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No patients were prescribed to the study treatment due to the generic treatment being available.
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Nitisinone | Drug | According to prescription |
|
|
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Occurrence of death | Number and percent of patients with occurrence and number of occurrences per 100 patient years. | 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 |
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Inclusion Criteria:
Exclusion Criteria:
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
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Investigators at selected sites in China will attempt to consecutively enroll all eligible patients who present for a routine clinical visit.
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| Name | Affiliation | Role |
|---|---|---|
| Ioannis Kottakis, MD, PhD | Swedish Orphan Biovitrum | Study Director |
| Xiaoping Luo, MD, PhD | Tongji Hospital, Tongji Medical College of Huazhong University of Science & Technology | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Swedish Orphan Biovitrum Research Site | Beijing | China | ||||
| Swedish Orphan Biovitrum Research Site |
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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Evaluated on a case by case basis
A decision on data sharing will be based on the following:
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| ID | Term |
|---|---|
| D020176 | Tyrosinemias |
| D035583 | Rare Diseases |
| D005199 | Fanconi Anemia |
| D017093 | Liver Failure |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| ID | Term |
|---|---|
| C077073 | nitisinone |
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Number and percent of patients with occurrence and number of occurrences per 100 patient years. |
| 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. | 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. | 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. | 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. | 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. | 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:
| 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. | 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:
| 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:
| 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) | 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) | 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) | 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:
| 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) | 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:
| 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) | 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. | 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. | 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. | 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. |
| Chongqing |
| China |
| Swedish Orphan Biovitrum Research Site | Hefei | China |
| Swedish Orphan Biovitrum Research Site | Wuhan | China |
| D009422 | Nervous System Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D029502 | Anemia, Hypoplastic, Congenital |
| D000741 | Anemia, Aplastic |
| D000740 | Anemia |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D000080984 | Congenital Bone Marrow Failure Syndromes |
| D000080983 | Bone Marrow Failure Disorders |
| D001855 | Bone Marrow Diseases |
| D049914 | DNA Repair-Deficiency Disorders |
| D048550 | Hepatic Insufficiency |
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |