We have the maximum number of patients that we need to visit Boston Children’s Hospital for the Natural History Study. We are now working on getting families to register for the international portion of the Natural History Study. That side of the study is less involved. We are working with Prof. Dr. Thomas Opladen and Dr. Kathrin Jeltsch from Heidelberg, Germany.
We are also hopefull to open 2 international study sites in Spain: Barcelona with Dr. Àngeles Garcia Cazorla and Badlona with Dr. Elisenda Cortés Saladelafont.
This is the process that we are asking patients and families to committment to:
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 for 7 patients who will just report on their medical history for five years as they visit their primary medical care providers.
If you have any questions please contact Carolyn Hoffman by email at: firstname.lastname@example.org