TESS Research Foundation has created a SLC13A5 Deficiency patient registry. This registry is an important tool to help researchers gain a better understanding of SLC13A5 Deficiency and enables the development of more effective treatment options. If you or your child (living or deceased) has been diagnosed with SLC13A5 Deficiency, your participation helps us better understand the disorder, develop treatments, and organize clinical trials. If you have any questions, please contact Kim Nye at (650) 521-2279 or at [email protected].
If you are interested in participating in the registry, please click on the button below.
IMPORTANT: If you have more than one child with this disorder, please fill out a new questionnaire for each affected child. To do so, please return to this page after submitting the questionnaire for your first child and re-click the registry button. A new, blank questionnaire should open, which you can fill out for your second child.
Researchers have found that some children with SLC13A5 Deficiency have increased levels of citrate in their blood and Cerebrospinal Fluid (CSF). To establish the level of citrate as a diagnostic biomarker for SLC13A5 Deficiency, they need to study citrate levels in more children with this disorder and their heterozygous carrier parents. You can give your valuable contribution to this study, which might make the diagnosis for SLC13A5 Deficiency cheaper and faster and also open new avenues for treatment. To participate, please take the citrate test form to your doctor and get the citrate levels tested for your children and yourself.
A bio-bank or a repository is a bank that collects and stores biological samples like blood, tissues (skin biopsies), cells (IPSCs) or DNA from patients and their families and distributes them to scientists for use in research. Bio-banks are especially beneficial for rare disease communities like ours as it provides a central resource of patient samples accessible to all the researchers who are interested in studying our disease and brings our children closer to the possibility of a cure. You can participate in this bio-bank by donating your child’s and your samples like blood or skin biopsies and give your valuable contribution in understanding SLC13A5 Deficiency and finding treatment options for our children suffering with this disease.
What do we do if we receive a positive diagnosis for SLC13A5?
At this time, there are no specific treatments that cure the disease. Treating seizures in children with Citrate Transporter Disorder has proven difficult in some patients. Please speak with a neurologist about treatment options for your child. We have found that several patients have done slightly better with Acetazolamide but would like to hear if anyone else has had any improvement with Acetazolamide or if any other treatments have been helpful. We want to hear your stories in the hope that by sharing information, we can more quickly advance treatment and cure.
Ways to Connect With our SLC13A5 Community
- Our team is here to help. Contact Kim by phone (650-521-2279) or by email.
- Join our family directory, which is available in many languages: English, Francais, Nederlands, & Deutsche.
- Share information with other families by joining our private Facebook group. Please note that any medical information shared with this group is not protected by HIPAA or any other medical privacy laws.
- Follow our public Facebook page and our Instagram for updates.
- Tell your story on our Family Stories Page.