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

August 24, 2021 updated by: Institut National de la Santé Et de la Recherche Médicale, France

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 Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

175

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 80 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

French population

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Collaborators

Assistance Publique - Hôpitaux de Paris

Investigators

  • Principal Investigator: Broussolle Emmanuel, MD, PhD, Hopitaux Civils de Lyon
  • Principal Investigator: Cyril Goizet, MD, Hôpitaux de Bordeaux
  • Principal Investigator: Patrick Calvas, MD, PhD, Hôpitaux de Toulouse

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 1, 2005

Primary Completion (Actual)

May 1, 2016

Study Completion (Actual)

May 1, 2020

Study Registration Dates

First Submitted

August 25, 2005

First Submitted That Met QC Criteria

August 26, 2005

First Posted (Estimate)

August 29, 2005

Study Record Updates

Last Update Posted (Actual)

August 25, 2021

Last Update Submitted That Met QC Criteria

August 24, 2021

Last Verified

August 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RBM01-59 _ AOM03059

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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