European Registry on Rare Neurological Diseases
ERN-RND reg
1 other identifier
observational
5,000
0 countries
N/A
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Oct 2021
Longer than P75 for all trials
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
March 20, 2020
CompletedFirst Posted
Study publicly available on registry
March 24, 2020
CompletedStudy Start
First participant enrolled
October 1, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
November 1, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2025
CompletedSeptember 29, 2021
September 1, 2021
4.1 years
March 20, 2020
September 28, 2021
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
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
Study Arms (6)
Ataxia & HSP
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).
Leukodystrophies
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.
Frontotemporal Dementia
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.
Dystonia, Paroxysmal Disorders and Neurodegeneration with
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.
Atypical Parkinsonism
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.
Huntington's Disease & Choreas
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.
Interventions
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)
Eligibility Criteria
Patients suffering of one of the rare neurological diseases indicated according to the inclusion criteria or probands who are at risk to develop such a disease since they are first degree relatives of patients affected by a RND. Patients visiting in Tübingen, Germany the specialist center Department of Neurology and/ or the Department of Neuropediatric Diseases at the University Hospital.
You may qualify if:
- 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
You may not qualify if:
- Missing informed consent of the patient and/ or their parents
Contact the study team to confirm eligibility.
Sponsors & Collaborators
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Ludger Schöls, Prof. Dr.
University Hospital Tübingen
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 25 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Clinical Professor
Study Record Dates
First Submitted
March 20, 2020
First Posted
March 24, 2020
Study Start
October 1, 2021
Primary Completion
November 1, 2025
Study Completion
December 1, 2025
Last Updated
September 29, 2021
Record last verified: 2021-09
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- ANALYTIC CODE
- Time Frame
- Data will become available after analysis and unlimited.
- Access Criteria
- Authorized users within the participating organizations.
The full pseudonymised dataset will be exported once a year as an Excel file that is made accessible in an encrypted form to the coordinators of each specialist center who contribute to the ERN-RND registry. To this end the encrypted dataset will be provided in a specific folder of the Hertie Institute for Clinical Brain Research Tübingen, Germany (HIH) cloud for a limited amount of time (one week). Coordinators of all ERN-RND health care providers will get access to this folder to download the encrypted file. In addition, they will receive a password that enables decryption of the file. Each coordinator needs to confirm a priori with its local institutional review board the issues of data storage. This is part of the local project plan, patient information and consent that is premise for data entry. This procedure enables each center who contributes data to consider studies of their special interest within the ERN.