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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified January 2012 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was  Active, not recruiting
Sponsor:
Collaborator:
Assistance Publique - Hôpitaux de Paris
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier:
NCT00136630
First received: August 25, 2005
Last updated: January 27, 2012
Last verified: January 2012
  Purpose

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.


Condition Phase
Spinocerebellar Ataxias
Spastic Paraplegias
Phase 1

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations

Resource links provided by NLM:


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

Estimated Enrollment: 225
Study Start Date: May 2005
Estimated Study Completion Date: December 2012
  Eligibility

Ages Eligible for Study:   18 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

French population

Criteria

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
  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT00136630

Locations
France
Hôpital Pellegrin
Bordeaux, France, 33000
CHU de Grenoble
Grenoble, France, 38000
Hôpital Neurologique Pierre Wertheimer
Lyon, France, 69003
Hôpital La Timone
Marseille, France, 13005
Hôpital Carémeau
Nîmes, France, 30000
Hôpital Pitié-Salpêtrière
Paris, France, 75013
Hôpital Charles Nicolle
Rouen, France, 76000
Hôpital Purpan
Toulouse, France, 31000
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Assistance Publique - Hôpitaux de Paris
Investigators
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
  More Information

Additional Information:
Publications:

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier: NCT00136630     History of Changes
Other Study ID Numbers: RBM01-59 _ AOM03059
Study First Received: August 25, 2005
Last Updated: January 27, 2012
Health Authority: France: Ministry of Health

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
dominant spinocerebellar degenerations
new rate scales
natural history
molecular biology
candidate genes

Additional relevant MeSH terms:
Spinocerebellar Degenerations
Cerebellar Diseases
Cerebellar Ataxia
Ataxia
Paraplegia
Spinocerebellar Ataxias
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Paralysis
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on August 27, 2014