Ignite Creation Date:
2024-05-05 @ 11:47 AM
Last Modification Date:
2024-10-26 @ 9:13 AM
Study NCT ID:
NCT00136630
Status:
COMPLETED
Last Update Posted:
2021-08-25
First Post:
2005-08-25
Brief Title:
Natural History Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
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:
Natural History Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
Status:
COMPLETED
Status Verified Date:
2021-08
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:
None
Brief Summary:
The autosomal dominant spinocerebellar degenerations are a highly heterogeneous clinically and genetically group of rare diseases and of severe evolution So far the responsible genes for less than 50 of the cases are known and because of their rarity there are no phenotype-genotype correlations and well-defined disease history
The aims of the project are to develop and validate quantitative tools of the cerebellar syndrome and of the spasticity to establish links between the phenotype and the result of the molecular analysis to identify new locigenes responsible for these disorders and to establish the natural history of the disease according to the genotype
To this end a prospective and multicentric study is proposed for recruiting and evaluating clinically a cohort of 225 patients 150 of them are already followed-up in the centers involved A DNA collection will be set up in order to search for the implication of new loci and genes A clinico-genetic database will be set up combining data from successive clinical evaluations and those of genotyping
This strategy will allow access to genetic counselling and molecular diagnosis positive presymptomatic or prenatal diagnoses based on a rational strategy from phenotype-genotype correlations and the information concerning the relative frequency of the genes The detailed description with the help of new evaluation tools and of the follow-up of the natural history of the disease according to the genotype constitutes a crucial step in the design of therapeutical trials in these orphan disorders Furthermore the regular follow-up by specialized centers will allow better care of the patients
The aims of the project are to develop and validate quantitative tools of the cerebellar syndrome and of the spasticity to establish links between the phenotype and the result of the molecular analysis to identify new locigenes responsible for these disorders and to establish the natural history of the disease according to the genotype
To this end a prospective and multicentric study is proposed for recruiting and evaluating clinically a cohort of 225 patients 150 of them are already followed-up in the centers involved A DNA collection will be set up in order to search for the implication of new loci and genes A clinico-genetic database will be set up combining data from successive clinical evaluations and those of genotyping
This strategy will allow access to genetic counselling and molecular diagnosis positive presymptomatic or prenatal diagnoses based on a rational strategy from phenotype-genotype correlations and the information concerning the relative frequency of the genes The detailed description with the help of new evaluation tools and of the follow-up of the natural history of the disease according to the genotype constitutes a crucial step in the design of therapeutical trials in these orphan disorders Furthermore the regular follow-up by specialized centers will allow better care of the patients
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