UPDATE on the study Genotype-phenotype correlation and resulting treatment decisions in Osteopetrosis
Long time ago Anna launched a study to register osteopetrosis patients retrospectively on behalf of ESID and the IEWP of the EBMT. Information of more than 180 patients could be included into this registry – the oldest patient being born in 1985. As a continuation of this retrospective analysis a prospective study was initiated on behalf of ESID and EBMT and supported by ERARE. Since then about 100 further patients could be recorded ending up in a total of more than 280 patients. This is a huge effort, for which we want to thank all of you very much (see a list of participating centers and the numbers of patients over time attached).
Now we think it is worthwhile to summarize and publish these results. However, many things have changed since the beginning of the data collection: new genes have been identified, new variants of the disease have been defined, and new and better transplant techniques have been introduced. Furthermore, it is certainly very important to gain recent follow up data to have a better idea of the long term outcome of the patients with and without transplantation. In addition, our primary aim to identify a possible genotype-phenotype correlation yielding in a solid basis for prognosis parameters and treatment decisions has not been reached so far, in particular for patients with intermediate forms and neurodegenerative osteopetrosis (as shown recently at the ESID meeting in Sevilla).
Therefore we would like to ask for a short update of the patients, who have already been included in the registry. Ansgar will contact the participating centers in the next weeks and send them a very short questionnaire focusing on genetics, transplant essentials and recent follow up data. We have included available data of the registry into each sheet, so that you can update or correct the information easily on an individual basis. We have also included consent forms for patients missing this essential agreement. We would be happy if you could respond to this update as soon as possible.
And please remember:
- the registry is still open and including patients, the actual questionnaires, information and consent forms can be downloaded below
- the guidelines have been updated recently and can be found inder
https://esid.org/working-parties/inborn-errors-working-party-iewp/resources/
Thank you very much again and best wishes,
Ansgar, Despina, Anna, Colin, and Cristina.
Contact information:
Ansgar Schulz [email protected]
Despina Moshous [email protected]
Anna Villa [email protected]
Colin Steward [email protected]
Cristina Sobacchi [email protected]
