Rare Diseases
Conditions
Keywords
Rare Diseases, Ataxia, Hereditary Spastic Spinal Paralysis, Neurodegeneration with Brain Iron Accumulation, Leukodystrophy, Dystonia, Atypical Parkinsonism, Huntington's Disease, Chorea Huntington, European Reference Network on Rare Neurological Diseases, Frontotemporal Dementia
Brief summary
The recent implementation of European Reference Networks for Rare Diseases (ERNs) is an unprecedented move to improve the care of patients suffering from rare health disorders by transnational collaboration. ERN-RND, the ERN for Rare Neurological Diseases, oversees more than 35,000 patients in 31 specialist centers in 13 countries. The ERN-RND registry aims to gather information on patient cohorts in the multiple specialist centers and to provide an overview on patient numbers principally accessible for translational studies.
Detailed description
The ERN-RND (European Reference Network on Rare Neurological Diseases) Registry aims to establish a demographic platform for collection of relevant core patient information. This will be accomplished by the construction and implementation of a single data base encompassing all rare neurological diseases in pediatric and adult patients (the ERN-RND Registry), which will collect information according to the Set of common data elements for Rare Diseases Registration as it has been defined by the European Commission. The ERN-RND network covers the following six disease groups in patients of all age groups: (i) Ataxia and Hereditary Spastic Spinal Paralysis (HSP), (ii) Leukodystrophies, (iii) Frontotemporal Dementia, (iv) Dystonia, Paroxysmal Disorders and Neurodegeneration with Brain Iron Accumulation (NBIA), (v) Atypical Parkinsonism and (vi) Huntington's Disease & Choreas.
Interventions
OTHERData set as defined by the ERN Research Workgroup of the European Commission
The ERN-RND registry will be restricted to the minimum data set as defined by the ERN Research Workgroup of the European Commission. This includes the following data: * Name of specialist center * Pseudonym: * Date of birth: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of birth * Sex * Date of death: For confidentiality reasons the ERN-RND registry will restrict this information to the Year of death * Age of onset * Orphacode for specific rare disease: https://www.orpha.net/consor/cgi-bin/Disease\_Search.php?lng=DE * Online Mendelian Inheritance in Man (OMIM) code as defined for genetic diseases: https://www.omim.org/ * Human Phenotype Ontology (HPO) terms for key features: https://hpo.jax.org/app/ * Agreement to be contacted for research purposes: Yes/No * Biological samples (Yes / No) * Link to a biobank (Link / No) * Classification of disability (Disease group specific score)
Sponsors
University Hospital Tuebingen
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
Patients suffering of one of the rare neurological diseases indicated below or probands who are at risk to develop such a disease since they are first degree relatives of patients affected by a RND including: * Ataxia and HSP * Leukodystrophies * Frontotemporal Dementia * Dystonia, Paroxysmal Disorders and Neurodegeneration with Brain Iron Accumulation (NBIA) * Atypical Parkinsonism * Huntington's Disease & Choreas
Exclusion criteria
• Missing informed consent of the patient and/ or their parents
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Representative cohorts of RND patients | Day 1 | The register study aims to compile representative cohorts of RND patients and provide demographic data for the planning of translational studies. As all of the index diseases are rare the primary goal is to reach as large cohorts as possible. |
Contacts
Primary ContactLudger Schöls, Prof. Dr.
Backup ContactIngeborg Krägeloh-Mann, Prof. Dr.
Outcome results
None listed