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Larissa Moos, Jörg Reinke, Miriam Brixius -Huth, Eugen Mengel and Gundula Staatz

Department of Pediatric Radiology / Villa Metabolica. Whole body MRI technique in early treated non- neuronopathic patients with enzyme replacement therapy at least eight years. Larissa Moos, Jörg Reinke, Miriam Brixius -Huth, Eugen Mengel and Gundula Staatz

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Larissa Moos, Jörg Reinke, Miriam Brixius -Huth, Eugen Mengel and Gundula Staatz

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  1. Department of Pediatric Radiology / Villa Metabolica Whole body MRI technique in early treated non-neuronopathic patients with enzyme replacement therapy at least eight years Larissa Moos, Jörg Reinke, Miriam Brixius-Huth, Eugen Mengel and Gundula Staatz Department ofPediatricRadiologyand Villa Metabolica Mainz Germany

  2. Introduction • 3rd EWGGD in Lemnos: • Initiation of high dose ERT followedbe individual adaptedmaintenancedosage in children ( signsof GD in preschoolage) • n=10, age: 6-10 years, ERT followup: • 6 years • 10th EWGGD in Paris • Same cohort ( + 5 pts, 1 pts lost tofollowup ) • 13 yearslater

  3. MOTIVATION Most of these Patients > 50 years What about red marrow and yellow marrow in young adults? Can we prevent bone disease ?

  4. AIM OF THE STUDY To show the outcome of early treated patients with treatment initiation before the age of 10 years after 8 – 20 years of ERT, when they become young adults.

  5. Patients • Inclusion Criteria: • Typ1 GD is confirmed, clinical relevant manifestation • Treatment initiation before the age of 10! • Treated since a minimum of 8 years • ∑ 14 patients • Age of 17- 26 years • Mainzer treatment protocol is used

  6. TRETAMENT PROTOCOL FOR ERT Maintenence: • Permanent therapytopreventdetoriationandcomplications • Advice: 15-60 IE/kg KG/14 days • Mainzer Protocol: Dosagedepends on clinicalsymptomsandincreaseofchitotriosidase! Average: 38.5 IE/kg KG/14 days Initial: • Clinical manifestionsbeforetheageof 10 years! • Advice: 60 IE/kg KG / 14 days

  7. OutcomeMeasures • Bone-marrowScores – WholebodyMRI: • Düsseldorfer Gaucher Score (DGS) • Vetebra-Disc-ratio (VDR) • BoneMarrowBurden Score (BMB) • All-domain- Score: • Sverity Score Index Type 1 (GD-S3)

  8. VDR, BMB, & DGS-Scores Source : vom Dahl S. et al. CurMed Res Opin2006;22:1045-1064

  9. DGS-SCORE Includes only lower extremities Differentiates between A-&B Pattern Bone infiltration always bilateral A maximum of 8 points can obtained Source: Poll et al. (2003)

  10. GRADUATION OF BONE-MARROW INFILTRATION • Normal: • hyperintense-signal intensity(T1-sequence)/ fine- structured • Low: • mostly hyperintense-signal intensitywith beginng of Gaucher-cell infiltration→hypointense (T1) /regular-structured • Medium: • more hypointense-signal intensity/regular structured • High: • severe hypointense-signal intensity/ inhomogenous Source: Institut für Kinderradiologie, Johannes-Gutenberg-Universität

  11. Bonecomplications 0/14 0/14 0/14 Joint destruction Osteopenia/ Osteoporosis Short stature Early beginning with ERT could prevent BONE COMPLICATIOS 0/14 Bone infarct Fracture Bone pain 0/14 0/14

  12. GD-S3 Scoring System 0/14 1/14 VAS 0/14 9-16 0/14 0/14 0/14 Source: Weinreb N, et al. Gen Med 2010;12:44–51

  13. Results • Score-classifications: • BMB-Sc.: 0-4 (mild)/ 5-8 (moderate)/ 9-16 (severe) [Range: 0-16] • DGS-Sc.: 1-6 (low)/ 7-8 (high) compared with type A & B-morphology [Range: 1-8] • VDR-Sc.: 1.9 ±0.30 (normal)/ 1.29 ± 0.31 (untreated pat.)/ 1.7. ± 0.33 (long-treated pat.)

  14. Vertebra-Disc-Ratio Untreated Patient Long-treated Patient

  15. Socialaspects 8 ptswith high schooldegree 1 pts still in high school 5ptswithjobs in officesortrades 4 ptshadthereownfamily: 7 healthy ERT-babies Nohospitalisation

  16. Conclusion • All Whole- Body-MRIs were well tolerated • NO BONE COMPLICATIONS • Typical manifestions of GD are reduced to a minimum! • Only bone marrow infiltration was observed • BMB-Score • DGS-Score LOWER LEVEL • GD-S3 Score • VDR-Score EXCEPTION: located in the spectrum of non-treated pat. • Postponed bone marrow conversion ?? Minimum effective dose ?? • Consequence: Follow-up studies

  17. Thanks Patients Larissa Moss Cooperation: Prof. G. Staatz, PediatricRadiology Mainz Team ofthe Villa metabolica

  18. References • Maas, M.; van Kuijk, C.; Stoker, J.; Hollak, C. E. M.; Akkerman, E. M.; Aerts, J. F. M. G.; den Heeten, G. J. (2003):Quantification of Bone Involvement in Gaucher Disease: MR Imaging Bone Marrow Burden Score as an Alternative to Dixon Quantitative Chemical Shift MR Imaging--Initial Experience.In: Radiology229 (2), S. 554–561. • Poll, Ludger W.; Cox, Marie-Louise; Godehardt, Erhard; Steinhof, Verena; Vom Dahl, Stephan (2011):Whole body MRI in type I Gaucher patients: Evaluation of skeletal involvement.In: Blood Cells, Molecules, and Diseases 46 (1), S. 53–59. • Weinreb, Neal J.; Cappellini, Maria D.; Cox, Timothy M.; Giannini, Edward H.; Grabowski, Gregory A.; Hwu, Wuh-Liang et al. (2009):A validated disease severity scoring system for adults with type 1 Gaucher disease.In: Genet Med12 (1), S. 44–51. • Di Rocco, M.; Giona, F.; Carubbi, F.; Linari, S.; Minichilli, F.; Brady, R. O. et al. (2008):A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease.In: Haematologica93 (8), S. 1211–1218. • http://radiopaedia.org/encyclopaedia/quizzes/all/8366 • http://www.primary-surgery.org/ps/vol2/html/sect0322.html • http://www.123rf.com/photo_11530363_human-knee-pain-running-man-skeleton-x-ray-visual-bone-health-fitness-exercise-chart-symbol.html • http://seekingalpha.com/article/175098-growth-report-for-third-quarter-2009-part-i

  19. MAINZER TREATMENT PROTOCOL

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