NEWS

We are pleased to announce that we have opened sites in Barcelona, Spain and Oslo and Gottingen, Germany for patients to participate in the SSADH Natural History Study.

Patients willing to participate in the SSADH Natural History Study from Spain should get in touch with Dr. Natalia Juliá (Neurologist) who will schedule your appointment.  This is her email address:

njulia@sjdhospitalbarcelona.org

Additionally we received approval for two additional sites in Oslo and Gottingen, Germany besides the  Heidelberg location.  Those interested from Germany should get in touch with Dr. Kathrin Jeltsch by email at:

Kathrin.Jeltsch@med.uni-heidelberg.de

Additionally, we are waiting for Internal Review Board approval to open a site with Dr. Alison Berry at the Birmingham Woman’s and Children’s hospital in the United Kingdom.

We have reached the maximum number of patients that we need to visit Boston Children’s Hospital in the United States for the Natural History Study. 

This is the process that we are asking patients and families to commit to from outside of the US:

1) Provide information to positively confirm the patient’s diagnosis of SSADH Deficiency. 

2) Electronically consent or agree in writing to participate in the SSADH Natural History Study and the SSADH Biorepository. 

3) An appointment will be scheduled to review the patients’ medical history and obtain any prior medical records that will help show how SSADH has affected your patient. 

4) At the appointment there will be a physical exam, neurophysiological testing, and a collection of blood, urine, saliva, hair, stool, and a skin biopsy if tolerated.  Over the five years of the study there will only be one skin biopsy.

Once the initial appointment is complete, you will be asked to make yearly visits and update the neurophysiological testing electronically every 6 months for five years.

Additionally, if you are unable to make the international site visits we are asking patients who will just report on their medical history for five years as they visit their primary medical care providers. 

Those patients should get in touch with Study Coordinator:  Dr. Melissa DiBacco by email at:
Melissa.Dibacco@childrens.harvard.edu


If you have any questions please contact Carolyn Hoffman by email at: choffmanwi@aol.com