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COVID-19

Dear SDS patients,

due to the current  COVID-19 pandemic and the disturbing news in the media, many questions from our patients regarding particular risks for a severe course of the disease due to the pre-existing neutropenia reach us.

Unfortunately, there is no reliable data available yet. We know from the numerous other viral diseases that patients with isolated neutropenia have no increased risk of contracting a viral infection, because the virus defense function is normal.

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SDS

The Shwachman-Diamond Syndrome (SDS), first described in 1964 by the British ophthalmologist M. Bodian (Bodian et al.; 1964) and the US physician H. Shwachman and pediatrician L. Diamond (Shwachman et al.; 1964), is a rare inherited/congenital disease that is classically associated with an exocrine pancreatic insufficiency, a bone marrow failure and in an impaired growth (skeletal malformation). Beneath that SDS can also affect other organs e.g, the skin, liver, heart, immune system and the central nervous system.

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About the SDSR-EU

The Shwachman Diamond Syndrome Registry Europe has been newly established in 2020 to set up a registry specifically adapted to the broad spectrum of SDS clinical aspects. It shall help to improve knowledge on SDS withcountry overview of registered patients respect to diagnosis, clinical treatments, long term prognosis, assessment of quality of life and risk evaluation of MDS/AML and stem cell transplantation. In addition, it should expand the SDS network and harmonize data management in close cooperation with patient organizations. The initiation of a SDS Registry, separated from the SCNIR (Severe Chronic Neutropenia International Registry), is funded by a grant from the “Sanitätsrat Dr. Emil Alexander Huebner und Gemahlin”- Foundation to take the complexity of SDS into account.

The SDSR-EU monitors the clinical course, treatment and disease outcomes in patients with SDS independent from treatment. Thereby, the registry collects both general and specific clinical information, e.g. on pregnancy, quality of life, malignant transformation, bone marrow transplantation and their outcome after consent of the patients. The data is routinely analyzed and new information is published in peer reviewed journals to inform treating physicians about new findings. Supplementing the database on SDS, biological material like blood or bone marrow samples and smears of SDS patients are collected, tested for genetic abnormalties and stored in the cell bank of the SDSR-EU that may be used for specific relevant research projects on Shwachman-Diamond Syndrome. The SDSR-EU manages patient data in accordance with the applicable data protection regulations, in particular the General Data Protection Regulation (GDPR) of 25th May 2018.

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Genetic Testing

Genetic testing for SDS is performed at the University Hospital Tübingen (Germany), in the lab of Prof. Dr. Julia Skokowa. Genetic testings are analysed in cooperation with the Institute for Human Genetics lead by Prof. Dr. Olaf Rieß at University Hospital Tübingen. In Tübingen we provide single gene, whole exome or whole genome analyses. For the routine screening for secondary leukemias in SDS patients, analyses for aquired mutations in the gene of the TP53 protein (TP53) are performed in the lab of the SCNIR lead by Prof. Dr. Julia Skokowa.

Please use the corresponding forms for sending samples to Tübingen. You can access and download the forms as PDF in the download area of our site.

Research laboratory

Basic research and diagnostics on Shwachman-Diamond Syndrome and severe chronic neutropenia are performed in the Department of Molecular Hematopoiesis. A special focus is the study of molecular causes of the subgroups of congenital neutropenia.

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Team

  • Clinical contact
  • Data Management
  • Scientific assistant

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