TIRCON International NBIA Registry

Study Overview
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Brief Summary
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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

Detailed Description
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The TIRCON international patient registry and natural history study for patients with Neurodegeneration Associated with Brain Iron Accumulation (NBIA) was initiated and funded for the first four years by TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), an international consortium supported by the European Union between November 1st 2011 and October 31st, 2015. Since then, the registry has been sustained through donations form Patient Organizations and industry. Harmonization of existing data has been performed by establishing and applying matching and transformation rules. The web-based registry is now fully functional for a critically needed natural history study of all NBIA subtypes. A focus has been set on scores that are most appropriate to reflect stage and progression of disease, e.g. the Barry Albright Dystonia scale, the Patient´s Global Impression of Improvement (PGII), the Unified Parkinson Disease Rating Scale (UPDRS; parts I-III and VI) and quality-of-life scores. The natural history data are collected yearly, or in rapidly progressing cases every six months, if applicable. Patients who present to one of our centers are eligible after informed consent to participate.

Official Title
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TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study

Conditions
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Neurodegeneration 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 Syndrome, Neuroferritinopathy, Aceruloplasminemia, Woodhouse Sakati Syndrome, COASY Protein-associated Neurodegeneration (CoPAN), PLA2G6-Associated Neurodegeneration (PLAN)

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: suspected or confirmed NBIA willingness to participate Exclusion Criteria: unwillingness to participate
Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| NBIA Patients<br>Patients with suspected or confirmed NBIA | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death. | 
| 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). | The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death. | 
| 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). | The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death. | 
| Disease progression | Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit. | The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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NBIA, PKAN, BPAN, MPAN, FAHN, KRS, CoPAN, PLAN,