An observational study in Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN) and Beta-Propeller Protein-Associated Neurodegeneration (BPAN), sponsored by LMU Klinikum. Recruiting at 9 sites in 8 countries. Per ClinicalTrials.gov, last updated 2025-06-05.
Sponsored by LMU Klinikum · Observational
TIRCON-reg aims to
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.
LMU Klinikum is the lead sponsor of 53 studies on the registry; 20 are open to participants now.
Counted across the registry records on this site, refreshed daily.
children, adults, patients with limited decision-making capacity
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Patients with suspected or confirmed NBIA
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.
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.
Not enrolling at this site.
Not enrolling at this site.
Plan to share: Yes — Any data or requests from the project can be shared with researchers upon written request. Data sharing requires i) the approval by the respective scientific committee and ii) an approval by the institutional review board of the researcher on the intended project.
Supporting information: Informed consent form
Time frame: ime frame for data usage needs to be specified in the proposal for data sharing
Access criteria: Approved written proposal including description of the research plan and data usage purpose.
Started Jun 2012 (actual). Primary completion is estimated for Dec 2040, 342 months after the start.
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Pantothenate Kinase-Associated Neurodegeneration
LMU Klinikum