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
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.
Study Type
OBSERVATIONAL
Enrollment
2,000
Children's Hospital of Eastern Ontario, Division of Neurology, Department of Pediatrics
Ottawa, Canada
RECRUITINGCharles University, Department of neurology
Prague, Czechia
RECRUITINGLMU Klinikum, Friedrich-Baur-Institute
Munich, Bavaria, Germany
RECRUITINGThe Foundation of the Carlo Besta Neurological Institute, IRCCS
Milan, Italy
RECRUITINGUniversity medical Center Groningen (UMCG) Department of Neurology AB 51
Groningen, Netherlands
RECRUITINGThe Childrens Memorial Health Institute
Warsaw, Poland
RECRUITINGUniversity of Belgrade, Department of Movement Disorders and Degenerative Brain Diseases
Belgrade, Serbia
RECRUITINGHospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorders
Barcelona, Spain
ACTIVE_NOT_RECRUITINGHospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología
Barcelona, Spain
ACTIVE_NOT_RECRUITINGChange 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.
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.
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.
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.
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