NCT05522374

TIRCON International NBIA Registry

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 2,000 (estimated)
• Sponsor: LMU Klinikum · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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

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.

Conditions

• 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)

Timeline

• Start date: 2012-06-14
• Primary completion: 2040-12-01
• Completion: 2040-12-01
• First posted: 2022-08-31
• Last updated: 2025-06-05

Locations

9 sites across 8 countries: Canada, Czechia, Germany, Italy, Netherlands, Poland, Serbia, Spain