Clinical trial NCT04198246: Chinese ET Registry (CETR)
Official title: The Chinese Essential Tremor Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Essential Tremor
Keywords: Motor symptoms
Nonmotor symptoms
Natural history
The Essential Tremor Rating Assessment Scale (TETRAS)
Lead sponsor: Xiangya Hospital of Central South University
Sponsor class: OTHER
First posted: 2019-12-13
Enrollment: 1000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Most of the ET patients comes from mainland China, especially from Hunan Province, Hubei Province, Jiangxi Province and Guizhou Province. The proportion of male patients is slightly dominant than that of female patients. The age of ET patients ranges from 13 to more than 90 years old.

Brief summary: The purpose of the Chinese Essential Tremor Registry (CETR) is to develop a database of patients with Essential tremor in China.

Detailed description: Essential tremor (ET) is one of the most common movement disorders and affects approximately 1% of the population worldwide. Twin and family history studies show a high heritability for essential tremor. The molecular genetic determinants of essential tremor are unknown. Some mutations have been found in ET families but have not been validated in others. The pathophysiological basis of ET remains unknown. In 2017, a task force of the International Parkinson and Movement Disorder Society proposed a new formal definition of essential tremor as a syndrome of isolated tremor of both upper limbs with a duration of at least 3 years, with or without tremor in other locations, such as head, larynx (voice tremor), or lower limbs. Defining essential tremor as a syndrome and not as a single disease, while concomitantly narrowing its phenotypic scope to increase its homogeneity, recognizes that there are multiple possible causes, which may facilitate progress in understanding the pathogenesis. Investigators aim to establish a database of longitudinal recruited ET cohort, and characterize the clinical feature, genetic basis, environmental factors and their interactions among different ET subtypes in China, identify natural history of a highly-presentative Chinese ET cohort and to discern major milestones in the disease process which indicates disease progression.

Data were collected at baseline. Information about detailed disease history, level of education, significant chronic comorbidities, physical examination, medication history, family history, living habits and toxic exposure history, which include smoking, drinking tea, alcoholic consumption, drinking coffee, exposure to pesticide or occupational solvent, history of carbon monoxide poisoning and recurrent head trauma will be recorded at baseline. For each evaluation, the same questionnaires will be conducted. A standardized neurological assessment according to the recommendation of Consensus on the construction of clinical database of Parkinson's disease and movement disorders in China.

The Essential Tremor Rating Assessment Scale (TETRAS) includes both performance and Activities of Daily Living (ADL) subscales. It is conducted for the clinical measurement of ET severity and tremor's impact on ADL. The non-motor symptoms are evaluated by Non-motor Symptom Scale (NMSS).Functional constipation was diagnosed by the Rome III diagnostic criteria. Excessive daytime sleepiness was evaluated by Epworth Sleepiness Scale (ESS). Probable rapid eye movement sleep behavior disorder (p-RBD) was diagnosed by rapid eye movement sleep behavior questionnaire-Hongkong (RBDQ-HK). Restless leg syndrome (RLS) was diagnosed with the Cambridge Hopkins Restless Leg syndrome questionnaire (CH-RLSq). Cognitive assessment was used the previously validated scale, Mini Mental State Examination (MMSE). Olfaction test was carried out by Hyposmia Rating Scale (HRS), a proportion of patients was also ascertained by Sniffin's Sticks. Depression was diagnosed by Hamilton Depression Scale (HAMD).DNA samples extracted from peripheral blood and all the ET patients will be examed by Whole Exome Sequencing or Whole-genome sequencing. All the participants are scanned by structural MRI to exclude obvious intracranial lesions and other metabolic disorders, etc.

Eligibility criteria: Inclusion Criteria:

* Patients diagnosed with ET by the Consensus Statement on the Classification of Tremors,From the Task Force on Tremor of the International Parkinson and Movement Disorder Society.

Exclusion Criteria:

* Lack of capacity to consent to participate in the project.

Primary outcomes:
measure: The tremor's impact on activities of daily living and clinical measurement of ET severity are evaluated by The Essential Tremor Rating Assessment Scale (TETRAS).
timeFrame: baseline
measure: The non-motor symptoms are evaluated by Non-motor Symptom Scale.
timeFrame: baseline
measure: Cognitive condition is assessed by Mini Mental State Examination.
timeFrame: baseline
measure: Olfaction test was measured by Hyposmia Rating Scale.
timeFrame: baseline
measure: Depression was diagnosed by Hamilton and Montgomery-Asberg Depression Scale.
timeFrame: baseline
Secondary outcomes:
measure: Constipation was diagnosed by Functional Constipation Diagnostic Criteria Rome III.
timeFrame: baseline
measure: Excessive sleepiness is evaluated by Epworth Sleepiness Scale.
timeFrame: baseline
measure: Probable rapid eye movement sleep behavior disorder was diagnosed by Probable rapid eye movement sleep behavior disorder Questionnaire-Hongkong.
timeFrame: baseline
measure: Restless leg syndrome (RLS) was diagnosed with the Cambridge Hopkins Restless Leg syndrome questionnaire.
timeFrame: baseline
Other outcomes:
Locations:
city: Changsha
country: China
facility: Xiangya Hospital of Central South University
state: Hunan
Study officials:
References: