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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified January 2012 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was:  Recruiting
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France Identifier:
First received: March 10, 2010
Last updated: September 26, 2012
Last verified: January 2012

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.

Parkinson's Disease

Study Type: Observational
Study Design: 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.

Resource links provided by NLM:

Further study details as provided by Institut National de la Santé Et de la Recherche Médicale, France:

Estimated Enrollment: 50
Study Start Date: April 2008
Patients carrier of a LRRK2 mutation
Asymptomatic relatives of LRRK2 patients


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01085227

Contact: Alexis BRICE, MD +331 42 16 21 82

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
  More Information

Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France Identifier: NCT01085227     History of Changes
Other Study ID Numbers: C06-16.1
2007-A00169-44 ( Registry Identifier: IDRCB )
Study First Received: March 10, 2010
Last Updated: September 26, 2012

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
Parkinson's disease
asymptomatic carriers

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases processed this record on August 22, 2017