Erhebung Seltener Neurologischer Erkrankungen im Kindesalter

Recruitment of a sufficiently large cohort of patients is a prerequisite for many research projects in the field of rare disorders. We are establishing the Acquisition of Rare Neurological Disorders in Childhood (Erhebung Seltener Neurologischer Erkrankungen im Kindesalter—ESNEK) which is modeled on the German pediatric surveillance system (Erhebungseinheit seltener pädiatrischer Erkrankungen in Germany, ESPED).

ESNEK will be based in the Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen. Any clinical researcher in the field of pediatric neurology in German-speaking countries may apply for admission of a scientific study, which needs nationwide recruitment of patients with a given rare neurological disorder. A short summary of the study design and a consent form for the parents must be included in the application. Approval of an ethics committee must be obtained by the respective principal investigator.

ESNEK will then send an e-mail to some 700 pediatric neurologists in Germany asking who is in charge of a patient with this given neurological disorder. Thus, ESNEK does not ascertain incidences but prevalences of rare disorders. The pediatric neurologist mails back just the number of patients he or she is aware of, not any names or contact data. As a next step ESNEK will send a printed summary of the study design and a printed consent form for the parents via post, to be forwarded to the families. Parents who agree to participate will fill in and sign the consent form and send it back to ESNEK. These forms will be registered and forwarded to the respective principal investigator, who now may contact the patients’ families directly.

ESNEK will prove to be a tool facilitating a wide range of scientific research projects in the field of rare neurologic disorders in childhood.