TIRCON International NBIA Registry

NCT ID: NCT05522374

Last Updated: 2025-06-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

2000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-06-14

Study Completion Date

2040-12-31

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.

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)

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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NBIA Patients

Patients with suspected or confirmed NBIA

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* suspected or confirmed NBIA
* willingness to participate

Exclusion Criteria

* unwillingness to participate
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Seventh Framework Programme

OTHER

Sponsor Role collaborator

NBIA Alliance

UNKNOWN

Sponsor Role collaborator

LMU Klinikum

OTHER

Sponsor Role lead

Responsible Party

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Prof. Thomas Klopstock

Prof. Dr. med.

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Thomas Klopstock, Prof. Dr.

Role: PRINCIPAL_INVESTIGATOR

LMU Klinikum, Friedrich-Baur-Institute

Locations

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

Ottawa, , Canada

Site Status RECRUITING

Charles University, Department of neurology

Prague, , Czechia

Site Status RECRUITING

LMU Klinikum, Friedrich-Baur-Institute

Munich, Bavaria, Germany

Site Status RECRUITING

The Foundation of the Carlo Besta Neurological Institute, IRCCS

Milan, , Italy

Site Status RECRUITING

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

Groningen, , Netherlands

Site Status RECRUITING

The Childrens Memorial Health Institute

Warsaw, , Poland

Site Status RECRUITING

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

Belgrade, , Serbia

Site Status RECRUITING

Hospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorders

Barcelona, , Spain

Site Status ACTIVE_NOT_RECRUITING

Hospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología

Barcelona, , Spain

Site Status ACTIVE_NOT_RECRUITING

Countries

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Canada Czechia Germany Italy Netherlands Poland Serbia Spain

Central Contacts

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Boriana Büchner, Dr.

Role: CONTACT

+49 89 4400 ext. 57067

Almut Bischoff

Role: CONTACT

+49 89 4400 ext. 57066

Facility Contacts

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Sunita Venkateswaran, MD,Ass.Prof.

Role: primary

+1 613-737-7600 ext. 1605

Petr Dušek, MU Dr. PhD

Role: primary

+42 22496 ext. 5528

Thomas Klopstock, Prof. Dr.

Role: primary

+49 89 4400 ext. 57421

Almut Bischoff

Role: backup

+49 89 4400 ext. 57066

Giovanna S. Zorzi, Dr.

Role: primary

+39 02 2394 ext. 2210

Nardo Nardocci, Dr.

Role: backup

Marina AJ de Koning-Tijssen, Prof. Dr.

Role: primary

+31-50-361 ext. 2400

Tomasz Kmiec, Prof. Dr.

Role: primary

Marina Svetel, Prof. Dr.

Role: primary

+381 11 366 ext. 3409

Iva Stankovic, Dr.

Role: backup

+381 11 306 ext. 4239

References

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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.

Reference Type BACKGROUND
PMID: 22985983 (View on PubMed)

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-blind, controlled trial and an open-label extension study. Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5.

Reference Type BACKGROUND
PMID: 31202468 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 33692746 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 33935938 (View on PubMed)

Related Links

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http://tircon.eu

Project website

Other Identifiers

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TIRCON-reg

Identifier Type: -

Identifier Source: org_study_id

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