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Characteristics of Parkinson s Disease Associated With the LRRK-2 Gene Mutation

14 december 2019 bijgewerkt door: National Institute of Neurological Disorders and Stroke (NINDS)

Expanding the Phenotype of the LRRK-2 Mutation in Individuals With History of Parkinson s Disease and Their Relatives: a Prospective Study

This study will identify symptoms and other characteristics of Parkinson s disease that may be associated with changes in a gene called leucine-rich repeat kinase 2 (LRRK2). Changes in this gene have been found in patients with and without a family history of Parkinson s disease. This study will examine people with Parkinson s disease to try to identify how symptoms develop over time. First-degree relatives of patients will also be studied.

People 18 years of age or older with Parkinson s disease or people who have a first-degree relative with Parkinson s disease may be eligible for this study.

Participants visit the NIH Clinical Center every other year for 10 years for some or all of the procedures listed below. Each visit requires 3-4 days of testing, which may be done on an inpatient or outpatient basis. Telephone interviews are conducted during the alternate years.

History and physical examination.
Smell testing: Subjects are asked to identify 40 different scents.
Sensory testing: Objects with grooves and ridges are touched to subjects fingertips. With their eyes closed, the subjects are asked to say which way the grooves and ridges run on the objects.
Neuropsychological evaluation: Subjects are asked about their memory and thinking and may be asked to complete some pen and paper tests.
Psychiatric evaluation: Subjects are asked about psychiatric symptoms, including anxiety and depression.
Blood drawing: Blood is drawn through a needle in the arm.
Magnetic imaging resonance (MRI) scans of the brain: MRI uses a strong magnetic field and radio waves to obtain images of body organs and tissues. During the test, subjects lie on a table that can slide in and out of the MRI scanner (a metal cylinder surrounded by a strong magnetic field). The procedure lasts about 30 minutes, during which the subjects may be asked to lie still for up to 5 minutes at a time.
Transcranial sonography (TCS): TCS uses sound waves to obtain images of the brain. Subjects lie on their back and an ultrasound device is moved around the scalp.
Sleep study (1-2 night hospital admission): Subjects brain waves are recorded during sleep using electroencephalography (EEG). Their breathing rate, pulse and oxygen level are also monitored.
Questionnaire: Subjects complete several questionnaires designed to obtain information on symptoms or traits that have been reported to be associated with Parkinson s disease.

Studie Overzicht

Toestand

Beëindigd

Conditie

Ziekte van Parkinson

Gedetailleerde beschrijving

Parkinson s disease is a common neurological condition that was originally thought to develop from environmental factors. More recently, genetic factors have been implicated. In this study, we are interested in studying the phenotypic presentation of patients with Parkinson s disease due to a specific defect in a gene called the Leucine rich repeat kinase 2 gene (LRRK2) found in some patients with Parkinson s disease. In addition, we plan to study family members whose genetic status is unknown to develop a pre-clinical description of Parkinson s disease progression.

OBJECTIVE:

To develop a pre-clinical description in first-degree family members of patients with Parkinson s disease who have the LRRK2 mutation. The first-degree relative may or may not carry the LRRK2 mutation.
To phenotypically characterize Parkinson s disease patients who have the LRRK2 mutation.

STUDY POPULATION:

200 adult subjects including:

Patients with a diagnosis of PD due to LRRK2 mutation
First degree family members of patients with PD who have the LRRK2 mutation.

DESIGN:

This will be a longitudinal prospective natural history study.

OUTCOME MEASURES:

Pre-clinical signs of disease in first degree relatives of Parkinson s disease patients who have the LRRK2 mutation.
Characterization of a pre-clinical phenotype in first degree relatives of LRRK2 positive Parkinson s disease patients.
Progression of Parkinson s disease patients who have the LRRK2 mutation.
Genotypic characterization of first-degree relatives
RNA expression profile determination comparing mutation carriers to non-mutation carriers in search for early biomarkers

Studietype

Observationeel

Inschrijving (Werkelijk)

Contacten en locaties

In dit gedeelte vindt u de contactgegevens van degenen die het onderzoek uitvoeren en informatie over waar dit onderzoek wordt uitgevoerd.

Studie Locaties

Verenigde Staten
- Maryland
  - Bethesda, Maryland, Verenigde Staten, 20892
    - National Institutes of Health Clinical Center, 9000 Rockville Pike

Deelname Criteria

Onderzoekers zoeken naar mensen die aan een bepaalde beschrijving voldoen, de zogenaamde geschiktheidscriteria. Enkele voorbeelden van deze criteria zijn iemands algemene gezondheidstoestand of eerdere behandelingen.

Geschiktheidscriteria

Leeftijden die in aanmerking komen voor studie

18 jaar en ouder (Volwassen, Oudere volwassene)

Accepteert gezonde vrijwilligers

Geslachten die in aanmerking komen voor studie

Allemaal

Beschrijving

INCLUSION CRITERIA:
1. Subjects at least 18 years of age.
2. Ability to provide consent or have appointed a Durable Power of Attorney able to provide consent.
3. Patients with a diagnosis of PD with a known LRRK2 mutation.
  OR
4. First degree relatives without a diagnosis of PD with a family history suggestive of inherited PD due to LRRK2 mutations.

EXCLUSION CRITERIA:

Subjects with a history of severe head injury, encephalitis, chronic use of drugs that cause parkinsonism or a clinical history of strokes.
For the magnetic resonance imaging (MRI), exclusion criteria include the following: pregnancy, pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pump, or shrapnel fragments. Patients will be screened for these conditions prior to having the MRI scan performed.

Studie plan

Dit gedeelte bevat details van het studieplan, inclusief hoe de studie is opgezet en wat de studie meet.

Hoe is de studie opgezet?

Ontwerpdetails

Medewerkers en onderzoekers

Hier vindt u mensen en organisaties die betrokken zijn bij dit onderzoek.

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Publicaties en nuttige links

De persoon die verantwoordelijk is voor het invoeren van informatie over het onderzoek stelt deze publicaties vrijwillig ter beschikking. Dit kan gaan over alles wat met het onderzoek te maken heeft.

Algemene publicaties

Studie record data

Deze datums volgen de voortgang van het onderzoeksdossier en de samenvatting van de ingediende resultaten bij ClinicalTrials.gov. Studieverslagen en gerapporteerde resultaten worden beoordeeld door de National Library of Medicine (NLM) om er zeker van te zijn dat ze voldoen aan specifieke kwaliteitscontrolenormen voordat ze op de openbare website worden geplaatst.

Bestudeer belangrijke data

Studie start

23 april 2007

Studie voltooiing

3 februari 2014

Studieregistratiedata

Eerst ingediend

26 april 2007

Eerst ingediend dat voldeed aan de QC-criteria

26 april 2007

Eerst geplaatst (Schatting)

27 april 2007

Updates van studierecords

Laatste update geplaatst (Werkelijk)

17 december 2019

Laatste update ingediend die voldeed aan QC-criteria

14 december 2019

Laatst geverifieerd