RAISING FOR RESEARCH

Phelan-McDermid Syndrome

May 1 - 5, 2023

Join us as we raise funds to support urgent projects for those affected
by this debilitating neurodevelopmental disorder.

Which Project Will You Support?

100% of your donation will be directed to a research project.

Fund the Future

Help us raise $100,000 this week for the three vital projects described below. Here’s our progress to date:

May 1 -5, 2023

Our first annual FUN-raiser is just the beginning of accelerating critical treatment options for our loved ones who suffer from Phelan-McDermid syndrome and related SHANKopathies.

Your Donation Makes a Difference

100% of your donation will be directed to a research project.

Support vital research that will provide a brighter future for those affected by Phelan-McDermid syndrome.

Epilepsy

Epilepsy hangs heavily over the Phelan-McDermid syndrome community; seizures are experienced by a majority of its members. The CureSHANK Epilepsy Research Grant ($125,000) will be awarded to researchers with the most promising proposal for studying the causal connection between seizures and deletions/variants of the SHANK3 gene.

Nearly two-thirds of individuals living with Phelan-McDermid syndrome will begin to experience seizures by adulthood. For some, their epilepsy is not well controlled by current pharmaceutical and surgical treatment options, and seizures increasingly appear to often play a role in those whose lives are cut short. The CureSHANK Epilepsy Research Grant will stimulate research interest in the connection between seizures and deletions/variants of the SHANK3 gene. CureSHANK is bringing together SHANK3 experts and epilepsy experts to develop a white paper and announce a request for applications (RFA) from researchers. We will provide $125,000 in grant funding for this initiative.

Developmental Regression

One of the most devastating aspects of Phelan-McDermid syndrome is developmental regression: skills lost quite often never return. The CureSHANK Developmental Regression Research Grant ($125,000) will be granted to the most promising proposal for exploring the causes of regression in individuals Phelan-McDermid syndrome.

One of the most devastating aspects of Phelan-McDermid syndrome is developmental regression. Nearly all individuals living with the disorder not only experience developmental delay but the actual loss of skills, which quite often are never regained: children who once could speak, understand how to play games, and even read routinely lose such skills and live the remainder of their lives at the level of a toddler or younger. The CureSHANK Developmental Regression Research Grant will stimulate interest in researching the etiology of developmental regression in Phelan-McDermid syndrome., exploring such hypotheses as immune and inflammatory causes. CureSHANK is bringing together Phelan-McDermid syndrome experts and experts who have studied regression in other disorders to develop a white paper and announce a request for applications (RFA) from researchers. The proposal with the most promise as evaluated by the experts will receive the $125,000 research grant.

Sleep Dysfunction

Sleep disturbance is highly prevalent in individuals with profound autism, and most individuals with Phelan-McDermid syndrome fit in that category. CureSHANK is contributing $20,000 to an Autism Science Foundation grant that is validating the use of a headband device that is able to measure sleep data at home in those with profound autism.

Sleep disturbance is highly prevalent in individuals with profound autism and exacerbate other symptoms, but existing studies of sleep in autism have mostly excluded such children—a category which describes most of the more than 80% of individuals with Phelan-McDermid syndrome diagnosed with autism. This omission has been blamed on the added burden, expense, and difficulty of studying sleep in children with profound autism in a lab setting. The Autism Science Foundation (ASF)’s is supporting a research grant: Testing a Novel Device to Study Sleep at Home in Children with Profound Autism, led by Dimitrios Myonas, Ph.D. at Massachusetts General Hospital. CureSHANK is contributing $20,000 to this project on the condition that children with Phelan-McDermid syndrome are included in it. This expands a sleep study currently in progress to add a cohort of children with profound autism. The goal of the study is to validate the use of a minimally invasive headband device that measures sleep quality at home and provides data on specific brainwave patterns, during different phases of sleep, in people with autism vs. people without autism.

DAILY MATCH

Donor Match Up to $25,000!

Anonymous donors have pledged to match up to $5,000
raised on each of the five days, May 1 - 5, 2023.

Our mission is urgent: the more funds we can raise, the more speedily and efficiently we can bridge the translational research gap and get to cures and treatments for our sweet loved ones living every day with Phelan-McDermid syndrome!

DAILY MATCH

Daily Goal Progress

Help us reach our daily match goal!

Daily Goal - DAY 1

Daily Goal - DAY 2

Daily Goal - DAY 3

Daily Goal - DAY 4

Daily Goal - DAY 5

About CureSHANK

Our purpose is to accelerate the development of treatments for Phelan-McDermid syndrome and SHANK-related disorders.

The founders of CureSHANK are parents of children living with Phelan-McDermid syndrome, who believe that a better life for our children is within reach. CureSHANK’s mission is to accelerate the development of cures and treatments by funding projects that bridge the translational research gap between basic SHANK3 science and FDA-approved clinical trials. We work with urgency and believe collaboration is critical to the success of our mission. We are committed to scientific excellence and to transparency in how we invest in our projects.

Our approach is to identify and fund projects that overcome critical barriers to successful drug development and to coordinate scientific efforts to improve efficiency and speed in the field.

What is Phelan-McDermid Syndrome?

A neurodevelopmental disorder caused by deletions of or changes to the SHANK3 gene. Individuals affected by this disease experience developmental delay, intellectual disability, delayed or absent speech, and autism.

Common comorbid conditions include epilepsy, hypotonia, sleep disturbances, gastrointestinal problems, lymphedema, and psychiatric illness. The severity of symptoms is highly variable, but virtually no one with this disorder can even come close to living independently. In some patients, comorbid conditions result in death. There are currently no treatments for Phelan-McDermid syndrome. CureSHANK is bridging the translational research gap between basic SHANK3 science and FDA-approved clinical trials.