Found 3 clinical trials
COhort for Bardet-Bield Syndrome and Alstr m Syndrome for Translational Research Monocentric Interventional Study
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve …
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- 19 Feb, 2024
Population at Risk of Malignant Hyperthermia: Ambispective Cohort.
Malignant hyperthermia (MH) is a pharmacogenetic disease that manifests itself as a hypermetabolic response of skeletal musculature, in genetically susceptible patients, with the inhalation of volatile halogenated anesthetics, depolarizing neuromuscular relaxants such and, rarely, physical stressors such as intense exercise and heat stroke. HM diagnosis is based on the performance …
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- 19 Feb, 2024
B3 for NMD: Bench to Bedside and Back
Background: Neuromuscular diseases (NMD) represent a broad group of rare genetic and acquired disorders, affecting over 300,000 people in Canada. Given the multiple different NMD subtypes, almost half of patients with NMD remain undiagnosed. Objective: The purpose of this study is to identify genetic or other markers in patient biosamples …
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- 19 Feb, 2024