Neurodegeneration With Brain Iron Accumulation (NBIA)TIRCONNCT05522374
TIRCON International NBIA Registry
An observational study of Neurodegeneration With Brain Iron Accumulation (NBIA) and Pantothenate Kinase-associated Neurodegeneration (PKAN), run by LMU Klinikum at 9 sites in 8 countries.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN), Beta-Propeller Protein-Associated Neurodegeneration (BPAN)
- How many people
- 2,000 participants
- Where
- 9 sitesin 8 countries
- Study dates
- 14 Jun 2012to Dec 2040
- How long will I take part?
- 30 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: children, adults, patients with limited decision-making capacity
Who may be able to join
- suspected or confirmed NBIA
- willingness to participate
Who cannot join
- unwillingness to participate
Trial locations and contacts
9 sites in 8 countries. Contact the study team or a site near you to ask about taking part.
9 sites in 8 countries
Spain2 sites
- Active, not recruiting
Hospital Vall d'Hebron - Institut de Recerca (VHIR), Pediatric Neurology, Movement Disorders
Barcelona, 08035
- Active, not recruiting
Hospital Sant Joan de Déu, Universitat de Barcelona, Servei de Neurología
Barcelona, 08950
Canada1 site, 1 recruiting
- Recruiting
Children's Hospital of Eastern Ontario, Division of Neurology, Department of Pediatrics
Ottawa, K1H 8L1
Sunita Venkateswaran, MD,Ass.Prof., +1 613-737-7600 ext. 1605, svenkateswaran@cheo.on.ca
Czechia1 site, 1 recruiting
- Recruiting
Charles University, Department of neurology
Prague, 120 00
Petr Dušek, MU Dr. PhD, +42 22496 ext. 5528, pdusek@gmail.com
Germany1 site, 1 recruiting
- Recruiting
LMU Klinikum, Friedrich-Baur-Institute
Munich, Bavaria, 80336
Thomas Klopstock, Prof. Dr., +49 89 4400 ext. 57421, thomas.klopstock@med.uni-muenchen.de
Almut Bischoff, +49 89 4400 ext. 57066, almut.bischoff@med.uni-muenchen.de
Italy1 site, 1 recruiting
- Recruiting
The Foundation of the Carlo Besta Neurological Institute, IRCCS
Milan, 20133
Giovanna S. Zorzi, Dr., +39 02 2394 ext. 2210, Giovanna.Zorzi@istituto-besta.it
Nardo Nardocci, Dr., nardo.nardocci@istituto-besta.it
Netherlands1 site, 1 recruiting
- Recruiting
University medical Center Groningen (UMCG) Department of Neurology AB 51
Groningen, 9700 RB
Marina AJ de Koning-Tijssen, Prof. Dr., +31-50-361 ext. 2400, M.A.J.de.Koning-Tijssen@umcg.nl
Poland1 site, 1 recruiting
- Recruiting
The Childrens Memorial Health Institute
Warsaw, 04-730
Tomasz Kmiec, Prof. Dr., T.Kmiec@IPCZD.PL
Serbia1 site, 1 recruiting
- Recruiting
University of Belgrade, Department of Movement Disorders and Degenerative Brain Diseases
Belgrade
Marina Svetel, Prof. Dr., +381 11 366 ext. 3409, kontakt@neurologija.bg.ac.rs
Iva Stankovic, Dr., +381 11 306 ext. 4239
About this study
Official title: TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study
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
Read the 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.
- 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
- Keywords
- NBIA, PKAN, BPAN, MPAN, FAHN, KRS, CoPAN, PLAN,
- Medical subject headings
- Pantothenate Kinase-Associated Neurodegeneration, Fatty Acid Hydroxylase-Associated Neurodegeneration, Kufor-Rakeb syndrome, Neuroferritinopathy, Familial apoceruloplasmin deficiency, Woodhouse Sakati syndrome, Neuroaxonal Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| NBIA Patients | Patients with suspected or confirmed NBIA |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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).
Measured: 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).
Measured: 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.
Measured: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Aug 2022
- Study start14 Jun 2012
- Primary completionDec 2040 (estimated)
- Study completionDec 2040 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Neurodegeneration With Brain Iron Accumulation (NBIA)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
- Target duration
- 30 Years
Sponsor and investigators
- Lead sponsor
- LMU Klinikum
- Sponsor type
- University, hospital or other
- Collaborators
- Seventh Framework Programme, NBIA Alliance
- Responsible party
- Principal investigator, Prof. Thomas Klopstock, LMU Klinikum
- Investigators
- Thomas Klopstock, Prof. Dr., Principal investigator, LMU Klinikum, Friedrich-Baur-Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05522374
- Sponsor's protocol ID
- TIRCON-reg
- Acronym
- TIRCON
- Status last verified
- Jun 2025
- First submitted
- 11 Aug 2022
- Last updated
- 5 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Publications
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.
PubMed 22985983Klopstock 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.
PubMed 31202468Karin 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.
PubMed 33692746Iankova 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.
PubMed 33935938
Study at a glance
From the registry record, last updated by the sponsor on 5 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study
- ClinicalTrials.gov ID
- NCT05522374
- Acronym / sponsor ID
- TIRCON / TIRCON-reg
- 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
- Keywords
- NBIA, PKAN, BPAN, MPAN, FAHN, KRS, CoPAN, PLAN,
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- LMU KlinikumUniversity, hospital or other
- Collaborators
- Seventh Framework Programme, NBIA Alliance
- Study start
- 14 Jun 2012 (actual)
- Primary completion
- Dec 2040 (estimated)
- Study completion
- Dec 2040 (estimated)
- First posted
- 31 Aug 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 30 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| NBIA Patients | – | –Patients with suspected or confirmed NBIA |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- children, adults, patients with limited decision-making capacity
Key inclusion criteria (2 listed)
- suspected or confirmed NBIA
- willingness to participate
Key exclusion criteria (1 listed)
- unwillingness to participate
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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).
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).
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jun 2025.
- Background: PubMed 22985983Kalman 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.
- Background: PubMed 31202468Klopstock 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.
- Background: PubMed 33692746Karin 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.
- Background: PubMed 33935938Iankova 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.
- Project websiteLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. 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.
Related trials for Neurodegeneration With Brain Iron Accumulation (NBIA)
Not yet recruiting
Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders
RecruitingObservational study
Neurodegenerative Diseases Progression Markers (MARKERS-NDD)
Neurodegenerative Diseases, Parkinson Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Thomas Klopstock, Prof. Dr. principal investigator
LMU Klinikum, Friedrich-Baur-Institute
9 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurodegeneration With Brain Iron Accumulation (NBIA) and Pantothenate Kinase-associated Neurodegeneration (PKAN), run by LMU Klinikum at 9 sites in 8 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in Spain, Canada, Czechia, Germany, Italy and 3 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Boriana Büchner, Dr. (+49 89 4400 ext. 57067, boriana.buechner@med.uni-muenchen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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 study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05522374, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Jun 2025.