KCNQ2 Natural History Study
What is a Natural History Study?
A type of medical research study. In natural history studies, researchers examine how a disease or medical condition develops over time. Researchers follow participants who are at risk for or have a specific disease or condition to determine how specific factors, such as family history, age, and occupational exposure, affect the development or progression of the disease or condition. Data collected during a natural history study also provide information on how best to treat a condition or disease.
Knowledge of natural history is essential for developing more efficient clinical trial designs. It also could help reduce the length and cost of drug development and, possibly, contribute toward greater predictability of clinical development programs.
- Janet Woodcock, M.D., Director of FDA's Center for Drug Evaluation and Research (CDER)
KCNQ2 Natural History Study
Principal Investigator: Annapurna Poduri, MD, MPH
Epilepsy Genetics Program, Boston Children’s Hospital
Brief Description:
The Epilepsy Genetics Program (led by Dr. Ann Poduri) is conducting research to better understand the genetic underpinnings contributing to epilepsy syndromes including Ohtahara syndrome, infantile spasms, early infantile epileptic encephalopathy, Dravet syndrome, Doose syndrome, etc. A major focus of Dr. Poduri’s research has been KCNQ2-related epilepsy. Through grant funding provided by the KCNQ2 Cure Alliance, Dr. Poduri’s research will be focusing additional effort on investigating the neurodevelopmental role of KCNQ2 in cellular and animal models.
Eligibility:
We are enrolling individuals with KCNQ2-related epilepsy and neurodevelopmental disorders and potentially additional family members.
Participation Details:
Participation includes reviewing consent materials with a member of the study staff, providing access to existing medical records, and completion of a medical/developmental history questionnaire. All enrollment and participation steps can be completed remotely and do not require visits to Boston Children’s Hospital.
How to Contact Us:
Please send an email to podurilab@childrens.harvard.edu or call 617-355-5254 and provide your name and the best way to reach you (email and/or phone number).