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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04023656
Other study ID # 1611HJKim808
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date November 11, 2016
Est. completion date December 31, 2026

Study information

Verified date July 2019
Source Seoul National University Hospital
Contact Han-joon Kim, MD, Ph.D
Phone +82-2-2072-1219
Email movement@snu.ac.kr
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial Summary

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


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 100
Est. completion date December 31, 2026
Est. primary completion date December 31, 2026
Accepts healthy volunteers No
Gender All
Age group 18 Years and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
Korea, Republic of Seoul National University Hospital Seoul

Sponsors (1)

Lead Sponsor Collaborator
Seoul National University Hospital

Country where clinical trial is conducted

Korea, Republic of, 

References & Publications (11)

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

* Note: There are 11 references in allClick here to view all references

Outcome

Type Measure Description Time frame Safety issue
Primary Changes in clinical characteristics of PKC relative to the baseline. 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). up to 10 years
Primary Changes in clinical characteristics of PKC over the last year. 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). up to 10 years
Primary Changes in medication history of PKC over the last year. 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. up to 10 years