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

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ClinicalTrials.gov Identifier: NCT04319796
Recruitment Status : Not yet recruiting
First Posted : March 24, 2020
Last Update Posted : March 26, 2020
Sponsor:
Information provided by (Responsible Party):
Prof. Dr. Ludger Schöls, University Hospital Tuebingen

Tracking Information
First Submitted Date March 20, 2020
First Posted Date March 24, 2020
Last Update Posted Date March 26, 2020
Estimated Study Start Date May 2020
Estimated Primary Completion Date May 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 20, 2020)
Representative cohorts of RND patients [ Time Frame: 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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title European Registry on Rare Neurological Diseases
Official Title European Registry on Rare Neurological Diseases
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.

Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 25 Years
Biospecimen Not Provided
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.
Condition Rare Diseases
Intervention 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)
Study Groups/Cohorts
  • 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).
    Intervention: Other: Data set as defined by the ERN Research Workgroup of the European Commission
  • 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.
    Intervention: Other: Data set as defined by the ERN Research Workgroup of the European Commission
  • 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.
    Intervention: Other: Data set as defined by the ERN Research Workgroup of the European Commission
  • 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.
    Intervention: Other: Data set as defined by the ERN Research Workgroup of the European Commission
  • 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.
    Intervention: Other: Data set as defined by the ERN Research Workgroup of the European Commission
  • 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.
    Intervention: Other: Data set as defined by the ERN Research Workgroup of the European Commission
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Not yet recruiting
Estimated Enrollment
 (submitted: March 20, 2020)
5000
Original Estimated Enrollment Same as current
Estimated Study Completion Date September 2025
Estimated Primary Completion Date May 2025   (Final data collection date for primary outcome measure)
Eligibility Criteria

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

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Ludger Schöls, Prof. Dr. +49 7071 29 ext 82057 Ludger.schoels@uni-tuebingen.de
Contact: Ingeborg Krägeloh-Mann, Prof. Dr. +49 7071-29 ext 82340 ingeborg.kraegeloh-mann@med.uni-tuebingen.de
Listed Location Countries Not Provided
Removed Location Countries  
 
Administrative Information
NCT Number NCT04319796
Other Study ID Numbers ERN-RND registry
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Yes
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.
Supporting Materials: Analytic Code
Time Frame: Data will become available after analysis and unlimited.
Access Criteria: Authorized users within the participating organizations.
Responsible Party Prof. Dr. Ludger Schöls, University Hospital Tuebingen
Study Sponsor University Hospital Tuebingen
Collaborators Not Provided
Investigators
Study Director: Ludger Schöls, Prof. Dr. University Hospital Tübingen
PRS Account University Hospital Tuebingen
Verification Date March 2020