TIRCON International NBIA Registry

Официальное название

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

Обзор

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

Подробное описание

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.

Первичные конечные точки

• Change in Score on the Barry-Albright Dystonia (BAD) Scale [Срок оценки: 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 [Срок оценки: 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) [Срок оценки: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.]
• Disease progression [Срок оценки: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.]

Критерии участия

Критерии включения

• suspected or confirmed NBIA
• willingness to participate

Критерии исключения

• unwillingness to participate

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Испания · 2 центра

• Hospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorde — Barcelona
• Hospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología — Barcelona

Канада · 1 центр

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

Чехия · 1 центр

• Charles University, Department of neurology — Prague

Германия · 1 центр

• LMU Klinikum, Friedrich-Baur-Institute — Munich

Италия · 1 центр

• The Foundation of the Carlo Besta Neurological Institute, IRCCS — Milan

Нидерланды · 1 центр

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

Польша · 1 центр

• The Childrens Memorial Health Institute — Warsaw

Сербия · 1 центр

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

Публикации

• 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 22985983
• 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-bl PMID 31202468
• 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. PMID 33692746
• 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. PMID 33935938

Идентификаторы

NCT: NCT05522374 · TIRCON-reg

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

Открыть это исследование на ClinicalTrials.gov ↗