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Evaluation Of Type 1 Gaucher Disease Patients Treated Ith Imiglucerase
1. EVOLUTION OF TYPE 1
GAUCHER DISEASE PATIENTS
TREATED WITH
IMIGLUCERASE
Paula Grigorescu-Sido1) , Camelia Al-Khzouz 1) ,
Cristina Drugan 2), Simona Bucerzan 1) , Cristina Coldea 1)
1)Genetic Diseases Center –Emergency Children Hospital , First Pediatric Clinic Cluj
2) Biochemistry Department of University of Medicine and Pharmacy “Iuliu Hatieganu” Cluj
6. Multisystemic pattern
Monocytes
Bone Spleen
Marrow
Macrophages
Tissue
Macrophages
Liver Lung
Bone
Kupffer Cells
(Hepatocytes Spared) Alveolar
Osteoclasts Macrophages
7. Epidemiology:
- panethnical pattern: 1/40.0001)
1/50.0002)
1/200.0003)
1/100.0004)
- Ashkenazi jews: - 1/500 - 1/1.000 n.b. alive
- 25-30.000 patients all over the world
- 4.272 - Gaucher Registry 2005
- ≈ 3/4 - on enzyme
therapy
- Meha A Eur J Inte Med,2006,17:S2- 5
- Germain D.P. Hématologie 1999, 5: 480-493
3)
Grabowski G.A. Gaucher Disease: diagnosis, evaluation and treatment. Gardiner-Caldwell Syner-Med, New Jersey 1994
3)
Stirnemann J. et al. La maladie de Gaucher; Encyclopedie Orphanet, 2004
8. Clinical features in type 1 Gaucher disease
Organ enlargement - splenomegaly
- hepatomegaly
Hematological findings: - trombocytopenia
- anemia
- leucopenia
Osteopathy: - pain chronic
acute - “bone crisis”
- fractures
-bone deformities
Chronic respiratory failure.
Growth retardation and puberty delay1) (♀)
9. Enzyme replacement therapy
Preparations Obtaining Trade name Pharmaceutical
method company
Alglucerase’) Extracted from Ceredase Genzyme
studys:1970-1982)**) placenta
(FDA:1991)
(risk – prionic
disease ?)
Imiglucerase’) recombinant Cerezyme Genzyme
(FDA:1994) DNA technology vials
of 200 UI*)
400 UI
*)
changed inorder to expose manosic residures of lateral oligosaccharidic chains → binding to manoso-P receptors on the cell
membranes of macrophages → “targeted” enzyme therapy! R.O.Brady National Institutes of Health, Peter Pentchev –
10. In Romania
- specific diagnosis ..................................1997
- enzyme replacement therapy ………....2002 (sporadically)
....2004
Genetic Diseases Center –Emergency Children Clinical Hospital, First
Pediatric Clinic Cluj –
Biochemistry Department of University of Medicine and Pharmacy “Iuliu
Hatieganu”Cluj (Conf.Dr.Cristina Drugan)
11. Aim of the study
• Assessment of clinical outcome in Gaucher
patients with enzyme replacement therapy
12. Matherial:
- 32/50 type 1 Gaucher patients who received ERT
(22 females and 10 males)
age 28,4+/-12,1 ys
20. • Bone disease :
1) Clinically: At onset At present
Chronic pain: 30 patients (96,8%) significantly improved
21 patients (66,6%)
Bone crises: 6 patients -2 patients
Fractures: 4 patients 1 patient (Male)
( after 6 years ERT)
+
1 patient ( Female)
(after 4 years ert)
21. Assessment of bone mineral density according to
lumbar column Z score (DXA)
(n=20 patients)
100%
65%
80%
60%
40% 35% 35%
30%
20% 6p 7p 7p
0%
Improvement Stationary Aggravation
- Cerezyme 30U/kg ... 6p
- climax .......................1p
- late start of the ERT
24. Cerezyme treatment in assessed Gaucher patients:
- clinical improvement since the first year of ERT
- 4 female patients ...................... 5 healhty children
- no side effects
- quality of life improved notably
25. Imigluceraza (Cerezyme) –
- extraordinary chance for Gaucher patients
early specific diagnoses
early start of enzyme replacement therapy