TIRCON International NBIA Registry

Condition(s) studied

Study 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

Eligibility

Primary outcome measure(s)

• Change in Score on the Barry-Albright Dystonia (BAD) Scale — 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 — 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) — 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 — 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.

Trial sites (9)

More LMU Klinikum trials in Spain