European Registry on Rare Neurological Diseases

Study Overview
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Brief Summary
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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
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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.

Official Title
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European Registry on Rare Neurological Diseases

Conditions
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Rare Diseases

Intervention / Treatment
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* Other: Data set as defined by the ERN Research Workgroup of the European Commission


Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Ataxia & HSP<br>Patients suffering of Ataxia or HSP or probands who are at risk to develop such a disease since they are first degree relatives of patients affected by these Rare Neurological Disease (RND). | Other: Data set as defined by the ERN Research Workgroup of the European Commission<br>* 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)<br>|
| Leukodystrophies<br>Patients suffering of Leukodystrophies or probands who are at risk to develop such a disease since they are first degree relatives of patients affected by this RND. | Other: Data set as defined by the ERN Research Workgroup of the European Commission<br>* 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)<br>|
| Frontotemporal Dementia<br>Patients suffering of Frontotemporal Dementia or probands who are at risk to develop such a disease since they are first degree relatives of patients affected by this RND. | Other: Data set as defined by the ERN Research Workgroup of the European Commission<br>* 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)<br>|
| Dystonia, Paroxysmal Disorders and Neurodegeneration with<br>Patients suffering of Dystonia, Paroxysmal Disorders and Neurodegeneration with Brain Iron Accumulation (NBIA) or probands who are at risk to develop such a disease since they are first degree relatives of patients affected by these RND. | Other: Data set as defined by the ERN Research Workgroup of the European Commission<br>* 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)<br>|
| Atypical Parkinsonism<br>Patients suffering of Atypical Parkinsonism or probands who are at risk to develop such a disease since they are first degree relatives of patients affected by this RND. | Other: Data set as defined by the ERN Research Workgroup of the European Commission<br>* 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)<br>|
| Huntington's Disease & Choreas<br>Patients suffering of Huntington's Disease or Choreas or probands who are at risk to develop such a disease since they are first degree relatives of patients affected by these RND. | Other: Data set as defined by the ERN Research Workgroup of the European Commission<br>* 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)<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Representative cohorts of RND patients | 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. | Day 1 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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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