FV 1118. The Acquisition of Rare Neurological Disorders in Childhood (“ESNEK”)—Interim Results after 4 Years

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 currently provided free of charge.

Results: Sixteen ESNEK queries were sent out since October 2014 via e-mail 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 & Stuttgart, n = 26), (3) congenital and juvenile myasthenia (Essen & 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 & Lübeck, n = 10), (7) radiologically isolated syndrome (Münster, n = 9), (8) genotype-MRI associations in FOXG1 syndrome (Göttingen, Leipzig & Vogtareuth, n = 14), (9) QARS-associated microcephaly (Leipzig, n = 3), (10) ADCK3-associated ataxia (Tübingen, n = 0), (11) progeria syndromes (Human Genetics Göttingen, n = 8), (12) hereditary spastic paraplegia type SPG47, 48, 50, 51, and 52 (Homburg/Saar, n = 6), (13) neuromyelitis optica spectrum disorders (Datteln & Innsbruck, n = 20), (14) MEF2C syndrome (Human Genetics Leipzig, n = 4), (15) Sturge-Weber’s and PHACE syndromes (Homburg/Saar, n > 90), and (16) COL4A1/2-associated conditions (UKE Hamburg, n = 17). Further queries are being prepared.

Several scientific reports were published related with ESNEK projects.

Conclusion: ESNEK is facilitating a wide range of scientific research projects in the field of rare neurologic disorders in childhood. There was considerable variation in feedback in terms of numbers of cases reported in the various projects.