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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
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

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.

Condition or disease Intervention/treatment
Rare Diseases 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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 5000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 25 Years
Official Title: European Registry on Rare Neurological Diseases
Estimated Study Start Date : May 2020
Estimated Primary Completion Date : May 2025
Estimated Study Completion Date : September 2025


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)




Primary Outcome Measures :
  1. 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.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04319796


Contacts
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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

Sponsors and Collaborators
University Hospital Tuebingen
Investigators
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Study Director: Ludger Schöls, Prof. Dr. University Hospital Tübingen
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Responsible Party: Prof. Dr. Ludger Schöls, Clinical Professor, University Hospital Tuebingen
ClinicalTrials.gov Identifier: NCT04319796    
Other Study ID Numbers: ERN-RND registry
First Posted: March 24, 2020    Key Record Dates
Last Update Posted: March 26, 2020
Last Verified: March 2020
Individual Participant Data (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.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Prof. Dr. Ludger Schöls, University Hospital Tuebingen:
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
Additional relevant MeSH terms:
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Rare Diseases
Nervous System Diseases
Disease Attributes
Pathologic Processes