Recruiting

Observational Study

Sponsor:

LMU Klinikum

Code:

NCT05522374

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)

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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

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)

Study ID

NCT05522374

Start date

Jun 14, 2012

Status verified date

Jun, 2025

Completion date

Dec, 2040

Anticipated

Primary completion date

Dec, 2040

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • suspected or confirmed NBIA
  • willingness to participate

Exclusion Criteria:

  • unwillingness to participate

Study Design

Enrollment

2000 participants

Anticipated

Interventions and Outcome Measures

Arms

NBIA Patients

Patients with suspected or confirmed NBIA

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. ]
  • 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. ]
  • 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. ]
  • 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. ]

Central Contacts and Locations

Central contacts

Boriana Büchner, Dr.

+49 89 4400boriana.buechner@med.uni-muenchen.de

Almut Bischoff

+49 89 4400almut.bischoff@med.uni-muenchen.de

Locations

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

Recruiting

Ottawa, Canada, K1H 8L1

Contacts

Sunita Venkateswaran, MD,Ass.Prof.

+1 613-737-7600svenkateswaran@cheo.on.ca

More Information

Sponsor

LMU Klinikum

Last update posted

Jun 5, 2025

Last verified

Jun, 2025

Keywords

  • NBIA, PKAN, BPAN, MPAN, FAHN, KRS, CoPAN, PLAN,

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by LMU Klinikum on 2025-06-05.