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NCT Number: NCT05522374

TIRCON International NBIA Registry

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

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Key information

Conditions

Neurodegeneration With Brain Iron Accumulation (NBIA) Aceruloplasminemia Basal Ganglia Diseases Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Brain Diseases COASY Protein-associated Neurodegeneration (CoPAN) Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Familial apoceruloplasmin deficiency Fatty Acid Hydroxylase-Associated Neurodegeneration Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN) Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Kufor Rakeb Syndrome Kufor-Rakeb syndrome Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) Movement Disorders Nervous System Diseases Neuroaxonal Dystrophies Neurodegenerative Diseases Neuroferritinopathy PLA2G6-Associated Neurodegeneration (PLAN) Pantothenate Kinase-Associated Neurodegeneration Pantothenate Kinase-associated Neurodegeneration (PKAN) Woodhouse Sakati Syndrome

Sex eligibility

All sexes

Study type

Observational

Primary location

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

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • suspected or confirmed NBIA
  • willingness to participate

Exclusion criteria

  • unwillingness to participate

Treatment and study plan

Primary outcomes

  1. 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.

  2. 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).

  3. 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).

  4. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Almut Bischoff

CONTACT

[email protected]

+49 89 4400 ext. 57066

Boriana Büchner, Dr.

CONTACT

[email protected]

+49 89 4400 ext. 57067

Sponsors and collaborators

Lead sponsor

LMU Klinikum

Other

Collaborators

  • NBIA Alliance
  • Seventh Framework Programme

Registry information

Official study title

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

Acronym: TIRCON

Important dates

Study start
2012
Primary completion
2040
Study completion
2040
First posted
Aug 31, 2022
Registry last updated
Jun 5, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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