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The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.
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A mutation in the tectonin beta-propeller repeat containing 2 (TECPR2) gene can disrupt the cellular process of autophagy resulting in neuronal cell death. This disruption leads to a form of spastic paraplegia with the additional disruption to involuntary body processes, such as respiration and thermoregulation. This study will provide valuable information about the natural progression of children with a TECPR2 mutation.
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5 participants in 1 patient group
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Samantha Norman
Data sourced from clinicaltrials.gov
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