Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias

NCT01488461 | Completed

• 2 other identifiers: NI 08034AOM 09178
• Study Type: observational
• Target: 165
• Locations: 1 country
• Sites: 1

Brief Summary

Congenital ataxias (CA) are rare, non progressive diseases, characterized by psychomotor retardation, hypotonia followed by ataxia. The presence of the "molar tooth" on MRI allowed to define Joubert syndrome, a peculiar form of CA. Apart from this group, CA are mostly associated with cerebellar atrophy or hypoplasia without molar tooth on MRI. CA are a clinically as well as genetically heterogeneous group of diseases. Early-onset ataxias are progressive but may be difficult to distinguish from CA in the first years of the disease. To date, few genes responsible for CA have been identified: ABC7 (X-linked CA associated with sideroblastic anemia), SLC9A6 (X-linked CA associated with severe mental retardation, autism and epilepsy), GPR56 (CA associated with polymicrogyria), ATCAY (pure CA in Cayman isolate); the involvement of the ATCAY and ABC7 genes has never been assessed in a large cohort of CA patients. Primary objective: To assess the frequency of mutations of the ATCAY and ABC7 genes in patients affected with non Joubert congenital or early-onset ataxia. Secondary objective: To identify new loci and/or genes responsible for CA To further describe the clinical phenotype of the CA and to assess the frequency of the various clinical types (pure CA/CA associated with spasticity/ syndromic CA, congenital/early-onset CA, sporadic/familial CA). To describe the clinical phenotype of CA related to mutations in one of analysed genes.

Conditions

Congenital Cerebellar Ataxias; Early-onset Cerebellar Ataxias

Keywords

Congenital cerebellar ataxias; Genetics; Gene ATCAY; Gene ABC7; Cerebellar atrophy

Outcome Measures

Primary Outcomes (1)

• Percentage of the patients with a mutation in one of the analysed genes.

  1 day

Secondary Outcomes (2)

• Percentage of patients with severe/moderate/mild/absent intellectual deficiency

  1 day

• Percentage of patients with/without epilepsy/spasticity/extraneurological features and nature and frequency of MRI anomalies

  1 day

Study Arms (1)

patients ataxic

Genetic: blood sample

Interventions

blood sample GENETIC

Blood sample will be analysed in order to check presence or not of mutation in ABC7, SLC9A6, GPR56, ATCAY.

patients ataxic

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All types

You may qualify if:

• Patient, child or adult, affected with a congenital or early-onset ataxia defined by:
• Neurological symptoms observed before age of 2 years.
• Non progressive cerebellar ataxia observed at the time of examination. Karyotype done or in progress

You may not qualify if:

• Metabolic disease
• Specific MRI malformations suggesting a peculiar entity : molar tooth (joubert syndrome), superior vermis dysplasia with cleft (Oligophrenin)
• Muscle weakness and elevated creatine phosphokinase (CPK)
• Clearly progressive ataxia.
• Absence of signature of the informed consent.
• Absence of affiliation to social security

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Trousseau, Service de Génétique

Paris, 75012, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Lydie Burglen, PhD

  Assistance Publique

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 6, 2011
• First Posted: December 8, 2011
• Study Start: January 1, 2012
• Primary Completion: October 1, 2014
• Study Completion: October 1, 2014
• Last Updated: June 15, 2015

Record last verified: 2015-06

Locations

FR (1)