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出境医 / 临床实验 / Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea

Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea

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

Condition or disease
Paroxysmal Kinesigenic Choreoathetosis

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.

Study Design
Layout table for study information
Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study
Actual Study Start Date : November 11, 2016
Estimated Primary Completion Date : December 31, 2026
Estimated Study Completion Date : December 31, 2026
Arms and Interventions
Outcome Measures
Primary Outcome Measures :
  1. Changes in clinical characteristics of PKC relative to the baseline. [ Time Frame: up to 10 years ]
    Improvement or worsening of the attacks relative to the baseline state assessed by a questionnaire, categorized as following; 1, full remission (absence of the attacks); 2, improvement (more than 50% decreased mean frequency of the attacks); 3, worsening (increased frequency of the attacks).

  2. Changes in clinical characteristics of PKC over the last year. [ Time Frame: up to 10 years ]
    Improvement or worsening of the attacks over the last year assessed by a questionnaire, categorized as following; 1, full remission (absence of the attacks); 2, improvement (more than 50% decreased mean frequency of the attacks); 3, worsening (increased frequency of the attacks).

  3. Changes in medication history of PKC over the last year. [ Time Frame: up to 10 years ]
    Continuation or discontinuation of the medication for relief of the attacks assessed by a questionnaire, categorized as following; 1, continuation of medication; 2, discontinuation of medication.


Eligibility Criteria
Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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
Contacts and Locations

Contacts
Layout table for location contacts
Contact: Han-joon Kim, MD, Ph.D +82-2-2072-1219 movement@snu.ac.kr

Locations
Layout table for location information
Korea, Republic of
Seoul National University Hospital Recruiting
Seoul, Korea, Republic of, 03080
Contact: Han-joon Kim, MD, Ph.D    +82-2-2072-1219    movement@snu.ac.kr   
Principal Investigator: Han-joon Kim, MD, Ph.D         
Sponsors and Collaborators
Seoul National University Hospital
Investigators
Layout table for investigator information
Principal Investigator: Han-joon Kim, MD, Ph.D Seoul National University Hospital
Tracking Information
First Submitted Date July 12, 2019
First Posted Date July 17, 2019
Last Update Posted Date July 17, 2019
Actual Study Start Date November 11, 2016
Estimated Primary Completion Date December 31, 2026   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 15, 2019)
  • Changes in clinical characteristics of PKC relative to the baseline. [ Time Frame: up to 10 years ]
    Improvement or worsening of the attacks relative to the baseline state assessed by a questionnaire, categorized as following; 1, full remission (absence of the attacks); 2, improvement (more than 50% decreased mean frequency of the attacks); 3, worsening (increased frequency of the attacks).
  • Changes in clinical characteristics of PKC over the last year. [ Time Frame: up to 10 years ]
    Improvement or worsening of the attacks over the last year assessed by a questionnaire, categorized as following; 1, full remission (absence of the attacks); 2, improvement (more than 50% decreased mean frequency of the attacks); 3, worsening (increased frequency of the attacks).
  • Changes in medication history of PKC over the last year. [ Time Frame: up to 10 years ]
    Continuation or discontinuation of the medication for relief of the attacks assessed by a questionnaire, categorized as following; 1, continuation of medication; 2, discontinuation of medication.
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea
Official Title Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study
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.

Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 10 Years
Biospecimen Not Provided
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.
Condition Paroxysmal Kinesigenic Choreoathetosis
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *
  • Mao CY, Shi CH, Song B, Wu J, Ji Y, Qin J, Li YS, Wang JJ, Shang DD, Sun SL, Xu YM. Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases. J Neurol Sci. 2014 May 15;340(1-2):91-3. doi: 10.1016/j.jns.2014.02.034. Epub 2014 Mar 3.
  • Li HF, Chen WJ, Ni W, Wang KY, Liu GL, Wang N, Xiong ZQ, Xu J, Wu ZY. PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response. Neurology. 2013 Apr 16;80(16):1534-5. doi: 10.1212/WNL.0b013e31828cf7e1. Epub 2013 Mar 27.
  • Castiglioni C, López I, Riant F, Bertini E, Terracciano A. PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. Eur J Paediatr Neurol. 2013 May;17(3):254-8. doi: 10.1016/j.ejpn.2012.10.010. Epub 2012 Nov 19.
  • Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015 Dec;138(Pt 12):3476-95. doi: 10.1093/brain/awv317. Epub 2015 Nov 23. Review.
  • Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28;63(12):2280-7. Review.
  • Unterberger I, Trinka E. Diagnosis and treatment of paroxysmal dyskinesias revisited. Ther Adv Neurol Disord. 2008 Sep;1(2):4-11. doi: 10.1177/1756285608095119.
  • Bennett LB, Roach ES, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology. 2000 Jan 11;54(1):125-30.
  • Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H. The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23. Review.
  • Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF Jr, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25;55(2):224-30.
  • Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology. 2012 Jul 10;79(2):170-4. doi: 10.1212/WNL.0b013e31825f06c3. Epub 2012 Jun 27.
  • Marini C, Conti V, Mei D, Battaglia D, Lettori D, Losito E, Bruccini G, Tortorella G, Guerrini R. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology. 2012 Nov 20;79(21):2109-14. doi: 10.1212/WNL.0b013e3182752ca2. Epub 2012 Oct 17.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 15, 2019)
100
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 31, 2026
Estimated Primary Completion Date December 31, 2026   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Han-joon Kim, MD, Ph.D +82-2-2072-1219 movement@snu.ac.kr
Listed Location Countries Korea, Republic of
Removed Location Countries  
 
Administrative Information
NCT Number NCT04023656
Other Study ID Numbers 1611HJKim808
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Han-Joon Kim, Seoul National University Hospital
Study Sponsor Seoul National University Hospital
Collaborators Not Provided
Investigators
Principal Investigator: Han-joon Kim, MD, Ph.D Seoul National University Hospital
PRS Account Seoul National University Hospital
Verification Date July 2019