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)

CEN Biotech20 enrolled

Overview

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

Sex: ALL

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

The change over time between the baseline MRI and the follow-up MRIs, of the BMB score weighted at T1 measured at the femur.

To describe changes in bone disease in femur in Gaucher's disease patients treated with Velaglucerase alfa measured by MRI. The primary endpoint is the change over time between the baseline MRI and the follow-up MRIs, of the BMB score weighted at T1 measured at the femur.

Time frame: 2 YEARS

The change over time between the baseline MRI and the follow-up MRIs, of the BMB score weighted at T2 measured at the femur.

Time frame: 2 YEARS

The change over time between the baseline MRI and the follow-up MRIs, of the BMB score weighted at T1 measured at the lumbar spine.

To describe changes in bone disease in lumbar spine in Gaucher's disease patients treated with Velaglucerase alfa measured by MRI. The primary endpoint is the change over time between the baseline MRI and the follow-up MRIs, of the BMB score weighted at T1 measured at the lumbar spine.

Time frame: 2 YEARS

The change over time between the baseline MRI and the follow-up MRIs, of the BMB score weighted at T2 measured at the lumbar spine.

Time frame: 2 YEARS

Secondary Outcomes

Describe socio-demographic characteristics of patients : age

To describe the socio-demographic of patients : age

Time frame: 2 YEARS

Describe socio-demographic characteristics of patients : sex

To describe the socio-demographic of patients : sex

Time frame: 2 YEARS

Describe socio-demographic characteristics of patients : occupation

To describe the socio-demographic of patients : occupation

Time frame: 2 YEARS

Clinical evolution of patients :weight (kg)

To describe the clinical evolution of patients : weight (kg)

Time frame: 2 YEARS

Clinical evolution of patients : height (cm)

To describe the clinical evolution of patients : height (cm)

Time frame: 2 YEARS

Clinical evolution of patients : absence or presence (mild, moderate or severe) asthenia

To describe the clinical evolution of patients : absence or presence (mild, moderate or severe) asthenia

Time frame: 2 YEARS

Clinical evolution of patients : abdominal pain

To describe the clinical evolution of patients : abdominal pain

Time frame: 2 YEARS

Clinical evolution of patients : chronic bone pain

To describe the clinical evolution of patients : chronic bone pain

Time frame: 2 YEARS

Clinical evolution of patients : bone crises

To describe the clinical evolution of patients : bone crises

Time frame: 2 YEARS

Clinical evolution of patients : bleeding and hemorrhagic syndrome

To describe the clinical evolution of patients : bleeding and hemorrhagic syndrome

Time frame: 2 YEARS

Clinical evolution of patients : pulmonary impairment

To describe the clinical evolution of patients : pulmonary impairment

Time frame: 2 YEARS

Clinical evolution of patients : neurological impairment

To describe the clinical evolution of patients : neurological impairment

Time frame: 2 YEARS

Clinical evolution of patient : absence or presence of hepatomegaly

To describe the clinical evolution of patients : absence or presence of hepatomegaly, with the extent of the arrow (medio-clavicular line) (cm)

Time frame: 2 YEARS

Clinical evolution of patients : absence or presence of splenomegaly

To describe the clinical evolution of patients : absence or presence of splenomegaly, with the extent of the costal overhang (cm)

Time frame: 2 YEARS

Evolution of the parameters measured by MRI : Bone alterations

To describe the evolution of the parameters measured by MRI : bone alterations (spine, pelvis, femurs, tibias and other symptomatic localization). Absence or presence of bone lesions and their locations: bone infiltration, cortical thinning, osteonecrosis, bone infarction, stroke sequelae, vertebral compression, fracture or other bone disease. If possible, compare the evolution of MRI parameters between treatment-naive patients and patients previously treated with another specific treatment for Gaucher disease at the baseline MRI.

Time frame: 2 YEARS

Evolution of the parameters measured by MRI : Liver evaluation : absence or presence of hepatomegaly with the extent of the arrow (medio-clavicular line) (cm).

To describe the evolution of the parameters measured by MRI : Visceral involvement : Liver evaluation criteria MRI : absence or presence of hepatomegaly, with the extent of the arrow (medio-clavicular line) (cm). If possible, compare the evolution of this MRI parameters between treatment-naive patients and patients previously treated with another specific treatment for Gaucher disease at the baseline MRI.

Time frame: 2 YEARS

Evolution of the parameters measured by MRI : Liver evaluation : evolution of the liver volume (m3).

To describe the evolution of the parameters measured by MRI : Liver evaluation criteria MRI : evolution of the liver volume (m3). If possible, compare the evolution of this MRI parameters between treatment-naive patients and patients previously treated with another specific treatment for Gaucher disease at the baseline MRI.

Time frame: 2 YEARS

Evolution of the parameters measured by MRI : Spleen evaluation : absence or presence of splenomegaly

To describe the evolution of the parameters measured by MRI : Spleen evaluation MRI : absence or presence of splenomegaly. If possible, compare the evolution of this MRI parameters between treatment-naive patients and patients previously treated with another specific treatment for Gaucher disease at the baseline MRI.

