This is a prospective, non-interventional, non-comparative, multicenter study to collect data on HT-1 patients in China treated with Nitisinone in a routine clinical setting. No tests or examinations are mandated in the study.
This is a prospective, non-interventional, non-comparative, multicenter study to collect data on HT-1 patients in China treated with Nitisinone in a routine clinical setting. No tests or examinations are mandated in the study, though the expectation is that most of the tests and examinations listed in the protocol will be performed in the context of routine clinical care and relevant data will be captured. At enrollment, data on patient treatment, medical and surgical history together with other patient characteristics will be captured.Patients enrolled in the study will be followed for at least 1 year and for a maximum of 3.5 years. The study aims to enroll at least 15 HT-1 patients aged 0-18 years. If adult patients are enrolled the study population will be larger as all eligible patients will be invited to participate. However, the enrollment will close when the target of 15 patients aged 0-18 years has been reached.
Study Type
OBSERVATIONAL
According to prescription
Swedish Orphan Biovitrum Research Site
Beijing, China
Swedish Orphan Biovitrum Research Site
Chongqing, China
Swedish Orphan Biovitrum Research Site
Hefei, China
Swedish Orphan Biovitrum Research Site
Wuhan, China
Occurrence of hepatic, renal or hematological adverse events (AEs) or death
Number and percent of patients with occurrence and number of occurrences per 100 patient years.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Occurrence of death
Number and percent of patients with occurrence and number of occurrences per 100 patient years.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Occurrence of liver transplantation
Number and percent of patients with occurrence and number of occurrences per 100 patient years.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Occurrence of hepatic malignancy
Number and percent of patients with occurrence and number of occurrences per 100 patient years.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Occurrence of other (non-hepatic) malignancies
Number and percent of patients with occurrence and number of occurrences per 100 patient years.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Occurrence of ophthalmic events
Number and percent of patients with occurrence and number of occurrences per 100 patient years.
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Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Occurrence of neurological events
Number and percent of patients with occurrence and number of occurrences per 100 patient years.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Occurrence of cognitive, developmental function AEs
Cognitive, developmental function AEs will be recorded in the eCRF.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Occurrence of any reportable AEs
Number and percent of patients with occurrence and number of occurrences per 100 patient years. Reportable AEs are defined as: * All Serious Adverse Events (SAEs) irrespective of causality with Nitisinone * Non-serious Adverse Events (AEs) assessed as causally related to treatment with Nitisinone * All Adverse Events leading to subject discontinuation from the study
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Treatment and diet compliance
Rated from 1 ("very good") to 4 ("very poor") and "unknown". Number and percent of patients in each group.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Extent of exposure
Extent of exposure as measured by: * Prescribed daily dose of Nitisinone * Changes in prescribed doses of Nitisinone
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Extent of Exposure
Extent of exposure as measured by: * Nitisinone trough concentrations in dried blood spot * Nitisinone trough concentrations in serum or plasma (depending on method)
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Laboratory investigations - Blood Coagulation (1)
Mean, median, standard deviation, minimum, and maximum time for ad-hoc specified age groups will be calculated for: • Prothrombin time (International Normalized Ratio)
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Laboratory investigations - Blood Coagulation (2)
Mean, median, standard deviation, minimum, and maximum time for ad-hoc specified age groups will be calculated for: • Partial thromboplastin time (milliseconds)
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Laboratory investigations - Blood Coagulation (3)
Mean, median, standard deviation, minimum, and maximum time for ad-hoc specified age groups will be calculated for: • Activated partial thromboplastin time (seconds per ration)
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Laboratory investigations - Blood Chemistry (1)
Mean, median, standard deviation, minimum, and maximum concentration for ad-hoc specified age groups will be calculated for blood concentrations of: * Tyrosine (µmol/L) * Phenylalanine (µmol/L) * Succinylacetone (µmol/L) * Creatinine (µmol/L) * Aspartate transaminase (µmol/L) * Serum bilirubin (µmol/L)
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Laboratory investigations - Blood Chemistry (2)
Mean, median, standard deviation, minimum, and maximum concentration for ad-hoc specified age groups will be calculated for blood concentrations of: • Alpha-fetoprotein (ng/mL)
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Laboratory investigations - Blood Chemistry (3)
Mean, median, standard deviation, minimum, and maximum concentration for ad-hoc specified age groups will be calculated for blood concentrations of: * Alanine transaminase (international units per liter) * Alkaline phosphatase (international units per liter) * Gamma-glutamyl transferase (international units per liter)
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Laboratory investigations - Blood Chemistry (4)
Mean, median, standard deviation, minimum, and maximum concentration for ad-hoc specified age groups will be calculated for blood concentrations of: • Albumin (g/L)
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Overall clinical condition as assessed by the investigator
Overall clinical condition will be assessed by the investigator on a 4-point scale; normal, mildly ill, moderately ill, markedly ill. Number and percent of patients in each group.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Ophthalmic status as assessed by the investigator
As assessed by the investigator ("yes, normal", "no, not normal", and "unknown"). Number and percent of patients in each group.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.
Neurocognitive/developmental status as assessed by the investigator
As assessed by the investigator ("yes, normal", "no, not normal", and "unknown"). Number and percent of patients in each group.
Time frame: Data will be collected for all routine visits completed during the study period which is at least 12 months but no more than 3.5 years.