The autosomal dominant spinocerebellar degenererations 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 is no phenotype-genotype correlations and disease history well defined.

The aims of the projects 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 of 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 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 the 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 constitute a crucial step in the design of therapeutical trials in these orphan disorders. Furthermore, the regular follow-up by specialized centers will allow a better care of the patients.

Condition	Phase
Spinocerebellar Ataxias Spastic Paraplegias	Phase I

Further Study Details: 

Expected Total Enrollment:  225

Ages Eligible for Study:  18 Years   -   80 Years,  Genders Eligible for Study:  Both

Accepts Healthy Volunteers

Criteria

Inclusion Criteria:

- progressive ataxia or paraplegia, familial history of the disease (patients), to be over 18 years of age, no presentation of a neurological or osteo-articulairy disorders (controls, 20 by range of age, from 20 to 70)

Exclusion Criteria:

- refusal of participating to the protocole, an unkown familial history, presenting an interrecurent disorder making impossible the evaluation of the disease (stroke, dementia)

Please refer to this study by ClinicalTrials.gov identifier  NCT00136630

Alexandra Dürr, MD, PhD      0033142162182    durr@ccr.jussieu.fr

France
      Hôpital Pitié-Salpêtrière, Paris,  75013,  France; Recruiting
      Hôpital Neurologique Pierre Wertheimer, Lyon,  69003,  France; Recruiting
      Hôpital Carémeau, Nîmes,  30000,  France; Recruiting
      Hôpital Pellegrin, Bordeaux,  33000,  France; Recruiting
      Hôpital Purpan, Toulouse,  31000,  France; Recruiting
      Hôpital La Timone, Marseille,  13005,  France; Recruiting
      Hôpital Charles Nicolle, Rouen,  76000,  France; Recruiting
      CHU de Grenoble, Grenoble,  38000,  France; Recruiting

Study chairs or principal investigators

Alexandra Dürr, MD, PhD,  Principal Investigator,  Assistance Publique - Hôpitaux de Paris   
Broussolle Emmanuel, MD, PhD,  Principal Investigator,  Hôpitaux Civils de Lyon   
Pierre Labauge, MD, PhD,  Principal Investigator,  Hôpitaux de Nîmes   
Cyril Goizet, MD,  Principal Investigator,  Hôpitaux de Bordeaux   
Patrick Calvas, MD, PhD,  Principal Investigator,  Hôpitaux de Toulouse   
Jean-Philippe Azulay, MD, PhD,  Principal Investigator,  Assistance Publique - Hôpitaux de Marseille   
Didier Hannequin, MD, PhD,  Principal Investigator,  Hôpitaux de Rouen   
Pierre Pollak, MD, PhD,  Principal Investigator,  Hôpitaux de Grenoble   

Study ID Numbers:  AOM03059
Last Updated:  August 29, 2005
Record first received:  August 25, 2005
ClinicalTrials.gov Identifier:  NCT00136630
Health Authority: France: Ministry of Health
ClinicalTrials.gov processed this record on 2005-08-30