Clinical, Molecular and by Neuroimaging of LRRK2 Mutations (LRRK2)
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ClinicalTrials.gov 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
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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 |
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Parkinson's Disease |
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 |

Group/Cohort |
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Patients carrier of a LRRK2 mutation |
Asymptomatic relatives of LRRK2 patients |

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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 |
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

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 ClinicalTrials.gov identifier (NCT number): NCT01085227
Contact: Alexis BRICE, MD | +331 42 16 21 82 | alexis.brice@upmc.fr |
France | |
CEA - Service Hospitalier Frédéric Joliot | Active, not recruiting |
Orsay, France, 91401 | |
Pitie-Salpetriere Hospital | Recruiting |
Paris, France, 75013 | |
Contact: BRICE alexis.brice@upmc.fr | |
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 |
Responsible Party: | Institut National de la Santé Et de la Recherche Médicale, France |
ClinicalTrials.gov 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 |
Parkinson's disease LRRK2 asymptomatic carriers |
Parkinson Disease Parkinsonian Disorders Basal Ganglia Diseases Brain Diseases |
Central Nervous System Diseases Nervous System Diseases Movement Disorders Neurodegenerative Diseases |