A current study on the genotype-phenotype correlation and resulting treatment decisions in Osteopetrosis.
Dear colleagues and friends,
as you know, there has been some progress in diagnosis and treatment of infantile osteopetrosis: the genetic basis has been identified in almost all cases and curative treatment by allogeneic stem cell transplantation can be performed with increasing success even in the absence of an HLA-matched donor. However, the natural course of the disease seems to be rather heterogeneous - some patients get severe complications of the disease as amaurosis, BM failure or neurologic defects early in infancy, some patients survive with rather good quality of life until adulthood. On the other site, the transplantation course in osteopetrosis may be complicated by life threatening side effects as rejection and graft failure, pulmonary hypertension and VOD.
To get an actual overview of the outcome of osteopetrotic patients, we would like to ask for your assistance and to join our study. Our aim is to identify a possible genotype-phenotype correlation yielding in a solid basis for prognosis parameters and treatment decisions. Would it be possible to answer the questions of the attending clinical data form for your patients with osteopetrosis? The progress of data acquisition will be announced in the ESID newsletter (working party reports of the Genetic Working Party) and published elsewhere with all contributing centres as authors.
We would be very happy to get a positive answer and we are eager to receive your comments and opinion.
Please send your comments and questionnaire to: anna.villa@itb.cnr.it
Best wishes,
Anna Villa , Wilhelm Friedrich , Ansgar Schulz
Questionnaire Osteopetrosis (39k)This is the questionnaire for the study on Osteopetrosis. Please send completed questionnaires to anna.villa@itb.cnr.it
