Working… Menu

Clinical, Molecular and by Neuroimaging of LRRK2 Mutations (LRRK2)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01085227
Recruitment Status : Unknown
Verified January 2012 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was:  Recruiting
First Posted : March 11, 2010
Last Update Posted : September 27, 2012
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France

Brief Summary:

Besides Parkinson's disease (PD), it exists rare parkinsonian syndromes clinically close to PD and that correspond to Mendelian entities. Autosomal dominant forms are mainly associated with mutations of alpha synuclein and LRRK2/dardarin genes, whereas autosomal recessive forms are due to mutations in Parkin, Pink1 and DJ-1 genes. This entities are still unknown on the clinical, genetic and metabolic " au plan ".

Throughout a national network of 15 specialized centres in movement disorders, coordinated by the team of the neurogenetics reference centre at the Pitié-Salpêtrière Hospital (Alexis Brice), we propose to precise the relative frequency, the molecular bases and abnormalities in functional neuroimaging associated with the LRRK2 gene mutations, the most frequently implicated in the autosomal dominant forms. Due to the relative rarity of this parkinsonian syndrome, we will perform at the same time a retrospective study in cases and families already collected by the national network (300 isolated cases and 300 families) and a prospective study. The network will recruit 100 isolated cases and 40 familial cases yearly, with precise diagnosis tools. The genetic analysis will evaluate the relative frequency of the LRRK2 mutations and their spectrum in the French population. Phenotype-genotype correlations will be performed to better orientate the molecular diagnosis, in order to improve the genetic counselling and reduce costs of these analyses. In the case of LRRK2 mutations, a genetic investigation will be proposed to the families, with a specific care to at-risk cases. A detailed phenotypic evaluation of patients and at-risk cases will be proposed (neurological, neuropsychiatric and behavioural) at the CIC Pitié-Salpêtrière and also in imaging, for 15 patients and 40 of their relatives (20 carriers and 20 non-carriers of the LRRK2 mutation). The TEP study will evaluate the dopaminergic function (fluorodopa capture) and will measure the dopamine transporter (DAT). The structural MRI evaluation will search for possible associated structural morphologic abnormalities. The functional MRI evaluation will search for dysfunction of motor circuit during the movement realisation. These examinations will be performed at two years of interval for appreciate the evolution of the disease. This study will allow to better characterize the parkinsonian syndromes due to LRRK2 mutations and also to better characterize the presymptomatic phase, which is subject to controversies in idiopathic PD. The feasibility of this project is assured by the expertise of the collaborative centres and by the inclusion of a retrospective cohort, combined to a prospective cohort, which will allow to recruit sufficient patients and at-risk relatives for a rare genetic entity.

Condition or disease
Parkinson's Disease

Layout table for study information
Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Clinical, Molecular and by Neuroimaging Characterization of Monogenic Forms of Parkinsonism Syndromes: Mutations of the LRRK2 Gene.
Study Start Date : April 2008

Resource links provided by the National Library of Medicine

Patients carrier of a LRRK2 mutation
Asymptomatic relatives of LRRK2 patients

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
French population

Inclusion Criteria:

  • To be over 18 years old
  • Diagnosis of Parkinson's disease
  • To be a first-degree relative to a LRRK2 patient
  • Ability to understand the aim of the study
  • Ability to sign the consent form

Exclusion Criteria:

  • Non ability to understand the aim of the study
  • Non ability to sign the consent form
  • Inability to do a MRI
  • Pregnant women or absence of an effective contraception

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01085227

Layout table for location contacts
Contact: Alexis BRICE, MD +331 42 16 21 82

Layout table for location information
CEA - Service Hospitalier Frédéric Joliot Active, not recruiting
Orsay, France, 91401
Pitie-Salpetriere Hospital Recruiting
Paris, France, 75013
Contact: BRICE   
Sub-Investigator: Alexandra DURR, MD, PhD         
Principal Investigator: Alexis BRICE, MD         
Sub-Investigator: Stéphane LEHERICY, MD, PhD         
Sub-Investigator: Jean-Christophe CORVOL, MD, PHD         
Sub-Investigator: Isabelle ARNULF, MD, PhD         
Sub-Investigator: Yves AGID, MD, PhD         
Sub-Investigator: Perrine CHARLES, MD, PhD         
Sub-Investigator: Mathieu ANHEIM, MD, PhD         
Sub-Investigator: Anne-Marie BONNET, MD         
Sub-Investigator: Marie VIDAILHET, MD         
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Layout table for additonal information
Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France Identifier: NCT01085227    
Other Study ID Numbers: C06-16.1
2007-A00169-44 ( Registry Identifier: IDRCB )
First Posted: March 11, 2010    Key Record Dates
Last Update Posted: September 27, 2012
Last Verified: January 2012
Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
Parkinson's disease
asymptomatic carriers
Additional relevant MeSH terms:
Layout table for MeSH terms
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases