View clinical trials related to Alternating Hemiplegia.
Filter by:Alternating Hemiplegia of Childhood (AHC) is a very rare neurological disorder of genetic origin, combining paroxysmal episodes and neurodevelopmental impairment. The disease is generally sporadic, and its incidence has been estimated at 1 in 100,000 births, with around 500 cases published worldwide. The true prevalence of AHC may be underestimated due to a lack of understanding of the disease and a high degree of phenotypic heterogeneity. It should be noted that, to date, it is difficult to assess the clinical characteristics of AHC patients in a homogeneous way. The lack of disease-specific clinical outcome measures therefore constitutes a critical node for advancing AHC research. In addition, recognition of the pattern of movement disorders and the ability to classify their severity are very important and useful for the clinician. Homogeneous disease assessment will help plan rehabilitative and pharmacological interventions, facilitate monitoring of treatment outcomes, and predict prognosis. This is why an AHC assessment scale have been developed in collaboration with clinical teams from the IAHCRC consortium. The scale has already been tested and validated on Italian and Spanish patients. The aim of this study is therefore to validate the use of this same scale on our French population of AHC patients. The hypothesis of the study is that the practical use of this scale specific to alternating hemiplegia is reproducible. To this end, all the items on the scale will be scored independently for each patient by 4 neuropediatricians with expertise in the disease, in order to observe the reproducibility of the results obtained with this scale. The scale will be used for twenty AHC patients of all ages.
Alternating Hemiplegia of Childhood (AHC) is a rare and serious disease that is in need of effective, and hopefully even curative, therapies. Afflicted patients suffer from severe paralyzing crises, often excruciatingly painful muscle spasms, severe often life threatening epileptic seizures, and frequently severe developmental and psychiatric/psychological disabilities. Based on the repeated input from family organizations and from professionals, as expressed at the London 2016 ATP1A3 in Disease meeting, there are urgent clinical research needs for AHC that are essential to better understand the disease, evaluate its treatment options and plan for future controlled clinical trials. The goal of the study is to evaluate different parameters involved in the evolution of the AHC. The investigating team's hypothesis is that the evolution is variable so it aims to evaluate the factors which could contribute to the progression of the disease.