TIRCON International NBIA Registry

Official title

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

Overview

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.

Primary outcome measures

• Change in Score on the Barry-Albright Dystonia (BAD) Scale [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 [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) [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 [Time frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.]

Eligibility criteria

Inclusion criteria

• suspected or confirmed NBIA
• willingness to participate

Exclusion criteria

• unwillingness to participate

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model

Cohort

Study locations

Spain · 2 centers

• Hospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorde — Barcelona
• Hospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología — Barcelona

Canada · 1 center

• Children's Hospital of Eastern Ontario, Division of Neurology, Department of Pediatrics — Ottawa

Czechia · 1 center

• Charles University, Department of neurology — Prague

Germany · 1 center

• LMU Klinikum, Friedrich-Baur-Institute — Munich

Italy · 1 center

• The Foundation of the Carlo Besta Neurological Institute, IRCCS — Milan

Netherlands · 1 center

• University medical Center Groningen (UMCG) Department of Neurology AB 51 — Groningen

Poland · 1 center

• The Childrens Memorial Health Institute — Warsaw

Serbia · 1 center

• University of Belgrade, Department of Movement Disorders and Degenerative Brain Diseases — Belgrade

Publications

• Kalman B, Lautenschlaeger R, Kohlmayer F, Buchner B, Kmiec T, Klopstock T, Kuhn KA. An international registry for neurodegeneration with brain iron accumulation. Orphanet J Rare Dis. 2012 Sep 17;7:66. doi: 10.1186/1750-1172-7-66. PMID 22985983
• Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmiec T, Buchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Kupper C, Neuhofer C, Kalman B, Dusek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E. Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-bl PMID 31202468
• Karin I, Buchner B, Gauzy F, Klucken A, Klopstock T. Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA). Front Neurol. 2021 Feb 22;12:642228. doi: 10.3389/fneur.2021.642228. eCollection 2021. PMID 33692746
• Iankova V, Karin I, Klopstock T, Schneider SA. Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders. Front Neurol. 2021 Apr 15;12:629414. doi: 10.3389/fneur.2021.629414. eCollection 2021. PMID 33935938

Identifiers

NCT: NCT05522374 · TIRCON-reg

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