Seizure registry available
for PMS families to participate
Twenty-one rare epilepsy organizations have joined forces with the Epilepsy Foundation, Research Triangle Institute, Columbia University and New York University to create the first Rare Epilepsy Network.
REN is a patient registry created to collect information about rare epilepsy patients to better understand these conditions, improve treatments and improve the lives and quality of care of patients living with them. Similar to the Phelan-McDermid Syndrome International Registry (PMSIR), the REN Registry is voluntary, anonymous and data is kept in a secure database.
Participation involves creating an account and completing 12 questionnaires, each only takes between two and 10 minutes at most. Periodically, you may be asked to update your information. The REN Registry has more detailed questions about seizures than the PMSIR does, so not only is it worth participating in both, but you can also choose to have your REN information shared with the PMSIR.
People are eligible for the REN Registry if they meet all of these criteria:
1. Have a diagnosis by a physician of a rare syndrome or disorder that is related to epilepsy or seizures (for example, has PMS)
2. Have had at least one seizure in their lifetime that was not caused by a fever or the direct result of a head injury. We call these types of seizures "unprovoked."
3. Is either at least 18 years old and can consent for themselves or a patient of any age that is not a ward of the state and has a parent or legal guardian that can consent on their behalf.
As a bonus, every Friday in September, the Epilepsy Foundation will be randomly selecting five participants who completed the REN survey since enrollment began to receive a $100 Amazon gift card.
To learn more about this research opportunity and to enroll, click here. If you have questions about how the PMSF or PMSIR are involved with the REN Registry,
Watch: PMS_Data Network webinar
Pick up some tips on collecting medical reocrds
You can watch the most recent Phelan-McDermid Syndrome Foundation webinar about the PMS_Data Network and learn tips on collecting your child's medical records. The webinar is just over half an hour long.
Watch: Developmental Synaptopathies
Learn about the upcoming clinical research study
Nearly 100 people logged on for the Phelan-McDermid Syndrome Foundation's webinar about the Developmental Synaptopathies Consortium clinical research study.
We would like to thank Dr. Alex Kolevzon of the Icahn School of Medicine at Mt. Sinai and Dr. Mustafa Sahin at Harvard Medical School for their time and insight.
If you weren't able to participate, you can watch it here. It's just over half an hour long.
The study, to be performed at six sites around the country, targets those with PMS who are 3-21 years old and have a deletion or mutation in the SHANK3 gene, which includes rings or mosaics. Assessments will take two-three days for parent reporting and medical testing at Mt. Sinai in New York; Boston Children's; Rush in Chicago; NIMH in Bethesda, Maryland; University of Texas Southwestern; and Stanford.
International families can participate, as well, Kolevzon said: "There's no exclusion." But, Sahin noted, "we can only take English-speaking patients just for the requirements of keeping everything standardized."
Making travel a bit easier will be money from the Foundation to cover some travel costs for families.
Providing funding for travel is "one of the ways the (PMS) Foundation is supporting this project," said Geraldine Bliss, PMSF Research Support Committee Chair. "We ... wanted to make sure that there wouldn't be a huge travel burden on families."
Sahin said the PMS Foundation was key to getting the consortium funded.
"I want to thank the Phelan-McDermid Syndrome Foundation for really making the grant possible for us to be able to apply," he said. "We really wouldn't have been able to get this grant funded, without (PMSF's) help, from the NIH."
GET IN TOUCH: Click here for a list of contacts at the medical
facilities that are part of the consortium.