How patients and families can help advance the research

You can get involved in the next scientific trial on the gene mutation discovered to be linked to bladder exstrophy. A larger sample size of people with bladder exstrophy is needed to help facilitate advancements in the research.

Families can get involved by giving a blood sample (2-5 ml EDTA blood). The blood sample is mandatory for the affected person in the family and optional for the parents of this person.

Furthermore, families who participate have to give their informed consent (please find attached) and they should include a copy of the last letter from their doctor describing the form of exstrophy the affected person was born with.

In the United States

Participants in the United States can have their blood drawn from their primary care physicians. Please collect above information together with the blood samples to our collaborators at the Boston Children’s Hospital.


Amelie van der Ven

c/o Prof. Friedhelm Hildebrandt, M.D.

Howard Hughes Medical Institute

Boston Children’s Hospital

Division of Nephrology

300 Longwood Avenue

HU319, Boston, MA 02115, USA

Phone: +1 617-355-6129


Outside the United States

If you participate from outside the US, please send all information and blood samples to Heiko Reutter, M.D.


Institute of Human Genetics

University Hospital Bonn

Sigmund-Freud Str. 25

D-53127 Bonn, Germany

Tel.: +49 (0) 1515 8233 103

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