Ignite Creation Date:
2024-05-06 @ 12:05 AM
Last Modification Date:
2024-10-26 @ 10:44 AM
Study NCT ID:
NCT01488461
Status:
COMPLETED
Last Update Posted:
2015-06-15
First Post:
2011-12-06
Brief Title:
Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias
Sponsor:
Assistance Publique - Hôpitaux de Paris
Organization:
Assistance Publique - Hôpitaux de Paris
Study Overview
Official Title:
Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias
Status:
COMPLETED
Status Verified Date:
2015-06
Last Known Status:
None
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:
ATAXIC
Brief Summary:
Congenital ataxias CA are rare non progressive diseases characterized by psychomotor retardation hypotonia followed by ataxia The presence of the molar tooth on MRI allowed to define Joubert syndrome a peculiar form of CA Apart from this group CA are mostly associated with cerebellar atrophy or hypoplasia without molar tooth on MRI CA are a clinically as well as genetically heterogeneous group of diseases Early-onset ataxias are progressive but may be difficult to distinguish from CA in the first years of the disease To date few genes responsible for CA have been identified ABC7 X-linked CA associated with sideroblastic anemia SLC9A6 X-linked CA associated with severe mental retardation autism and epilepsy GPR56 CA associated with polymicrogyria ATCAY pure CA in Cayman isolate the involvement of the ATCAY and ABC7 genes has never been assessed in a large cohort of CA patients
Primary objective
To assess the frequency of mutations of the ATCAY and ABC7 genes in patients affected with non Joubert congenital or early-onset ataxia
Secondary objective
To identify new loci andor genes responsible for CA To further describe the clinical phenotype of the CA and to assess the frequency of the various clinical types pure CACA associated with spasticity syndromic CA congenitalearly-onset CA sporadicfamilial CA
To describe the clinical phenotype of CA related to mutations in one of analysed genes
Primary objective
To assess the frequency of mutations of the ATCAY and ABC7 genes in patients affected with non Joubert congenital or early-onset ataxia
Secondary objective
To identify new loci andor genes responsible for CA To further describe the clinical phenotype of the CA and to assess the frequency of the various clinical types pure CACA associated with spasticity syndromic CA congenitalearly-onset CA sporadicfamilial CA
To describe the clinical phenotype of CA related to mutations in one of analysed genes
Detailed Description:
All patients will be examined by a geneticist or a neuropediatric All clinical data will be collected
Strategy of the molecular study
1 for all multiplex and consanguineous families a linkage analysis loci ATCAY and ABC7 and others AC known genes will be performed
2 For all sporadic patients as well as linked multiplex and consanguineous families sequencing of all coding exons of the gene ATCAY and others AC known genes
3 For all sporadic male patients and linked families sequencing of all coding exons of the gene ABC7
4 For all patients with suggestive features sequencing of all coding exons of the gene GPR56 VLDLR NHE6 or other candidate gene
5 In consanguineous families linkage analysis using SNP-array and analysis of candidate genes present in the regions of extended homozygosity
6 linkage analysis in dominant families and analysis of candidate genes in the linked regions
7 If a new AC locus is identified using linkage or CGH array this gene will be sequenced in all patients
Strategy of the molecular study
1 for all multiplex and consanguineous families a linkage analysis loci ATCAY and ABC7 and others AC known genes will be performed
2 For all sporadic patients as well as linked multiplex and consanguineous families sequencing of all coding exons of the gene ATCAY and others AC known genes
3 For all sporadic male patients and linked families sequencing of all coding exons of the gene ABC7
4 For all patients with suggestive features sequencing of all coding exons of the gene GPR56 VLDLR NHE6 or other candidate gene
5 In consanguineous families linkage analysis using SNP-array and analysis of candidate genes present in the regions of extended homozygosity
6 linkage analysis in dominant families and analysis of candidate genes in the linked regions
7 If a new AC locus is identified using linkage or CGH array this gene will be sequenced in all patients
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 |
|---|---|---|---|
| AOM 09178 | OTHER | Assistance Publique | None |