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Paroxysmal Kinesigenic ChoreoathetosisNCT04023656

Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea

An observational study of Paroxysmal Kinesigenic Choreoathetosis, run by Seoul National University Hospital at 1 site in South Korea.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial summary

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

Who is it for?
Ages 18 years and older
Conditions the study is for
Paroxysmal Kinesigenic Choreoathetosis
How many people
100 participants
Where
1 siteSouth Korea
Study dates
11 Nov 2016to 31 Dec 2026
How long will I take part?
10 Years
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

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.

Who may be able to join

  • 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

Who cannot join

  • 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

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Han-joon Kim, MD, Ph.D contact

+82-2-2072-1219

movement@snu.ac.kr

South Korea1 site, 1 recruiting

  • Seoul National University Hospital

    Seoul, 03080

    Han-joon Kim, MD, Ph.D, +82-2-2072-1219, movement@snu.ac.kr

    Han-joon Kim, MD, Ph.D

    Recruiting

Other trials in South Korea

About this study

Official title: Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study

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

Read the 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.

Keywords
paroxysmal kinesigenic choreoathetosis, Prognosis, Korean population
Medical subject headings
Familial paroxysmal dystonia

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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).

    Measured: up to 10 years

  2. 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).

    Measured: up to 10 years

  3. 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.

    Measured: up to 10 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted17 Jul 2019
  2. Study start11 Nov 2016
  3. Primary completion31 Dec 2026 (estimated)
  4. Study completion31 Dec 2026 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
100 participants (estimated)
Target duration
10 Years
IDs, dates and publications
ClinicalTrials.gov ID
NCT04023656
Sponsor's protocol ID
1611HJKim808
Status last verified
Jul 2019
First submitted
12 Jul 2019
Last updated
17 Jul 2019
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Undecided

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.

    PubMed 24661410

  • 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. No abstract available.

    PubMed 23535490

  • Castiglioni C, Lopez 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.

    PubMed 23182655

  • 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.

    PubMed 26598493

  • 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. doi: 10.1212/01.wnl.0000147298.05983.50.

    PubMed 15623687

  • 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.

    PubMed 21180566

  • 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. doi: 10.1212/wnl.54.1.125.

    PubMed 10636137

  • 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.

    PubMed 26598494

  • 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, Ptacek LJ. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25;55(2):224-30. doi: 10.1212/wnl.55.2.224.

    PubMed 10908896

  • Meneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Durr 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.

    PubMed 22744660

  • 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.

    PubMed 23077026

Questions about this trial

What is this clinical trial studying?

An observational study of Paroxysmal Kinesigenic Choreoathetosis, run by Seoul National University Hospital at 1 site in South Korea.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 17 Jul 2019. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in South Korea. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Han-joon Kim, MD, Ph.D (+82-2-2072-1219, movement@snu.ac.kr), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Changes in clinical characteristics of PKC relative to the baseline. (time frame: up to 10 years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04023656, which also lists 11 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Jul 2019.

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