The Acquisition of Rare Neurological Disorders in Childhood (”ESNEK”): First Interim Results after 2 Years
26 April 2017 (online)
Background: In 2014, we established the Acquisition of Rare Neurological Disorders in Childhood (“Erhebung Seltener Neurologischer Erkrankungen im Kindesalter - ESNEK”) which was modeled on the German pediatric surveillance system (Erhebungseinheit seltener pädiatrischer Erkrankungen in Deutschland, ESPED). Our aim was to facilitate research projects in the field of rare neurologic disorders in childhood by recruiting sufficiently large cohorts of patients with a rare condition.
Methods: Clinical researchers 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. Due to funding of the Ministry of Science and Culture of Lower-Saxony (NMWK), ESNEK queries are provided free of charge.
Results: Since October 2014, seven ESNEK queries were sent out via email to some 1,000 child neurologists, with varying response. (1) Congenital oculomotor apraxia type Cogan (project conduct Göttingen, number of reported cases n = 63), (2) Genotype phenotype associations in FOXG1 syndrome (Göttingen, Leipzig, and Stuttgart, n = 26), (3) Congenital and juvenile myasthenia (Essen and München, n = 34), (4) Phenotypic variability of CAPOS syndrome (Göttingen, n = 7), (5) Oral treatment of pediatric multiple sclerosis (Münster, n = 19), (6) Movement disorder associated with ADCY5 mutation (Göttingen and Lübeck, n = 10), and (7) Radiologically isolated syndrome (Münster, n = 9). Currently, three further projects are being prepared. As yet two scientific reports were published related with project no. 1, and concerning project no. 2, a manuscript is under review.
Conclusion: ESNEK is facilitating a wide range of scientific research projects in the field of rare neurologic disorders in childhood.