Rare DiseasesERN-RND regNCT04319796
European Registry on Rare Neurological Diseases
An observational study of Rare Diseases, run by University Hospital Tuebingen.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases
- What is being tested?
- Data set as defined by the ERN Research Workgroup of the European Commission
- How many people
- 5,000 participants
- Where
- No sites listed yet
- Study dates
- Oct 2021to Dec 2025
- How long will I take part?
- 25 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Missing informed consent of the patient and/ or their parents
Trial locations and contacts
No sites are listed yet.
Ingeborg Krägeloh-Mann, Prof. Dr. contact
About this study
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.
Read the 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.
- Conditions
- Rare Diseases
- Being tested
- Data set as defined by the ERN Research Workgroup of the European Commission
- Keywords
- 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
- Medical subject headings
- Rare Diseases, Ataxia, Pantothenate Kinase-Associated Neurodegeneration, Dystonia, Huntington Disease, Chorea, Frontotemporal Dementia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Data set as defined by the ERN Research Workgroup of the European CommissionOther
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 group | Role | What they receive |
|---|---|---|
| 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). Receives: 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. Receives: 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. Receives: 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. Receives: 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. Receives: 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. Receives: Other: Data set as defined by the ERN Research Workgroup of the European Commission |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Mar 2020
- Study startOct 2021 (estimated)
- Primary completionNov 2025 (estimated)
- Study completionDec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- More trials run by University Hospital TuebingenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 5,000 participants (estimated)
- Target duration
- 25 Years
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Prof. Dr. Ludger Schöls, University Hospital Tuebingen
- Investigators
- Ludger Schöls, Prof. Dr., Study director, University Hospital Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04319796
- Sponsor's protocol ID
- ERN-RND registry
- Acronym
- ERN-RND reg
- Status last verified
- Sep 2021
- First submitted
- 20 Mar 2020
- Last updated
- 29 Sep 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Study at a glance
From the registry record, last updated by the sponsor on 29 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- European Registry on Rare Neurological Diseases
- ClinicalTrials.gov ID
- NCT04319796
- Acronym / sponsor ID
- ERN-RND reg / ERN-RND registry
- Conditions
- Rare Diseases
- Keywords
- Rare Diseases, Ataxia, Hereditary Spastic Spinal Paralysis, Neurodegeneration with Brain Iron Accumulation, Leukodystrophy, Dystonia, Atypical Parkinsonism, Huntington's Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- Oct 2021 (estimated)
- Primary completion
- Nov 2025 (estimated)
- Study completion
- Dec 2025 (estimated)
- First posted
- 24 Mar 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 25 Years
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Ataxia & HSP | – | Other: Data set as defined by the ERN Research Workgroup of the European CommissionPatients 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 | – | Other: Data set as defined by the ERN Research Workgroup of the European CommissionPatients 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 | – | Other: Data set as defined by the ERN Research Workgroup of the European CommissionPatients 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 | – | Other: Data set as defined by the ERN Research Workgroup of the European CommissionPatients 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 | – | Other: Data set as defined by the ERN Research Workgroup of the European CommissionPatients 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 | – | Other: Data set as defined by the ERN Research Workgroup of the European CommissionPatients 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (7 listed)
- 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)
Key exclusion criteria (1 listed)
- Missing informed consent of the patient and/ or their parents
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Data set as defined by the ERN Research Workgroup of the European CommissionThe 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) | Other | Ataxia & HSP, Atypical Parkinsonism, Dystonia, Paroxysmal Disorders and Neurodegeneration with, Frontotemporal Dementia, Huntington's Disease & Choreas, Leukodystrophies |
Primary outcome
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Sep 2021.
- Individual participant dataSharing planned: Yes. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ingeborg Krägeloh-Mann, Prof. Dr. contact
Ludger Schöls, Prof. Dr. study director
University Hospital Tuebingen
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases, run by University Hospital Tuebingen.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 29 Sep 2021. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ludger Schöls, Prof. Dr. (+49 7071 29 ext. 82057, Ludger.schoels@uni-tuebingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Representative cohorts of RND patients (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Sep 2021.