Registries

Ataxias & HSP – HEREDITARY SPASTIC PARAPLEGIA

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.

Dystonia & NBIA – Neurodegeneration With Brain Iron Accumulation

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
DYSTONIA COALITION Dystonia

The Dystonia Coalition focused initially on the isolated dystonias (previously called primary dystonias) including cervical dystonia, spasmodic dysphonia, blepharospasm, craniofacial dystonia, generalized, and limb dystonias. Main clinical studies involve many clinical centers and focus on specific goals.

  1. Natural History Study of Isolated Dystonia. The goal of this study is to get a fuller understanding of how the different forms of dystonia may change over time. Patients with any of the isolated dystonias will be evaluated carefully at specific intervals to reveal any changes that may occur over time. A blood sample for the Biorepository for Isolated Dystonia will be collected from subjects in this Natural History study at the outset for genetic and other studies.
  2. Biorepository for Isolated Dystonia. The goal of this study is to build a large collection of DNA samples for genetic studies of patients with isolated dystonia.
HCP

Inclusion:
age >18 years old
one of the following types of isolated dystonia or have myoclonus dystonia or dopa-responsive dystonia
Cervical dystonia, Blepharospasm or craniofacial dystonia, Oromandibular dystonia, Spasmodic dysphonia, dystonia of the hand or foot (examples include writer’s cramp, musician’s dystonia, or other “occupational cramps”); Segmental dystonia (any combination of the above), generalized dystonia, hemi-dystonia

Exclusion:
age <18 years old
combined or complex dystonia (used to be called secondary)

40 European Office of Rare Diseases Research in the National Center for Advancing Translational Sciences and The National Institute of Neurological Disorders and Stroke (NINDS) at the NIH
DYSTRACT Dystonia Registry HCP All patients >18 years with isolated or combined dystonias 5 National BMBF
Dystonia Database Małgorzata Dec-Ćwiek Dystonia to collect data on dystonia patients HCP Inclusion: diagnosis of dystonia Local None
TIRCON registry Thomas Klockgether NBIA

FTD – FRONTOTEMPORAL DEMENTIA

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
GENFI J. Rohrer hereditary FTD Biomarker Patient, HCP familial FTD/ALS with mutations in C9orf72, MAPT, GRN, TBK1, VCP 20 European local
Internal research registry (BADN Database) Sylvie Forlani Frontotemporal lobar degeneration Cohort follow up HCP

Patients are included if they:

  1. are affected by FTLD±ALS according to the international diagnosis criteria and
  2. Have (or their legal representatives have) given signed written informed consent for the research.
  3. are affiliated to the french régime de sécurité sociale

Relatives and healthy volunteers are included if they:

  1. are aged <18 years and
  2. Have signed an informed consent for the research.
  3. are affiliated to the french régime de sécurité sociale
15 National NA
FTD local registry E.L.van der Ende FTD Prevalence, genetics, clinical research HCP FTD diagnosis Local None
DESCRIBE-FTD Anja Schneider FTD and FTD-overlap syndromes multimodal clinical, imaging, biomarker and genetic longitudinal cohort study HCP FTD and FTD-overlap syndromes 8 German DZNE
FTLD Consortium German

Leukodystrophy

Name of registry/database
Contact person
Condition(s)
Objective
Data entered by
Inclusion and exclusion criteria
Local/National/European
Funding/supporting organization
Leukodystrophy Database Joanna Pera leukodystrophies to collect data on patients with leukodystrophies HCP Inclusion: diagnosis of leukodystrophy with/without final genetic confirmation; famiy members if available
Exlusion: known inflammatory cause
Local None
Leukonet database for MLD and Krabbe PD Dr. Samuel Gröschel MLD and Krabbe natural history and following HSCT standardized dataset to describe the natural history and course followung stem cell transplantation; natural history data also availbale for other therapy trials HCP MLD and Krabbe biochemical diagnosis, genetic diagnosis if possible National BMBF
Vanishing White Matter Marjo S. van der Knaap Vanishing White Matter Natural history of VWM HCP molecular diagnosis of VWM European None
LBSL Marjo S. van der Knaap LBSL (Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Elevated Lactate) Natural History of LBSL HCP Genetic confirmation of LBSL European None
MLC Marjo S. van der Knaap Megalencephalic leukoencephalopathy with subcortical cysts Natural course of MLC HCP Genetically confirmed diagnosis of MLC European None
4H Nicole I. Wolf 4H leukodystrophy Natural history of 4H HCP genetically confirmed diagnosis of 4H European None
MLD Nicole I. Wolf Metachromatic Leukodystrophy Natural course and course after transplantation in MLD HCP genetically or biochemically confirmed diagnosis National None
Hypomyelination Nicole I. Wolf Hypomyelinating leukodystrophies To characterise clinical course and MRI characteristics in hypomyelination HCP MRI: hypomyelination National, European None
LEUKOFRANCE DATABASE Odile BOESPFLUG-TANGUY all type of leukodystrophies To characterise clinical course and MRI characteristics of leukodystrophies including the undetermined forms with different cohorts for HCP but patient entrance possible MRI: white matter abnormalities National (French centers) ELA no more
LEUKOTREAT (linked to LEUKOFRANCE database) Odile BOESPFLUG-TANGUY MLD, AxD, CACH, Krabbe Natural course connected molecular biology HCP molecular diagnosis European (Germany, Italy, France) FP7 program no more stop recruitment

Atypical Parkinson’s Disease

Name of registry/database
Contact person
Condition(s)
Objective
Data entered by
Inclusion and exclusion criteria
Number of entries from your site
Number of sites if multicentric
Local/National/European
Funding/supporting organization
ERN-RND centre providing the information
Person filling in the form
Database French MSA reference center (Bordeaux and Toulouse) Wassilios Meissner Multiple System Atrophy (MSA) Prospective Natural History Study HCP Clinical diagnosis of possible or probable MSA >450 2 National None Bordeaux and Toulouse Wassilios Meissner and Anne Pavy Le Traon
GLOMSAR Wassilios Meissner MSA Prospective Natural History Study and patient recruitment into clinical trials HCP Clinical diagnosis of MSA >15 European NIH and MSA Coalition Bordeaux Wassilios Meissner
BIOPARK Wassilios Meissner MSA, Progressive supranuclear palsy (PSP) and Parkinson's disease (PD) Prospective Fluid Biomarker Cohort HCP Clinical diagnosis of MSA, PSP or PD (for more details see NCT02114242) 75 3 Regional French Health Ministry Bordeaux Wassilios Meissner
DZNE Describe-PSP Günter Höglinger PSP Comprehensive Clinical Registry HCP Clinical diagnosis of PSP
ProPSP: a prospective cohort study of German and Luxemburg academic hospitals Günter Höglinger PSP
EMSA Registry Günter Höglinger MSA
Catalan multiple system atrophy-registry (CMSAR) M.J. Martí MSA
UK PSP registry Huw Morris PSP
UK CBD registry Huw Morris CBD