An observational study in Hereditary Tyrosinemia, Type I, sponsored by Swedish Orphan Biovitrum. Withdrawn at 4 sites in China. Per ClinicalTrials.gov, last updated 2025-12-23.
Sponsored by Swedish Orphan Biovitrum · Observational
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.
20 studies on the registry are indexed under Tyrosinemias; 3 are open to participants now.
Browse Tyrosinemias studies →Swedish Orphan Biovitrum is the lead sponsor of 82 studies on the registry; 6 are open to participants now.
Of its 17 completed or terminated interventional studies of FDA-regulated products, 15 (88%) have results posted.
Counted across the registry records on this site, refreshed daily.
Investigators at selected sites in China will attempt to consecutively enroll all eligible patients who present for a routine clinical visit.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
1. Enrollment in a concurrent clinical interventional study, or intake of an Medicinal Product (IMP), within three months prior to inclusion in this study
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The Full Analysis Set (FAS) will include all patients with a confirmed HT-1 diagnosis on Nitisinone treatment in routine clinical care, who provide signed informed consent. Patients must be either on treatment with Nitisinone at study entry or they must have been prescribed Nitisinone at enrollment. No specific exclusion criteria from the analysis set will be applied. The FAS will be used for all analyses.
Drug: Nitisinone
According to prescription
Also known as: Orfadin®
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.
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.
Plan to share: Yes — According to Sobi's data sharing policy Sobi may share anonymized clinical study data with qualified researchers. Sobi commits to sharing clinical study data on participant level and summary data for medicines and indications approved by the European Medicines Agency (EMA) and/or the Food and Drug Administration (FDA). Data access will be granted in response to qualified research requests. All requests are evaluated by a cross functional panel of experts within Sobi.
Time frame: Evaluated on a case by case basis
Access criteria: A decision on data sharing will be based on the following: The scientific merit of the proposal - i.e. the proposal should be scientifically sound, ethical, and have the potential to contribute to the advancement of public health. The feasibility of the research proposal - i.e. the requesting research team must be scientifically qualified and have the resources to conduct the proposed project. Maintenance of personal integrity - i.e. Sobi will not consider sharing individual data if there is a risk of re-identification of individuals despite a proper anonymisation. Moreover, the patients' informed consent will always be respected. Sobi reserves the right to reject the proposal if the anonymisation process will render unusable data. Publication of results - the applicants should commit to submit their findings to a peer-reviewed scientific journal, alternatively to present the results at a congress (poster or similar), regardless of the research outcome
Data sharing details ↗ · www.sobi.com
No publications or documents are linked to this record.
Start is estimated for Sep 2025; primary completion for Jun 2027, 21 months later.
How these figures are worked out, and which studies are left out of them.
This study is withdrawn, as verified in Dec 2025. You cannot join it, but the record below documents what was studied.
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