Time frame: 2 YEARS

Evolution of the parameters measured by MRI : Spleen evaluation : evolution of the extent of the costal overhang (cm)

To describe the evolution of the parameters measured by MRI : Spleen evaluation MRI : evolution of the extent of the costal overhang (cm). If possible, compare the evolution of this MRI parameters between treatment-naive patients and patients previously treated with another specific treatment for Gaucher disease at the baseline MRI.

Time frame: 2 YEARS

Evolution of the parameters measured by MRI : Spleen evaluation : absence or presence of splenomegaly.

Time frame: 2 YEARS

Evolution of the parameters measured by MRI : Spleen evaluation : evolution of the spleen volume (m3)

To describe the evolution of the parameters measured by MRI : Spleen evaluation MRI : evolution of the spleen volume (m3). If possible, compare the evolution of this MRI parameters between treatment-naive patients and patients previously treated with another specific treatment for Gaucher disease at the baseline MRI.

Time frame: 2 YEARS

Evolution of the parameters measured by MRI : Presence or absence of myocardia alterations

To describe the evolution of the parameters measured by MRI : Presence or absence of myocardial, nodules, fibrosis, vesicular stones or other alterations. If possible, compare the evolution of MRI parameters between treatment-naive patients and patients previously treated with another specific treatment for Gaucher disease at the baseline MRI.

Time frame: 2 YEARS

Evolution of Biological parameters : hemoglobin (g/dl)

To describe the evolution of biological parameters : hemoglobin (g/dl)

Time frame: 2 YEARS

Evolution of Biological parameters : leukocytes (cells/mm3)

To describe the evolution of biological parameters : leukocytes (cells/mm3)

Time frame: 2 YEARS

Evolution of Biological parameters : platelets (mm3)

To describe the evolution of biological parameters : platelets (mm3)

Time frame: 2 YEARS

Evolution of Biological parameters : Angiotensin Converting Enzyme (ACE) (U/l)

To describe the evolution of biological parameters : ACE (angiotensin converting enzyme (U/l)

Time frame: 2 YEARS

Evolution of Biological parameters: ferritin (mg/l)

To describe the evolution of biological parameters : ferritin (mg/l)

Time frame: 2 YEARS

Evolution of Biological parameters : chitotriosidase (nmol/h/ml)

To describe the evolution of biological parameters : chitotriosidase (nmol/h/ml)

Time frame: 2 YEARS

Evolution of Biological parameters : CCL18 (ng/ml)

To describe the evolution of biological parameters : CCL18 (ng/ml)

Time frame: 2 YEARS

Evolution of Biological parameters : vitamin D (nmol/L)

To describe the evolution of biological parameters : vitamin D (nmol/L)

Time frame: 2 YEARS

Evolution of Biological parameters : vitamin B12 (pmol/l)

To describe the evolution of biological parameters : vitamin B12 (pmol/l)

Time frame: 2 YEARS

Evolution of Biological parameters : serum glutamate oxaloacetate transaminase (SGOT) (U/l)

To describe the evolution of biological parameters : SGOT (U/l)

Time frame: 2 YEARS

Evolution of Biological parameters : Aspartate aminotransferase (AST) (U/l)

To describe the evolution of biological parameters : AST (U/l)

Time frame: 2 YEARS

Evolution of Biological parameters : serum glutamate pyruvate transaminase (SGPT) (U/l)

To describe the evolution of biological parameters : SGPT (U/l)

Time frame: 2 YEARS

Evolution of Biological parameters : Alanine Aminotransferase (ALT) (U/l)

To describe the evolution of biological parameters : ALT (U/l)

Time frame: 2 YEARS

Evolution of Biological parameters : Gamma-glutamyltransferase (GGT) (U/l)

To describe the evolution of biological parameters : GGT (U/l)

Time frame: 2 YEARS

Evolution of Biological parameters : alkaline phosphatase (U/l)

To describe the evolution of biological parameters : alkaline phosphatase (U/l)

Time frame: 2 YEARS

Evolution of Biological parameters : triglycerides (mmol/l)

To describe the evolution of biological parameters : triglycerides (mmol/l)

Time frame: 2 YEARS

Evolution of Biological parameters : total cholesterol (mmol/l)

To describe the evolution of biological parameters : total cholesterol (mmol/l)

Time frame: 2 YEARS

Evolution of Biological parameters : gamma globulin (g/l)

To describe the evolution of biological parameters : gamma globulin (g/l).

Time frame: 2 YEARS

Evolution of Biological parameters : serum calcium (mmol/l)

To describe the evolution of biological parameters : serum calcium (mmol/l)

Time frame: 2 YEARS

Evolution of Biological parameters : presence or absence of a monoclonal peak and the type if any.

To describe the evolution of biological parameters : presence or absence of a monoclonal peak and the type if any.

Time frame: 2 YEARS

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)

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes