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| Name | Class |
|---|---|
| Seventh Framework Programme | OTHER |
| NBIA Alliance | UNKNOWN |
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TIRCON-reg aims to
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| NBIA Patients | Patients with suspected or confirmed NBIA |
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| Measure | Description | Time Frame |
|---|---|---|
| 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. |
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Inclusion Criteria:
Exclusion Criteria:
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children, adults, patients with limited decision-making capacity
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Boriana Büchner, Dr. | Contact | +49 89 4400 | 57067 | boriana.buechner@med.uni-muenchen.de |
| Almut Bischoff | Contact | +49 89 4400 | 57066 | almut.bischoff@med.uni-muenchen.de |
| Name | Affiliation | Role |
|---|---|---|
| Thomas Klopstock, Prof. Dr. | LMU Klinikum, Friedrich-Baur-Institute | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital of Eastern Ontario, Division of Neurology, Department of Pediatrics | Recruiting | Ottawa | K1H 8L1 | Canada |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 22985983 | Background | 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. | |
| 31202468 | Background | 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. |
| Label | URL |
|---|---|
| Project website | View source |
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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.
ime frame for data usage needs to be specified in the proposal for data sharing
Approved written proposal including description of the research plan and data usage purpose.
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RNA, DNA, Plasma and urine
| The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death. |
| Charles University, Department of neurology | Recruiting | Prague | 120 00 | Czechia |
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| LMU Klinikum, Friedrich-Baur-Institute | Recruiting | Munich | Bavaria | 80336 | Germany |
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| The Foundation of the Carlo Besta Neurological Institute, IRCCS | Recruiting | Milan | 20133 | Italy |
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| University medical Center Groningen (UMCG) Department of Neurology AB 51 | Recruiting | Groningen | 9700 RB | Netherlands |
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| The Childrens Memorial Health Institute | Recruiting | Warsaw | 04-730 | Poland |
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| University of Belgrade, Department of Movement Disorders and Degenerative Brain Diseases | Recruiting | Belgrade | Serbia |
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| Hospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorders | Active, not recruiting | Barcelona | 08035 | Spain |
| Hospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología | Active, not recruiting | Barcelona | 08950 | Spain |
| 33692746 | Background | 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. |
| 33935938 | Background | 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. |
| ID | Term |
|---|---|
| D006211 | Pantothenate Kinase-Associated Neurodegeneration |
| C580102 | Fatty Acid Hydroxylase-Associated Neurodegeneration |
| C537177 | Kufor-Rakeb syndrome |
| C548080 | Neuroferritinopathy |
| C536004 | Familial apoceruloplasmin deficiency |
| C536742 | Woodhouse Sakati syndrome |
| D019150 | Neuroaxonal Dystrophies |
| ID | Term |
|---|---|
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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