Identifying Markers of Disease Subtypes and Disease Progression in the Syndrome of Essential Tremor

Официальное название

Identifying Markers of Disease Subtypes and Disease Progression in the Syndrome of Essential Tremor - a Prospective Cohort Study

Обзор

The goal of this observational study is to learn about epidemiology, biologic markers, disease subtypes and possible prognostic factors in essential tremor (ET) patients. The main question\[s\] it aims to answer are: * The prevalence of ET-plus compared to ET in a prospectively collected ET population. * To assess in detail the heterogenous group of ET patients using comprehensive clinical (motor and non-motor scales, questionnaires), imaging \[magnetic resonance imaging (MRI), sonography of substantia nigra and cerebral vessels\], neurophysiological (tremor analysis, digital spiral drawing) and laboratory markers (sGFAP, sNfL, routine laboratory parameters). * To assess possible non-invasive markers of neurodegeneration in ET patients (optic coherence tomography, alpha-synuclein in olfactory mucosa) Participants will be asked to undergo the above mention evaluation at baseline and at follow-up approx. 5 years later. Researchers will compare the findings within the ET group to independently existing cohorts of healthy controls and/or patients with other movement disorders like Parkinson's disease.

Вмешательства

• Диагностический тест Clinical examination, blood draw, cerebral MRI, sonography, tremor analysis, OCT, olfactory mucosa swab.
  see previous descriptions

Первичные конечные точки

• Prevalence of ET-plus [Срок оценки: approx. 2 years]

Вторичные конечные точки (12)

• Age of ET patients [Срок оценки: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• Sex of ET patients [Срок оценки: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• Family history [Срок оценки: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• Symptom leading to ET-plus classification [Срок оценки: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• current and former medication for essential tremor [Срок оценки: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• subjective disease course of ET [Срок оценки: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• responsivity to alcohol [Срок оценки: 1 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• presence of cardiovascular risk factors [Срок оценки: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• MDS-UPDRS (Movement Disorder Society Unified Parkinson's Disease Rating Scale) parts I-IV [Срок оценки: 20-30 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• modified Essential Tremor Rating Assessment Scale (mTETRAS) [Срок оценки: 10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• Scale for the assessment and rating of ataxia (SARA) [Срок оценки: 5-10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]
• Verbal fluency animals (part of the CERAD-plus test battery) [Срок оценки: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)]

Критерии участия

Критерии включения

• Presence of an essential tremor syndrome according to MDS consensus criteria or suspected incipient essential tremor (differential diagnosis vs. enhanced physiological tremor)
• Patient is able and willing to give informed consent.
• age above 18 years.

Критерии исключения

• Patient is not able or not willing to give informed consent.
• Existence of a legal representative.
• age below 18 years

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Австрия · 1 центр

• Medical University of Graz — Graz

Публикации

• Bhatia KP, Bain P, Bajaj N, Elble RJ, Hallett M, Louis ED, Raethjen J, Stamelou M, Testa CM, Deuschl G; Tremor Task Force of the International Parkinson and Movement Disorder Society. Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society. Mov Disord. 2018 Jan;33(1):75-87. doi: 10.1002/mds.27121. Epub 2017 No PMID 29193359
• Doustar J, Torbati T, Black KL, Koronyo Y, Koronyo-Hamaoui M. Optical Coherence Tomography in Alzheimer's Disease and Other Neurodegenerative Diseases. Front Neurol. 2017 Dec 19;8:701. doi: 10.3389/fneur.2017.00701. eCollection 2017. PMID 29312125
• Stefani A, Iranzo A, Holzknecht E, Perra D, Bongianni M, Gaig C, Heim B, Serradell M, Sacchetto L, Garrido A, Capaldi S, Sanchez-Gomez A, Cecchini MP, Mariotto S, Ferrari S, Fiorini M, Schmutzhard J, Cocchiara P, Vilaseca I, Brozzetti L, Monaco S, Jose Marti M, Seppi K, Tolosa E, Santamaria J, Hogl B, Poewe W, Zanusso G; SINBAR (Sleep Innsbruck Barcelona) group. Alpha-synuclein seeds in olfactory PMID 33855335

Идентификаторы

NCT: NCT06349538 · 35-435 ex 22/23

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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