| QCSI results at 24 months, Fat fraction under 0.3. | 24 months | Improvement of QCSI results in patients with Gaucher disease currently treated with commercial ERTs. Eligible patients will receive intravenous (IV) infusions of Elelyso every two weeks. The infusions will be administered at the selected medical center or in the home care setup. The dose of Elelyso will be the same dose of the other ERTs . Bone parameters QCSI and BMD will be assessed at 24 months. |
Outcome results
None listed