View clinical trials related to GM1 Gangliosidosis.
Filter by:The clinical project "Eight At One Stroke: Attention Gangliosidoses" represents a clinical registry for recording the clinical manifestation and the disease progression of gangliosidoses. The intention of this project is to better understand the manifestation and progression of gangliosidoses and to raise awareness of these disorders in the public health service. The patients or their families, respectively, will be integrated in the study in order to measure Patient Outcome and to objectify the psychosocial burden for the patient and his family. The study has a retrospective and a prospective part. It is planned to transfer the data of the study into a continuous registry.
Owing to the rarity, severity, speed of progression and fatal prognosis of infantile and juvenile GM1, there is a limited understanding of overall disease progression and meaningful outcome measures. This study aims to build a natural history data set through collection of a number of clinical, imaging, and laboratory assessments that may be specific predictors of GM1 disease progression and clinical outcome. Having a GM1 natural history data set can inform potential efficacy endpoints and biomarkers for future clinical trials. This natural history study will follow up to 40 subjects diagnosed with GM1 gangliosidosis (up to 20 infantile (Type 1) and 20 late infantile/juvenile (Type 2)) for up to 3 years. Visits will be conducted every 6 months, during which several procedures will be performed and the data recorded in order to learn about the natural course of the disease, including changes in clinical and neurological assessments and electrophysiologic, imaging and biofluid biomarkers. Study procedures include: physical & neurological exam, blood & urine sample collection, questionnaires & assessments of development, seizure diary, ECHO, ECG, x-ray and ultrasound (if MRI not performed), EEG and genetic testing (if not already done). The following procedures are subject to local/institutional policies and the medical discretion of the Study Physician: MRI, lumbar puncture (spinal tap) and General anesthesia/sedation (for MRI and LP).
Hypothesis: To characterize and describe disease progression and heterogeneity of the gangliosidosis diseases. This research study seeks to develop a quantitative method to delineate disease progression for the gangliosidosis diseases (Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis) in order to better understand the natural history and heterogeneity of these diseases. Such a quantitative method will also be essential for evaluating any treatments that may become available in the future, such as gene therapy. The data from this study will be necessary to provide end-points for future therapies, guide medical decisions about treatment, provide objective measurement of treatment outcomes, and accurately inform parents regarding potential outcomes.