NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

Clinical Manifestations and Biorepository for Focal Dystonia

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

13-N-0085

Sponsoring Institute

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

Children

Special Instructions

Currently Not Provided

Keywords

Dystonia;
Cervical Dystonia;
Writer's Cramp;
Musician's Dystonia;
Blepharospasm;
Spasmodic Dysphonia;
Spasmodic Torticollis;
Biorepository

Recruitment Keyword(s)

None

Condition(s)

Cervical Dystonia;
Dystonia;
Writer's Cramp;
Musician's Dystonia;
Blepharospasm;
Spasmodic Torticollis;
Spasmodic Dysphonia;
Biorepository

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Neurological Disorders and Stroke

Background:

- Dystonia is a type of movement disorder. People who have this disorder often have frequent muscle contractions. Some people have dystonia of only one part of the body. Others have dystonia that affects many parts of the body. Sometimes dystonia runs in the family. Genetic changes may affect whether a person has dystonia and what type of dystonia they have. Researchers want to collect samples from people who have dystonia. This information will allow researchers to better understand the different types of dystonia.

Objectives:

- To collect clinical data and biological samples from people with dystonia.

Eligibility:

- Individuals at least 18 years of age who have primary dystonia.

Design:

- Participants will allow researchers to collect the following types of data from them:

- Medical records

- Questionnaires/interviews about medical and family history, thinking ability, mood, pain, daily living activities, and quality of life

- Neurological exam to test movement, including videotaping

- Blood samples

- Some participants may be asked to have follow-up visits with the study doctors. At these visits, they may provide additional samples or have other tests. A blood sample will only be needed at follow up visits if we did not get enough blood during the first visit.

--Back to Top--

Eligibility

INCLUSION CRITERIA:

Participants will be eligible if they

-Are 18 years of age or older

-Have primary dystonia

-Are able to give informed consent for themselves

-Have not had a botulinum toxin injection for at least 2 months or their injections took place earlier on the same day as their study visit

Participants with blepharospasm will be eligible for the Blepharospasm and Mimics substudy if they

-Have been diagnosed with Focal, Multifocal or Segmental Isolated Dystonia with Onset in Adulthood, that includes blepharospasm

-Have no evidence of a secondary cause for dystonia as defined as blepharospasm caused by drug exposure, parkinsonism, or stroke

-Have no suspicion of psychogenic movement or eye disorders

-Have had no surgical intervention for blepharospasm or eye problems that may confound interpretations, such as orbital myectomy, blepharoplasty, or deep brain stimulation surgery

-Are not being treated with dopamine receptor antagonists

-Had their last injection of botulinum toxin, if any, at least 10 weeks prior to study visit

-Are on stable doses of all medications for at least 1 month prior to the study visit.

-Are age 18 years or older

-Are sufficiently symptomatic at recruitment to ensure that eye problems are evident to investigators

-Have the ability to provide informed consent and follow study directions

-Have no significant medical or neurological conditions that preclude completing the video protocol and questionnaires

Participants who are disease controls will be eligible for the Blepharospasm and Mimics substudy if they

-Have been diagnosed with a facial or eye disorder that can be confused with blepharospasm, including, but not limited to, hemifacial spasm, facial tics, psychogenic facial disorders, apraxia, and ptosis due to weakness. These symptoms may be part of a disorder such as Bell s palsy, myasthenia gravis, or Progressive Supranuclear Palsy (PSP).

-Have no significant dystonia in any body part

-Have no evidence of secondary blepharospasm as defined as blepharospasm caused by drug exposure or stroke

-Had their last injection of botulinum toxin, if any, at least 10 weeks prior to study visit

-Are on stable doses of all medications for at least 1 month prior to the study visit.

-Are age 18 years or older

-Are sufficiently symptomatic at recruitment to ensure that eye problems are evident to investigators

-Have the ability to provide informed consent and follow study directions

-Have no significant medical or neurological conditions that preclude completing the video protocol and questionnaires

-Have no significant physical or other condition that would confound diagnosis or evaluation

Healthy volunteers will be eligible for the Blepharospasm and Mimics substudy if they

-Have no facial or eye problems, or neurological complaints affecting the cranial territory

-Are on stable doses of all medications for at least 1 month prior to the study visit.

-Are age 18 years or older

-Have ability to provide informed consent and follow study directions

-Have no significant medical or neurological conditions that preclude completing the video protocol and questionnaires

-Have no significant physical or other condition that would confound diagnosis or evaluation

EXCLUSION CRITERIA:

Participants will be excluded if they:

-Have a medical, neurological, physical, or other condition other than dystonia or tremor that would interfere with NIH s ability to see their dystonia on the study videotape.

-Have any condition that would make it difficult for a doctor to be sure of their diagnosis.


--Back to Top--

Citations:

Tarsy D, Scollins L, Corapi K, O'Herron S, Apetauerova D, Norregaard T. Progression of Parkinson's disease following thalamic deep brain stimulation for tremor. Stereotact Funct Neurosurg. 2005;83(5-6):222-7. Epub 2006 Mar 8.

Geyer HL, Bressman SB. The diagnosis of dystonia. Lancet Neurol. 2006 Sep;5(9):780-90.

Albanese A, Barnes MP, Bhatia KP, Fernandez-Alvarez E, Filippini G, Gasser T, Krauss JK, Newton A, Rektor I, Savoiardo M, Valls-Sol(SqrRoot)(Registered Trademark) J. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur J Neurol. 2006 May;13(5):433-44.

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

Mark Hallett, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)
BG 10 RM 7D37
10 CENTER DR
BETHESDA MD 20814
(301) 496-9526
hallettm@ninds.nih.gov

Elaine P. Considine, R.N.
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health
Building 10
Room 7D36
10 Center Drive
Bethesda, Maryland 20892
(301) 435-8518
considinee@ninds.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT01373424

--Back to Top--