Natural History Study
Dr. Anne Berg, Research Professor, Ann & Robert H Lurie Children’s Hospital of Chicago and
the Northwestern Feinberg School of Medicine.
Rare, early-life epilepsies are the focus of many efforts to develop new therapeutics that will treat the disease “precision medicine” and not just suppress the seizures. Without fully understanding the spectrum and severity of problems that may affect children with a given rare disorder, such as CHD2-associated epilepsy, it is difficult to define what exactly it means to “treat the whole disease” and make a child better…all better! The Natural History Project was designed to give voice to the parent perspective regarding seizures and the many morbidities that affect children with rare forms of epilepsies that tend to begin early in life and to be associated with far more than seizures alone. Parents played an integral role in identifying the topics that were addressed and defining specific questions.
The CHD2 family group participated in a survey about CHD2 in 2019, and the accompanying infographic was designed in consultation with parents of children who participated in that survey. It displays the information about CHD2-associated neurodevelopmental disorders as reported by the parents.
The project was created and led by Dr. Anne Berg, Research Professor, Ann & Robert H Lurie Children’s Hospital of Chicago and the Northwestern Feinberg School of Medicine. Gerry Nesbitt, MBA created the software platform, CLIRINX, that housed the project. In addition to many parents, several colleagues contributed to the design of this project including Drs. Frank Zelko, Greta Wilkening, Deb Gaebler, Priya Tatachar, Kelly Knupp, and Anna Ivanenko. It has been funded by a grant from the Pediatric Epilepsy Research Foundation, Dallas, TX and the Stanley Manne Children’s Research Institute and Ann & Robert H. Lurie Children’s Hospital of Chicago under the Precision Medicine Initiative.
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Ongoing Studies
RARE-X Study
Participating in a data collection program is one of the most important things that families with a child with CHD2-related neurodevelopmental disorders can do.
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CHD2 In Adults
This study aims to understand seizures, communication and daily living of adults with CHD2 mutations.
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Ciitizen/Invitae
Natural History Studies (NHS) are critical to the drug development process. Ciitizen has developed a new method to make this process easier.
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