Stem cell transplantation for A-T

Research Project information

Principal Researcher: Dr Ralf Schubert
Institute: Goethe University Frankfurt, Germany
Cost: 
€119,450 over 24 months
Start Date: 
June 2015

This project aims to investigate the potential of bone marrow transplantation in children with A-T.
Stem cell transplantation, using purified bone marrow cells could help children with A-T. It is a
complicated process and chemotherapy is needed before this procedure can be carried out to prepare
the body for transplantation. However this is risky and particularly difficult to carry out in A-T patients
as they are already more susceptible to infections. There can be serious complications and in some
cases, the transplanted cells recognise the recipient’s cells as “foreign” and try to attack them.

The researchers aim to further investigate the use of a reduced-intensity course of chemotherapy in
conjunction with stem cell transplantation for A-T. Dr Ralf Schubert will lead the team at Goethe
University Frankfurt, which includes Professor Stefan Zielen. They will also look at optimising long-term
survival of patients.

Transplantation of purified bone marrow cells, or stem cell transplantation, offers a potential cure for
cancer, severe immunodeficiency and some genetic diseases. This project aims to investigate and
optimise reduced-intensity courses of chemotherapy using different approaches for stem cell
transplantation in mouse models of A-T. After this research is complete, the team plan to go on to
conduct small clinical studies to establish the effects of stem cell transplantation in children with A-T.
Their ultimate goal is to develop a safe method to carry out this procedure in A-T patients. It is hoped
that bone marrow transplantation could be a treatment to prolong life and potentially even cure
children affected by A-T in the future.

This research project is funded in partnership with Sparks Children’s’ charity.


Interview with Dr Ralf Schubert

ralf-schubert

1. Who Am I? – My name is Ralf Schubert. I am a biologist at the Department for Children and Adolescence, Goethe University Frankfurt and the head of the Pneumological/Immunological Laboratory, working on the analysis of molecular and cellular events involved in the pathogenesis of chronic lung disease (e.g., asthma, allergy, ataxia telangiectasia, cystic fibrosis, and bronchiolitis obliterans).
2. Describe yourself in 3 words – Reliable, communicative and focused
3. What made you want to research A-T? – I have been working on the analysis of molecular and cellular events involved in the pathogenesis of Ataxia Telangiectasia (A-T) for more than 15 years. On the one hand it is fascinating to conduct research on ATM as a gatekeeper of genomic integrity and a key protein in that many pathways of the cellular signaling. But this is only the scientific side. On the other hand, when I started my career in the children’s hospital in Frankfurt working on the immunodeficiency in A-T I met a number of young patients. I followed their disease progression and sadly many of them died in their early years. So whenever I’m planning a research study I have the children that are suffering with A-T in my mind. I think this my primary drive to work on this awful disease.
4. Most challenging part of being a researcher? – The most challenging part of being a researcher is always to acquire new funding for my research projects to ensure that our research is constantly in progress.
5. How is your Action for A-T funded research project going? – Our Action for A-T funded research project is going well and we will have first results soon.
6. What area of research do you think holds most promise to improve the lives of those with A-T? – A-T is a pleiotropic disorder with multiple facets, therefore it is hard to say what area of research is the most promising. Lung failure partially caused by the immunodeficiency as well as leukemia and lymphoma are the main causes for morbidity and mortality in A-T. Regarding the fact that stem cell therapy (SCT) has been successfully carried out in other genetic instability syndromes (e.g. Fanconi anaemia, Nijmegen Breakage syndrome) for years, and taking the research in this field into account, it seems to be an encouraging opportunity for a curative therapy to restore immunity and prevent the development of hematologic malignancies. Of course, there is still a lot of work to do to develop a safe transplantation strategy for the patients.