PMC:7031805 / 1972-4021 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/7031805","sourcedb":"PMC","sourceid":"7031805","source_url":"https://www.ncbi.nlm.nih.gov/pmc/7031805","text":"Introductory Vignette by Amanda Jaksha: Clinical Trials—A Parent’s Perspective\nCDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy that typically presents with refractory epilepsy, often epileptic spasms without hypsarrhythmia, in the first days or months of life. In 2012, at the age of 6.5 years, my daughter was diagnosed with CDD. By then, she had endured thousands of seizures and failed most available AEDs. She narrowly escaped liver failure from drug rash with eosinophilia and systemic symptoms syndrome upon the introduction of a second-generation AED adjunct therapy. Also seasoned in failed treatments for comorbidities of dysmotility, behavior, and sleep, we become cynical about introducing any compounds.\nWe recently convened serious discussions about seizure control due to a decrease in her quality of life, with puberty onset increasing daily seizure activity. My daughter was a candidate for 2 clinical trials, one a blinded, placebo-controlled study and the other an open-label investigation. It was a simple choice as there was no time for a placebo. Upon completion of the observation period, she received her first dose around 6 weeks later. There was an immediate increase in seizures, and a few days later, a gradual reduction from baseline activity emerged. Anxiety and vocal stimming behaviors decreased substantially, and her gross motor skills became more fluid and sustained. With these improvements, she enjoys more functional access to community and more independence with the ability to ambulate longer distances. She also appreciates expressing more of her voice as she uses her eyes to talk via an eye-gaze communication (AAC) device. She can tell me to go away or that she feels diabolical with higher efficiency and less frustration. While her epilepsy remains refractory, to our surprise and delight, her quality of life has increased beyond anything imagined with this assumed improvement in other neuronal functions.\n—Amanda Jaksha, International Foundation for CDKL5 Research","divisions":[{"label":"title","span":{"begin":0,"end":78}},{"label":"p","span":{"begin":79,"end":752}},{"label":"p","span":{"begin":753,"end":1989}}],"tracks":[{"project":"testtesttest","denotations":[{"id":"T2","span":{"begin":468,"end":473},"obj":"Body_part"},{"id":"T3","span":{"begin":1418,"end":1423},"obj":"Body_part"},{"id":"T4","span":{"begin":1646,"end":1650},"obj":"Body_part"},{"id":"T5","span":{"begin":1666,"end":1669},"obj":"Body_part"}],"attributes":[{"id":"A2","pred":"uberon_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/UBERON_0002107"},{"id":"A3","pred":"uberon_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/UBERON_0006314"},{"id":"A4","pred":"uberon_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/UBERON_0000019"},{"id":"A5","pred":"uberon_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/UBERON_0000019"},{"id":"A6","pred":"uberon_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/UBERON_0000970"},{"id":"A7","pred":"uberon_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/UBERON_0010230"},{"subj":"T2","pred":"source","obj":"testtesttest"},{"subj":"T3","pred":"source","obj":"testtesttest"},{"subj":"T4","pred":"source","obj":"testtesttest"},{"subj":"T5","pred":"source","obj":"testtesttest"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"testtesttest","color":"#ec939e","default":true}]}]}}