European Registry on Rare Neurological Diseases (ERN-RND reg)

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Rare Diseases
• Intervention / Treatment: Other: Data set as defined by the ERN Research Workgroup of the European Commission

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.

• Study Type: Observational
• Enrollment (Anticipated): 5000

Contacts and Locations

• Study Contact: Name: Ludger Schöls, Prof. Dr.; Phone Number: 82057 +49 7071 29; Email: Ludger.schoels@uni-tuebingen.de
• Study Contact Backup: Name: Ingeborg Krägeloh-Mann, Prof. Dr.; Phone Number: 82340 +49 7071-29; Email: ingeborg.kraegeloh-mann@med.uni-tuebingen.de

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

6

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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).	Other: Data 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)
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.	Other: Data 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)
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.	Other: Data 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)
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.	Other: Data 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)
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.	Other: Data 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)
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.	Other: Data 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)

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: University Hospital Tuebingen
• Investigators: Study Director: Ludger Schöls, Prof. Dr., University Hospital Tübingen

Study record dates

Study Major Dates

• Study Start (Anticipated): October 1, 2021
• Primary Completion (Anticipated): November 1, 2025
• Study Completion (Anticipated): December 1, 2025

Study Registration Dates

• First Submitted: March 20, 2020
• First Submitted That Met QC Criteria: March 20, 2020
• First Posted (Actual): March 24, 2020

Study Record Updates

• Last Update Posted (Actual): September 29, 2021
• Last Update Submitted That Met QC Criteria: September 28, 2021
• Last Verified: September 1, 2021

More Information

Terms related to this study

• Keywords: Leukodystrophy; Rare Diseases; Huntington's Disease; Frontotemporal Dementia; Dystonia; Ataxia; Neurodegeneration with Brain Iron Accumulation; Atypical Parkinsonism; Hereditary Spastic Spinal Paralysis; Chorea Huntington; European Reference Network on Rare Neurological Diseases
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Nervous System Diseases; Rare Diseases
• Other Study ID Numbers: ERN-RND registry

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD Plan Description: 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.
• IPD Sharing Time Frame: Data will become available after analysis and unlimited.
• IPD Sharing Access Criteria: Authorized users within the participating organizations.
• IPD Sharing Supporting Information Type: Analytic Code

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No