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TIRCON International NBIA Registry

ConditionsNeurodegeneration With Brain Iron Accumulation (NBIA)Pantothenate Kinase-associated Neurodegeneration (PKAN)Beta-Propeller Protein-Associated Neurodegeneration (BPAN)Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN)Kufor Rakeb SyndromeNeuroferritinopathyAceruloplasminemiaWoodhouse Sakati SyndromeCOASY Protein-associated Neurodegeneration (CoPAN)PLA2G6-Associated Neurodegeneration (PLAN)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorLMU Klinikum

About this trial

TIRCON-reg aims to

* continue the provision of a global registry and natural history study for NBIA disorders * harmonize and cover existing national and single site registries * enable participation of countries and single sites that so far have no access to an NBIA registry * join forces in order to recruit sufficient numbers of patients * define the natural history of NBIA disorders * define the most appropriate outcome measures * inform the design and facilitate the conduction of clinical trials

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

suspected or confirmed NBIA

willingness to participate

Disqualifiers

unwillingness to participate

Trial population

children, adults, patients with limited decision-making capacity

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

2,000 Participants
are grouped into 1 trial group
Group A: NBIA Patients

Trial outcomes

Primary outcomes

1

Change in Score on the Barry-Albright Dystonia (BAD) Scale

The Barry-Albright Dystonia Scale is an instrument for rating the severity of dystonia in eight body regions. The individual scores are summed to provide a total score that ranges from 0 to 32; the higher the score, the more severe the dystonia. Patients with dystonia are assessed for the change in total BAD score over time since Baseline.

Time frame
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
2

Change in Score on Unified Parkinson's Disease Rating (UPDRS) Scale, Part I-III, VI

The Unified Parkinson's Disease Rating Scale (UPDRS) is the major rating scale used to assess severity of symptoms of Parkinson's disease, some of which are similar to symptoms in NBIA. The UPDRS subscales used in this study are Part I: Mentation, Behavior and Mood, scored from 0 (best) to 16 (worst); Part II: Activities of Daily Living, scored from 0 (best) to 52 (worst); Part III: Motor Examination, scored from 0 (best) to 108 (worst); and Part VI: Schwab and England Activities of Daily Living Scale, scored from 0% (worst) to 100% (best).

Time frame
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
3

Change in Score on Pediatric Quality of Life (PedsQL)

The Pediatric Quality of Life (PedsQL) questionnaire is used to measure functional health and well-being from the patient's point of view. Separate versions of the questionnaire are available for children, young adults aged 18-25 years, and adults older than 25 years. Patients are asked to indicate how they have felt over the past month, and the scores of the 23 questions are used to generate an overall score that ranges from 0 (worst) to 100 (best).

Time frame
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
4

Disease progression

Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit.

Time frame
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

LMU Klinikum

Lead sponsor

Seventh Framework Programme

Collaborator

NBIA Alliance

Collaborator

Source ClinicalTrials.gov
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