TIRCON International NBIA Registry (TIRCON)

June 2, 2025 updated by: Prof. Thomas Klopstock, LMU Klinikum

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

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

Study Overview

Status

Recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

2000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Canada
      • Ottawa, Canada, K1H 8L1
        • Recruiting
        • Children's Hospital of Eastern Ontario, Division of Neurology, Department of Pediatrics
        • Contact:
  • Czechia
      • Praha, Czechia, 120 00
        • Recruiting
        • Charles University, Department of neurology
        • Contact:
  • Germany
  • Italy
  • Netherlands
      • Groningen, Netherlands, 9700 RB
        • Recruiting
        • University medical Center Groningen (UMCG) Department of Neurology AB 51
        • Contact:
  • Poland
      • Warsaw, Poland, 04-730
        • Recruiting
        • The Childrens Memorial Health Institute
        • Contact:
  • Serbia
      • Belgrade, Serbia
        • Recruiting
        • University of Belgrade, Department of Movement Disorders and Degenerative Brain Diseases
        • Contact:
        • Contact:
          • Iva Stankovic, Dr.
          • Phone Number: 4239 +381 11 306
  • Spain
      • Barcelona, Spain, 08035
        • Active, not recruiting
        • Hospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorders
      • Barcelona, Spain, 08950
        • Active, not recruiting
        • Hospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years to 96 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

children, adults, patients with limited decision-making capacity

Description

Inclusion Criteria:

  • suspected or confirmed NBIA
  • willingness to participate

Exclusion Criteria:

  • unwillingness to participate

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
NBIA Patients
Patients with suspected or confirmed NBIA

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
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
Time Frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
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)
Time Frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
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
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 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.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

LMU Klinikum

Collaborators

Seventh Framework Programme
NBIA Alliance

Investigators

  • Principal Investigator: Thomas Klopstock, Prof. Dr., LMU Klinikum, Friedrich-Baur-Institute

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 14, 2012

Primary Completion (Estimated)

December 1, 2040

Study Completion (Estimated)

December 1, 2040

Study Registration Dates

First Submitted

August 11, 2022

First Submitted That Met QC Criteria

August 29, 2022

First Posted (Actual)

August 31, 2022

Study Record Updates

Last Update Posted (Estimated)

June 5, 2025

Last Update Submitted That Met QC Criteria

June 2, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • TIRCON-reg

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

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.

IPD Sharing Time Frame

ime frame for data usage needs to be specified in the proposal for data sharing

IPD Sharing Access Criteria

Approved written proposal including description of the research plan and data usage purpose.

IPD Sharing Supporting Information Type

  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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