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Sponsors and Collaborators: |
Institut National de la Santé Et de la Recherche Médicale, France Assistance Publique - Hôpitaux de Paris |
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Information provided by: | Institut National de la Santé Et de la Recherche Médicale, France |
ClinicalTrials.gov Identifier: | NCT00136630 |
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.
Study Type: | Observational |
Study Design: | Prospective |
Official Title: | Natural History, Genetic Bases and Phenotype-Genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations |
Ages Eligible for Study: | 18 Years to 80 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Inclusion Criteria:
Exclusion Criteria:
Contact: Alexandra Dürr, MD, PhD | 0033142162182 | durr@ccr.jussieu.fr |
France | |
Hôpital Pitié-Salpêtrière | Recruiting |
Paris, France, 75013 | |
Contact: Alexandra Dürr, MD, PhD 0033142162182 durr@ccr.jussieu.fr | |
Principal Investigator: Alexandra Dürr, MD, PhD | |
Sub-Investigator: Bertrand Fontaine, MD, PhD | |
Sub-Investigator: Charles Dyuckaerts, MD, PhD | |
Hôpital Neurologique Pierre Wertheimer | Recruiting |
Lyon, France, 69003 | |
Contact: Emmanuel Broussolle, MD, PhD 0033472357607 emmanuel.broussolle@chu-lyon.fr | |
Principal Investigator: Emmanuel Broussolle, MD, PhD | |
Hôpital Carémeau | Recruiting |
Nîmes, France, 30000 | |
Contact: Pierre Labauge, MD, PhD 003466683263 labauge@hotmail.com | |
Principal Investigator: Pierre Labauge, MD, PhD | |
Hôpital Pellegrin | Recruiting |
Bordeaux, France, 33000 | |
Contact: Cyril Goizet, MD 0033556795646 cyril.goizet@chu-bordeaux.fr | |
Principal Investigator: Cyril Goizet, MD | |
CHU de Grenoble | Recruiting |
Grenoble, France, 38000 | |
Contact: Pierre Pollak, MD, PhD 0033476765791 pierre.pollak@ujf-grenoble.fr | |
Principal Investigator: Pierre Pollak, MD, PhD | |
Hôpital La Timone | Recruiting |
Marseille, France, 13005 | |
Contact: Jean-Philippe Azulay, MD, PhD 0033491386579 jean-philippe.azulay@mail.ap-hm.fr | |
Principal Investigator: Jean-Philippe Azulay, MD, PhD | |
Hôpital Charles Nicolle | Recruiting |
Rouen, France, 76000 | |
Contact: Didier Hannequin, MD, PhD 0033232888170 Didier.hannequin@chu-rouen.fr | |
Principal Investigator: Didier Hannequin, MD, PhD | |
Hôpital Purpan | Recruiting |
Toulouse, France, 31000 | |
Contact: Patrick Calvas, MD, PhD 0033561779055 calvas.p@chu-toulouse.fr | |
Principal Investigator: Patrick Calvas, MD, PhD |
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 |
Study ID Numbers: | AOM03059 |
Study First Received: | August 25, 2005 |
Last Updated: | October 16, 2007 |
ClinicalTrials.gov Identifier: | NCT00136630 |
Health Authority: | France: Ministry of Health |
dominant spinocerebellar degenerations new rate scales natural history molecular biology candidate genes |
Spinal Cord Diseases Paraplegia Central Nervous System Diseases Brain Diseases Neurodegenerative Diseases Dyskinesias Paralysis Cerebellar Ataxia Signs and Symptoms |
Heredodegenerative Disorders, Nervous System Genetic Diseases, Inborn Ataxia Neurologic Manifestations Cerebellar Diseases Cerebellar ataxia Spinocerebellar Degenerations Spinocerebellar Ataxias |
Nervous System Diseases |