Ignite Creation Date:
2024-05-05 @ 10:20 PM
Last Modification Date:
2024-10-26 @ 10:17 AM
Study NCT ID:
NCT01085227
Status:
UNKNOWN
Last Update Posted:
2012-09-27
First Post:
2010-03-10
Brief Title:
Clinical Molecular and by Neuroimaging of LRRK2 Mutations
Sponsor:
Institut National de la Santé Et de la Recherche Médicale France
Organization:
Institut National de la Santé Et de la Recherche Médicale France
Study Overview
Official Title:
Clinical Molecular and by Neuroimaging Characterization of Monogenic Forms of Parkinsonism Syndromes Mutations of the LRRK2 Gene
Status:
UNKNOWN
Status Verified Date:
2012-01
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
LRRK2
Brief Summary:
Besides Parkinsons 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 LRRK2dardarin 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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2007-A00169-44 | REGISTRY | IDRCB | None |