Clinical trial NCT04319796: European Registry on Rare Neurological Diseases
Official title: European Registry on Rare Neurological Diseases
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Rare Diseases
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
Lead sponsor: University Hospital Tuebingen
Sponsor class: OTHER
First posted: 2020-03-24
Enrollment: 5000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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

Primary outcomes:
measure: Representative cohorts of RND patients
timeFrame: Day 1
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
affiliation: University Hospital Tübingen
name: Ludger Schöls, Prof. Dr.
role: STUDY_DIRECTOR
References: