Registries

ERN-RND centres either coordinate or contribute to the RND registries as listed below.

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	Progressive ataxia Disease onset after the age of 40 years 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) 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; nomalignancies; 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 exceptabnormalities compatible with MSA Laboratory: Negative molecular genetic testing for FRDA (only required if there is nocerebellar atrophy on MRI, SCA1, SCA2, SCA3, SCA6, FMR1 premutation (onlyrequired if prominent tremor, cognitive impairment or signal abnormality on T2/FLAIRimages in the middle cerebellar peduncle); antineuronal antibodies negative (onlyrequired, if disease duration less than 3 years); normal levels of vitamin B12;VDRL negative; normal thyreoid function		European	DZNE
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
SCA Registry	Thomas Klockgether	Spinocerebellar ataxias (SCA)	Study natural history, Develop biomarkers, Identify genetic modifyers	HCP	SCA Mutation (any genotype) Risk Person for SCA	17	European	JPND
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.

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

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. 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. 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 Klopstock	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: are affected by FTLD±ALS according to the international diagnosis criteria and Have (or their legal representatives have) given signed written informed consent for the research. are affiliated to the french régime de sécurité sociale Relatives and healthy volunteers are included if they: are aged <18 years and Have signed an informed consent for the research. 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; family 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