As part of our mission, Dup15q Alliance seeks to unite families, researchers, and professionals; and promote research, awareness, and understanding of chromosome 15q11.2-13.1 duplication syndrome and related disorders. Dup15q Alliance formally endorses and funds research and collaborates with researchers interested in research on chromosome 15q duplications by disseminating research information and promoting opportunities for Dup15q Alliance families to participate in research studies.
The Dup15q Alliance is determined to make 2019 the year that we take our family and patient involvement to the next level. We NEED to find better treatments for all of the symptoms of dup15q syndrome. We NEED to know how those with dup15q syndrome develop over time. We NEED to know why some children affected by dup15q syndrome have seizures and some don’t. We NEED to emphasize the importance of research. Direct patient and family research is critical to meet these needs, identify other needs, get better treatments and make positive changes to the lives of all those affected by dup15q syndrome. We may be rare but we are not small. We have several opportunities as a powerful community to drive our researchers to do better. The more we participate, the more they hear us and our outcry for answers.
We are collecting data and tracking the development and care of families affected by dup15q, including diagnostics, medications, how meds are working, how other treatments are working, getting full picture of dup15q syndrome.
We are piloting a program where families can upload their clinical EEGs and/or MRIs to keep on file. This service will serve as a central location where you can store your information for future use, such as sending them to specialists, second opinions etc. The ultimate goal will be to look at EEGs over time and see if we can pinpoint early markers for seizure risk or brain function changes that are related to behavior.
Don’t have a copy of your child EEG or MRI? Here is a sample letter/email to send to your doctors office to obtain copies for research.
Ovid Antiepileptic Drug Trial
We are extremely proud to partner with Ovid for our first drug trial of a new antiepileptic compound. Ovid is recruiting children affected by dup15q syndrome ages 2-35 with at least 3 seizures per month and are on anti-epileptic medications that are not giving seizure freedom. There are multiple locations where the trial is taking place to ease the burden of travel. All expenses related to the trial are covered. Only 15 spaces are available to persons with dup15q syndrome.