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

University Hospital Tuebingen

Status: Not yet enrolling

Conditions: Rare Diseases

Treatments: Other: Data set as defined by the ERN Research Workgroup of the European Commission

Study type: Observational

Funder types: Other

Identifiers

NCT04319796

ERN-RND registry

Details and patient eligibility

About

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.

Full 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.

Enrollment: 5,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

5,000 participants in 6 patient groups

Ataxia & HSP

Description:

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).

Treatment:

Other: Data set as defined by the ERN Research Workgroup of the European Commission

Leukodystrophies

Description:

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.

Treatment:

Other: Data set as defined by the ERN Research Workgroup of the European Commission

Frontotemporal Dementia

Description:

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.

Treatment:

Other: Data set as defined by the ERN Research Workgroup of the European Commission

Dystonia, Paroxysmal Disorders and Neurodegeneration with

Description:

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.

Treatment:

Other: Data set as defined by the ERN Research Workgroup of the European Commission

Atypical Parkinsonism

Description:

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.

Treatment:

Other: Data set as defined by the ERN Research Workgroup of the European Commission

Huntington's Disease & Choreas

Description:

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.

Treatment:

Other: Data set as defined by the ERN Research Workgroup of the European Commission