Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
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| ClinicalTrials.gov Identifier: NCT00136630 |
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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
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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 or disease |
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| Spinocerebellar Ataxias Spastic Paraplegias |
| Study Type : | Observational |
| Estimated Enrollment : | 225 participants |
| Observational Model: | Family-Based |
| Time Perspective: | Prospective |
| Official Title: | Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations |
| Study Start Date : | May 2005 |
| Estimated Study Completion Date : | December 2012 |
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| Ages Eligible for Study: | 18 Years to 80 Years (Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00136630
| 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 | |
| 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 |
Publications of Results:
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 |
| Other Study ID Numbers: |
RBM01-59 _ AOM03059 |
| First Posted: | August 29, 2005 Key Record Dates |
| Last Update Posted: | January 31, 2012 |
| Last Verified: | January 2012 |
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dominant spinocerebellar degenerations new rate scales natural history molecular biology candidate genes |
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Spinocerebellar Ataxias Spinocerebellar Degenerations Paraplegia Ataxia Dyskinesias Neurologic Manifestations Nervous System Diseases Cerebellar Ataxia |
Cerebellar Diseases Brain Diseases Central Nervous System Diseases Spinal Cord Diseases Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Genetic Diseases, Inborn Paralysis |