European Registry on Rare Neurological Diseases

Not yet recruiting

• Conditions: Rare Diseases
• Interventions: Other: Data set as defined by the ERN Research Workgroup of the European Commission

• Registration Number: NCT04319796
• Lead Sponsor: 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.

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 Timeline

• Study First Submitted: 2020-03-20
• Study First Submitted QC: 2020-03-20
• Study First Posted: 2020-03-24
• Status Verified: 2021-09
• Last Update Submitted: 2021-09-28
• Last Update Posted: 2021-09-29
• Study Start: 2021-10
• Primary Completion: 2025-11
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 5000

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Dystonia, Paroxysmal Disorders and Neurodegeneration with	Data set as defined by the ERN Research Workgroup of the European Commission	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.
Ataxia & HSP	Data set as defined by the ERN Research Workgroup of the European Commission	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	Data set as defined by the ERN Research Workgroup of the European Commission	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	Data set as defined by the ERN Research Workgroup of the European Commission	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.
Atypical Parkinsonism	Data set as defined by the ERN Research Workgroup of the European Commission	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	Data set as defined by the ERN Research Workgroup of the European Commission	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.

Primary Outcome Measures

Name	Time	Method
Representative cohorts of RND patients	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.