Hereditary Tyrosinemia, Type INCT06227429
A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients
An observational study of Hereditary Tyrosinemia, Type I, run by Swedish Orphan Biovitrum at 4 sites in China.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hereditary Tyrosinemia, Type I
- What is being tested?
- Nitisinone
- How many people
- 0 participants
- Where
- 4 sitesChina
- Study dates
- Sep 2025to 30 Jun 2027
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Investigators at selected sites in China will attempt to consecutively enroll all eligible patients who present for a routine clinical visit.
Who may be able to join
- Patients with a confirmed diagnosis of HT-1 treated with, or at enrollment prescribed, Nitisinone treatment (product manufactured by Sobi) in a routine clinical care setting. The decision to initiate treatment shall be made by the treating physician independently from the decision to include the patient in the study.
- Signed and dated informed consent provided by the patient, or the patient's legally authorized representative(s) for patients under the legal age, should be obtained before any study-related activities are undertaken. Assent should be obtained from pediatric patients according to local regulations
Who cannot join
- 1. Enrollment in a concurrent clinical interventional study, or intake of an Investigational Medicinal Product (IMP), within three months prior to inclusion in this study
Trial locations and contacts
4 sites in 1 country.
China4 sites
Swedish Orphan Biovitrum Research Site
Beijing
Swedish Orphan Biovitrum Research Site
Chongqing
Swedish Orphan Biovitrum Research Site
Hefei
Swedish Orphan Biovitrum Research Site
Wuhan
About this study
Official title: A Prospective, Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in Hereditary Tyrosinemia Type 1 (HT-1) Patients in Routine Clinical Care in China
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.
Read the detailed description
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.
- Conditions
- Hereditary Tyrosinemia, Type I
- Being tested
- Nitisinone
- Keywords
- rare diseases, fumarylacetoacetate hydrolase (FAH) deficiency, liver failure, drug treatment, nitisinone, observational research, phase IV, China, pediatric patient
- Medical subject headings
- Tyrosinemias, Rare Diseases, Fanconi Anemia, Liver Failure
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NitisinoneDrug
Also called Orfadin®
According to prescription
| Study group | Role | What they receive |
|---|---|---|
| Full Analysis Set (FAS) | 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. Receives: Drug: Nitisinone |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Secondary outcomes (21)
Occurrence of death
Number and percent of patients with occurrence and number of occurrences per 100 patient years.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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
Measured: 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.
Measured: 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
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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)
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jan 2024
- Study startSep 2025 (estimated)
- Primary completion30 Jun 2027 (estimated)
- Study completion30 Jun 2027 (estimated)
Why it stopped: No patients were prescribed to the study treatment due to the generic treatment being available.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Tyrosinemia, Type IStudies of the same condition, open and under way.
- More trials run by Swedish Orphan BiovitrumThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Swedish Orphan Biovitrum
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Ioannis Kottakis, MD, PhD, Study director, Swedish Orphan BiovitrumXiaoping Luo, MD, PhD, Principal investigator, Tongji Hospital, Tongji Medical College of Huazhong University of Science & Technology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06227429
- Sponsor's protocol ID
- Sobi.NTBC-008
- Status last verified
- Dec 2025
- First submitted
- 19 Dec 2023
- Last updated
- 23 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Study at a glance
From the registry record, last updated by the sponsor on 23 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in Hereditary Tyrosinemia Type 1 (HT-1) Patients in Routine Clinical Care in China
- ClinicalTrials.gov ID
- NCT06227429
- Acronym / sponsor ID
- Sobi.NTBC-008
- Conditions
- Hereditary Tyrosinemia, Type I
- Keywords
- rare diseases, fumarylacetoacetate hydrolase (FAH) deficiency, liver failure, drug treatment, nitisinone, observational research, phase IV, China
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: No patients were prescribed to the study treatment due to the generic treatment being available.
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Swedish Orphan BiovitrumIndustry (pharma, biotech, devices)
- Study start
- Sep 2025 (estimated)
- Primary completion
- 30 Jun 2027 (estimated)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 26 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Full Analysis Set (FAS) | – | Drug: NitisinoneThe 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Investigators at selected sites in China will attempt to consecutively enroll all eligible patients who present for a routine clinical visit.
Key inclusion criteria (2 listed)
- Patients with a confirmed diagnosis of HT-1 treated with, or at enrollment prescribed, Nitisinone treatment (product manufactured by Sobi) in a routine clinical care setting. The decision to initiate treatment shall be made by the treating physician independently from the decision to include the patient in the study.
- Signed and dated informed consent provided by the patient, or the patient's legally authorized representative(s) for patients under the legal age, should be obtained before any study-related activities are undertaken. Assent should be obtained from pediatric patients according to local regulations
Key exclusion criteria (1 listed)
- 1. Enrollment in a concurrent clinical interventional study, or intake of an Investigational Medicinal Product (IMP), within three months prior to inclusion in this study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| NitisinoneAlso: Orfadin®According to prescription | Drug | Full Analysis Set (FAS) |
Primary outcome
Occurrence of hepatic, renal or hematological adverse events (AEs) or death
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.
Number and percent of patients with occurrence and number of occurrences per 100 patient years.
21 secondary outcomes
Occurrence of death
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
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
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
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
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
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
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
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
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
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
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)
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)
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)
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)
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)
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)
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)
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
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
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
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.
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Dec 2025.
- Individual participant dataSharing planned: 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ioannis Kottakis, MD, PhD study director
Swedish Orphan Biovitrum
Xiaoping Luo, MD, PhD principal investigator
Tongji Hospital, Tongji Medical College of Huazhong University of Science & Technology
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Tyrosinemia, Type I, run by Swedish Orphan Biovitrum at 4 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 23 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Occurrence of hepatic, renal or hematological adverse events (AEs) or death (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.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Dec 2025.