Neuropsychological Outcomes in Tyrosinaemia Type 1

Condition

Tyrosinaemia Type 1

Full Study Name

Executive and social functioning in patients with Tyrosinemia Type 1

Lead Site

University Medical Center Groningen

Local Principal Investigator

Elisabeth Jameson

Study Status

setup

Main Aims

The main objective of this study is to explore the executive, social-cognitive, and social functioning and behaviour of HT1 patients from the age of 7 years in relation to history of treatment and treatment adherence. It is expected that there will be significant differences between HT1 patients with high and low blood concentrations, and between patients and controls in executive, social-cognitive, and social functioning and behaviour.

Inclusion Criteria

General inclusion criteria for recruitment of HT1 patients:

  • Patients meet NIH-diagnostic criteria for Hereditary Tyrosinemia Type 1 (HT1)
  • Patients are treated with NTBC alone or with a diet as well, or patients received orthotopic liver transplantation (OLT)
  • Minimum age of 7 years at time of study
  • IQ ≥ 80 (if unknown, this will be assessed)
  • Patients have not participated in neuropsychological studies in the last 6 months
  • Native speaker

General inclusion criteria for recruitment of controls:

  • Controls are healthy
  • Minimum age of 7 years at time of study
  • IQ ≥ 80 (if unknown, this will be assessed)
  • Controls have not participated in neuropsychological studies in the last 6 months
  • Native speaker
Exclusion Criteria

General exclusion criteria for recruitment of HT1 patients:

  • Mental retardation that has been diagnosed by the clinical centre, or if the IQ is below 80 (after assessment)
  • Neurological damage due to the disease, except for acute porphyria attacks
  • Medical illnesses other than HT1 with known effects on cognitive and social functioning
  • Not a native speaker

General exclusion criteria for recruitment of controls:

  • Mental retardation that has been diagnosed by the clinical centre, or if the IQ is below 80 (after assessment)
  • Medical illnesses with known effects on cognitive and social functioning
  • Not a native speaker
Open Sites

Birmingham, Groningen