retrospective and prospective observational study of mri changes in bone and visceral lesions of patients with type 1 gaucher disease treated with vpriv® (velaglucerase alfa)

Conditions: Gaucher Disease, Type 1; MRI

Summary: this study with standardized reading mris, will provide for the first time objective and quantified data on organomegaly (liver and spleen volumes) as well as bone alteration (bone marrow burden11) of french patients treated with vpriv®. these data will help to better assess the impact of this treatment on these parameters. the result of this study will also answer in part to the request of the french transparency commission (ct: commission de transparence) of the french national health authority to provide them with data of french patients treated with vpriv®.

all data entered will be used for analysis purposes and results will be submitted to inform regulatory agencies. patient care and management is freely determined by the participating physician, in the framework of an observational study reflecting the daily medical practice. the clinical data, the results of routine clinical and laboratory testing that are part of standard medical care for patients with gaucher disease will be collected from the medical record of the patient : * socio-demographic characteristics * history of the disease and context of diagnosis * medical background * mri: abdominal and bone, as defined below * clinical data available in the range from 3 months before or after each mri * biological data available in the range from 3 months before or after each mri * treatment with vpriv® (velaglucerase alfa), including the doses and regimens. the mri images collected during the study: the mris performed in the patient's usual medical follow-up for its gaucher disease (abdominal mri (liver and spleen) and bone mri (back injury pelvis, lower limbs) and / or whole-body mri) will be collected. among the mris available in the patient's medical records, mris will be collected as following: * reference mri: mri closest to the date of initiation of vpriv® in the five years preceding the start of treatment or within three months after initiation of vpriv®. * mris of the retrospective phase of the study: all mris available between the reference mri and the inclusion date of the patient. * mris of the prospective phase of the study: all the mris that will be realized during the prospective phase of the study, that is to say during the year following the date patient inclusion in the study second reading of the mri the collected mris will be subject to a second reading, which will be conducted centrally by a medical image processing center (bioclinica). this second reading of mris will particularly provide quantitative data not available initially in the patient records, such as bone marrow burden (bmb) score at the lumbar spine and femur, and liver and spleen volumes. in case the second reading provides additional data to the first reading, as any new comments or discordant diagnosis, the investigating doctor will integrate these data as soon as he has knowledge of them in the medical care of the patient. mri collection and transmission except the data from the second reading of mris by bioclinica, all data defined above, will be collected in the case report of the study, from the patient's medical record. for the second centralized reading of the mris, the mris will be transmitted as follows: the investigation center will make a copy on compact disc - read only memory (cd-rom) of each mri collected for the study needs, and will replace the identity the patient by an identification number whose correspondence with the patient's identity is only known by the investigation center. this patient identification number will be predefined and attributed to the patient's mri when the patient is included in the study. copies of mris and coded will be sent securely at bioclinica center for analysis. in case of connection failure from the participating centers, mri scans will be sent by post. data from this second reading by bioclinica will be retrieved for analysis. the results of the second reading by bioclinica will be forwarded to investigation center, which will include them in the patient's record.

Eligibility criteria:
inclusion criteria: 1. patients of any age or gender with confirmed diagnosis of type 1 gaucher disease, 2. patients treated with vpriv® at the beginning of the study. prior starting vpriv® patients could be either treatment naïve or previously treated with any other gaucher treatment than vpriv® 3. patients should have one mri data in the 5 previous years before starting vpriv® treatment (up to 3 months after initiation of vpriv® 4. informed written consent obtained from the patient, and/or patient's parent(s), and/or legal representative. assent, if old enough to grant, will be obtained from all patients under the age of 18 years exclusion criteria: 1. patients for whom mri is contra-indicated 2. patients who did not had an mri during the five years prior to the initiation of treatment with vpriv® or within three months after initiation of vpriv®. 3. patients included in an ongoing clinical trial where the product is blinded