TIRCON International NBIA Registry

Neurodegeneration With Brain Iron Accumulation (NBIA) Clinical Trial

— TIRCON  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05522374
• Other study ID #: TIRCON-reg
• Status: Recruiting
• Start date: June 14, 2012
• Est. completion date: December 2040

Study information

• Verified date: December 2023
• Source: LMU Klinikum
• Contact: Boriana Büchner, Dr.
• Phone: +49 89 4400
• Email: boriana.buechner[@]med.uni-muenchen.de
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: December 2040
• Est. primary completion date: December 2040
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• suspected or confirmed NBIA
• willingness to participate

Exclusion Criteria:

• unwillingness to participate

Related Conditions & MeSH terms

• Aceruloplasminemia
• Nerve Degeneration
• Neurodegeneration With Brain Iron Accumulation (NBIA)
• Pantothenate Kinase-Associated Neurodegeneration
• Pantothenate Kinase-associated Neurodegeneration (PKAN)
• Syndrome

Locations

Country	Name	City	State
Canada	Children's Hospital of Eastern Ontario, Division of Neurology, Department of Pediatrics	Ottawa
Czechia	Charles University, Department of neurology	Praha
Germany	LMU Klinikum, Friedrich-Baur-Institute	Munich	Bavaria
Italy	The Foundation of the Carlo Besta Neurological Institute, IRCCS	Milan
Netherlands	University medical Center Groningen (UMCG) Department of Neurology AB 51	Groningen
Poland	The Childrens Memorial Health Institute	Warsaw
Serbia	University of Belgrade, Department of Movement Disorders and Degenerative Brain Diseases	Belgrade
Spain	Hospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología	Barcelona
Spain	Hospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorders	Barcelona

Sponsors (3)

Lead Sponsor	Collaborator
LMU Klinikum	NBIA Alliance, Seventh Framework Programme

Countries where clinical trial is conducted

Canada,  Czechia,  Germany,  Italy,  Netherlands,  Poland,  Serbia,  Spain, 

References & Publications (4)

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. — View 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. — View 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. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.
Primary	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.
Primary	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.
Primary	Disease progression	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.

External Links

•   Project website