TIRCON International NBIA Registry

LMU Klinikum

Status

Enrolling

Conditions

Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN)

Pantothenate Kinase-associated Neurodegeneration (PKAN)

Woodhouse Sakati Syndrome

Neurodegeneration With Brain Iron Accumulation (NBIA)

Neuroferritinopathy

PLA2G6-Associated Neurodegeneration (PLAN)

Beta-Propeller Protein-Associated Neurodegeneration (BPAN)

Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)

Kufor Rakeb Syndrome

COASY Protein-associated Neurodegeneration (CoPAN)

Aceruloplasminemia

Study type

Observational

Funder types

Other

Identifiers

NCT05522374

TIRCON-reg

Details and patient eligibility

About

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

Full 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.

Enrollment

2,000 estimated patients

Sex

All

Ages

Under 100 years old

Volunteers

No Healthy Volunteers

Inclusion criteria