Clinical trial NCT04023656: Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea
Official title: Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Paroxysmal Kinesigenic Choreoathetosis
Keywords: paroxysmal kinesigenic choreoathetosis
Prognosis
Korean population
Lead sponsor: Seoul National University Hospital
Sponsor class: OTHER
First posted: 2019-07-17
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The investigators enrolled subjects at the Seoul National University Hospital. Subjects were diagnosed with paroxysmal kinesigenic choreoathetosis (PKC) and followed-up at the Seoul National University Hospital. All subjects were enrolled voluntarily and understood the contents of this trial.

Brief summary: The aim of this study is to assess the prognosis of paroxysmal kinesigenic choreoathetosis (PKC) in Korean.

Detailed description: PKC is a hyperkinetic movement disorder including dystonia, chorea, athetosis, or ballism, which are characteristically triggered by a sudden movement from rest. The prevalence of this disorder is estimated to be 1 in 150,000 population. Males are more commonly affected than females, and the age of onset is typically in childhood or adolescence. PKC is mainly a familial disorder with autosomal dominant inheritance and incomplete penetrance, but it can occur sporadically. The PRRT2 (proline-rich transmembrane protein 2) gene is believed to be the major causative gene.

The prognosis of PKC is usually favorable. The severity and frequency of the attacks are reduced by anticonvulsant medication such as carbamazepine, and the number of the attacks decreases at the age of 20-30 years. However, there has been little study of long-term prognosis of PKC, and no study has been conducted in Korean population.

Eligibility criteria: Inclusion Criteria:

* Male or female PKC patients who were18 years of age and older
* Subjects were diagnosed as paroxysmal kinesigenic choreoathetosis (PKC)
* Subjects were enrolled voluntarily and understood the contents of this trial

Exclusion Criteria:

* Existence of lesions on the brain
* Existence of neurological deficit that suspected lesions on the brain
* Existence of epileptiform discharges on electroencephalogram
* Subjects with secondary PKC which was caused by other disorder or illness
* Existence of illness or problems which made difficult to be enrolled to this trial judged by clinicians

Primary outcomes:
measure: Changes in clinical characteristics of PKC relative to the baseline.
timeFrame: up to 10 years
measure: Changes in clinical characteristics of PKC over the last year.
timeFrame: up to 10 years
measure: Changes in medication history of PKC over the last year.
timeFrame: up to 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Seoul
country: Korea, Republic of
facility: Seoul National University Hospital
Study officials:
affiliation: Seoul National University Hospital
name: Han-joon Kim, MD, Ph.D
role: PRINCIPAL_INVESTIGATOR
References:
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