Registries – Cerebellar Ataxia

Name of registry/database
Contact person
Condition(s)
Objective
Data entered by
Inclusion and exclusion criteria
Number of sites if multicentric
Local/National/European
Funding/supporting organization
SPORTAX Thomas Klockgether Sporadic ataxia Study natural history Develop biomarkers Explore genetic and immunological basis HCP
  1. Progressive ataxia
  2. Disease onset after the age of 40 years
  3. Informative and negative family history (no similar disorders in first- and second-degree relatives; parents older than 50 years, or, if not alive, age at death of more than 50 years, no consanguinity of parents)
  4. No established acquired cause of ataxia

Clinical: No onset of ataxia in association with stroke, encephalitis, sepsis, hyperthermia or heat stroke; no chronic diarrhea; no unexplained visual loss; no alcohol abuse; no chronic intake of anticonvulsant drugs; no other toxic causes; no malignancies; no rapid progression (development of severe ataxia in less than 12 weeks); no insulin-dependent diabetes mellitus

Imaging: No evidence of multiple sclerosis, ischemia, hemorrhage or tumor of the posterior fossa; absence of signal abnormalities on T2/FLAIR-images except abnormalities compatible with MSA

Laboratory: Negative molecular genetic testing for FRDA (only required if there is no cerebellar atrophy on MRI, SCA1, SCA2, SCA3, SCA6, FMR1 premutation (only required if prominent tremor, cognitive impairment or signal abnormality on T2/FLAIR images in the middle cerebellar peduncle); antineuronal antibodies negative (only required, if disease duration less than 3 years); normal levels of vitamin B12; VDRL negative; normal thyreoid function

European DZNE
SCA Registry Thomas Klockgether Spinocerebellar ataxias (SCA) Study natural history, Develop biomarkers, Identify genetic modifyers HCP
  1. SCA Mutation (any genotype)
  2. Risk Person for SCA
17 European JPND
EFACTS Jörg B. Schulz (Aachen) Friedreich's Ataxia

This is a multi-centre, multi-national, prospective, observational study of Friedreich's Ataxia (FRDA) with a control group to:

  • obtain natural history data on individuals affected by FRDA
  • relate clinical assessments and results from proteomic analyses
  • expedite identification and recruitment of participants for clinical trials
  • develop and validate sensitive and reliable outcome measures for detecting onset and change over the natural course of FRDA which may also be potential outcome measures for use in future clinical trials and clinical care
  • plan for future research studies
HCP

Inclusion Criteria:

  • Genetic diagnosis of FRDA
  • For control research participants: genetically confirmed absence of FRDA

Exclusion Criteria:

  • no signed informed consent form
  • no social security
  • already included in another clinical trial
  • deprived of their liberty
  • local anaesthesic contraindications (for biopsy)
European European Friedreich's Ataxia Consortium for Translational Studies
SPATAX database Pr Alexandra DURR Cerebellar ataxias and spastic paraplegias Cohort follow-up HCP Cerebellar ataxias and/or spastic paraplegias suspected >50 European None
Hereditary ataxias Josep Gamez hereditary ataxias and related disorders A epidemiological survey of hereditary ataxias in Catalonia HCP adult onset ataxias Local None
EOA-early onset Ataxia registry Matthis Synofzik early onset ataxia and autosomal-recessive ataxias To assess phenotypic characteristics and progression of disease in patients with early onset ataxia and autosomal-recessive ataxias in a prospective natural history study; and to unravel the genetic molecular diagnosis in so far unsolvedearly-onset ataxia patients. HCP Inclusion:
Patients with ataxia onset <40 years, a sporadic or autosomal-recessive family history, without transmission in 2 generations; and no evidence for a secondary ataxia; a recessive ataxia mutation may already have been identified
25 international DZNE
Paraplegias Dr. Josep Gamez Neurology Department, Hospital Universitary Vall d' Hebron. Barcelona. Spain. Hereditary paraplegias An epidemiological survey hereditary paraplegias in Catalonia HCP Adult paraplegias (>18 years old) Local None
HSP Registry Rebecca Schüle HSP, PLS and Spastic Ataxia Multicenter, prospective observational natural history study HCP clinical or genetic diagnosis of HSP 11 European BMBF, DZNE, HSP-Selbsthilfegruppe e.v.

Other registries

Friedreich Ataxia Studies
EuroFA - European Friedreich Ataxia Registry (EFACTS)

Spinocerebellar Ataxia Studies
EuroSCA - European Spinocerebellar Ataxia Registry
RISCA - Prospective Study of Individuals at Risk for Spinocerebellar Ataxia

Other Ataxia Studies
SPORTAX - Sporadic Degenerative Ataxia Registry
EOA - Early Onset Ataxia Registry
Hereditary Ataxia (Spain)