Clinical trial NCT05522374: TIRCON International NBIA Registry
Official title: TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Neurodegeneration With Brain Iron Accumulation (NBIA)
Pantothenate Kinase-associated Neurodegeneration (PKAN)
Beta-Propeller Protein-Associated Neurodegeneration (BPAN)
Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)
Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN)
Kufor Rakeb Syndrome
Neuroferritinopathy
Aceruloplasminemia
Woodhouse Sakati Syndrome
COASY Protein-associated Neurodegeneration (CoPAN)
PLA2G6-Associated Neurodegeneration (PLAN)
Keywords: NBIA, PKAN, BPAN, MPAN, FAHN, KRS, CoPAN, PLAN,
Lead sponsor: LMU Klinikum
Sponsor class: OTHER
Collaborators: name: Seventh Framework Programme
name: NBIA Alliance
First posted: 2022-08-31
Enrollment: 2000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: children, adults, patients with limited decision-making capacity

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

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.

Eligibility criteria: Inclusion Criteria:

* suspected or confirmed NBIA
* willingness to participate

Exclusion Criteria:

* unwillingness to participate

Primary outcomes:
measure: Change in Score on the Barry-Albright Dystonia (BAD) Scale
timeFrame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
measure: Change in Score on Unified Parkinson's Disease Rating (UPDRS) Scale, Part I-III, VI
timeFrame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
measure: Change in Score on Pediatric Quality of Life (PedsQL)
timeFrame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
measure: Disease progression
timeFrame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Secondary outcomes:
Other outcomes:
Locations:
city: Ottawa
country: Canada
facility: Children's Hospital of Eastern Ontario, Division of Neurology, Department of Pediatrics
city: Praha
country: Czechia
facility: Charles University, Department of neurology
city: Munich
country: Germany
facility: LMU Klinikum, Friedrich-Baur-Institute
state: Bavaria
city: Milan
country: Italy
facility: The Foundation of the Carlo Besta Neurological Institute, IRCCS
city: Groningen
country: Netherlands
facility: University medical Center Groningen (UMCG) Department of Neurology AB 51
city: Warsaw
country: Poland
facility: The Childrens Memorial Health Institute
city: Belgrade
country: Serbia
facility: University of Belgrade, Department of Movement Disorders and Degenerative Brain Diseases
city: Barcelona
country: Spain
facility: Hospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorders
city: Barcelona
country: Spain
facility: Hospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología
Study officials:
affiliation: LMU Klinikum, Friedrich-Baur-Institute
name: Thomas Klopstock, Prof. Dr.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.