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Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations

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ClinicalTrials.gov Identifier: NCT00136630
Recruitment Status : Unknown
Verified January 2012 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was:  Active, not recruiting
First Posted : August 29, 2005
Last Update Posted : January 31, 2012
Sponsor:
Collaborator:
Assistance Publique - Hôpitaux de Paris
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France

August 25, 2005
August 29, 2005
January 31, 2012
May 2005
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Complete list of historical versions of study NCT00136630 on ClinicalTrials.gov Archive Site
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Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations

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 loci/genes 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.

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Observational
Observational Model: Family-Based
Time Perspective: Prospective
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Non-Probability Sample
French population
  • Spinocerebellar Ataxias
  • Spastic Paraplegias
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Unknown status
225
Same as current
December 2012
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Inclusion Criteria:

  • Progressive ataxia or paraplegia,
  • Familial history of the disease (patients),
  • Over 18 years of age
  • No presentation of neurological or osteoarticular disorders

Exclusion Criteria:

  • Refusal to participate in the protocol,
  • An unknown familial history,
  • Presenting with an interrecurrent disorder making the evaluation of the disease (stroke, dementia) impossible
Sexes Eligible for Study: All
18 Years to 80 Years   (Adult, Older Adult)
Yes
Contact information is only displayed when the study is recruiting subjects
France
 
 
NCT00136630
RBM01-59 _ AOM03059
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Institut National de la Santé Et de la Recherche Médicale, France
Institut National de la Santé Et de la Recherche Médicale, France
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Alexandra Dürr, MD, PhD Assistance Publique - Hôpitaux de Paris
Principal Investigator: Broussolle Emmanuel, MD, PhD Hôpitaux Civils de Lyon
Principal Investigator: Pierre Labauge, MD, PhD Hôpitaux de Nîmes
Principal Investigator: Cyril Goizet, MD Hôpitaux de Bordeaux
Principal Investigator: Patrick Calvas, MD, PhD Hôpitaux de Toulouse
Principal Investigator: Jean-Philippe Azulay, MD, PhD Assistance Publique - Hôpitaux de Marseille
Principal Investigator: Didier Hannequin, MD, PhD Hôpitaux de Rouen
Principal Investigator: Pierre Pollak, MD, PhD Hôpitaux de Grenoble
Institut National de la Santé Et de la Recherche Médicale, France
January 2012