TIRCON International NBIA Registry
TIRCON
TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study
1 other identifier
observational
2,000
8 countries
9
Brief 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
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jun 2012
Longer than P75 for all trials
9 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
June 14, 2012
CompletedFirst Submitted
Initial submission to the registry
August 11, 2022
CompletedFirst Posted
Study publicly available on registry
August 31, 2022
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2040
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 1, 2040
June 5, 2025
June 1, 2025
28.5 years
August 11, 2022
June 2, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (4)
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.
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).
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).
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.
The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Study Arms (1)
NBIA Patients
Patients with suspected or confirmed NBIA
Eligibility Criteria
children, adults, patients with limited decision-making capacity
You may qualify if:
- suspected or confirmed NBIA
- willingness to participate
You may not qualify if:
- unwillingness to participate
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- LMU Klinikumlead
- Seventh Framework Programmecollaborator
- NBIA Alliancecollaborator
Study Sites (9)
Children's Hospital of Eastern Ontario, Division of Neurology, Department of Pediatrics
Ottawa, K1H 8L1, Canada
Charles University, Department of neurology
Prague, 120 00, Czechia
LMU Klinikum, Friedrich-Baur-Institute
Munich, Bavaria, 80336, Germany
The Foundation of the Carlo Besta Neurological Institute, IRCCS
Milan, 20133, Italy
University medical Center Groningen (UMCG) Department of Neurology AB 51
Groningen, 9700 RB, Netherlands
The Childrens Memorial Health Institute
Warsaw, 04-730, Poland
University of Belgrade, Department of Movement Disorders and Degenerative Brain Diseases
Belgrade, Serbia
Hospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorders
Barcelona, 08035, Spain
Hospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología
Barcelona, 08950, Spain
Related Publications (4)
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: 22985983BACKGROUNDKlopstock 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.
PMID: 31202468BACKGROUNDKarin 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: 33692746BACKGROUNDIankova 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: 33935938BACKGROUND
Related Links
Biospecimen
RNA, DNA, Plasma and urine
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Thomas Klopstock, Prof. Dr.
LMU Klinikum, Friedrich-Baur-Institute
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 30 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Prof. Dr. med.
Study Record Dates
First Submitted
August 11, 2022
First Posted
August 31, 2022
Study Start
June 14, 2012
Primary Completion (Estimated)
December 1, 2040
Study Completion (Estimated)
December 1, 2040
Last Updated
June 5, 2025
Record last verified: 2025-06
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- ICF
- 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.
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.