A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients

NCT06227429 | Withdrawn

• 1 other identifier: Sobi.NTBC-008
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 4

Brief 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.

Conditions

Hereditary Tyrosinemia, Type I

Keywords

rare diseases; fumarylacetoacetate hydrolase (FAH) deficiency; liver failure; drug treatment; nitisinone; observational research; phase IV; China; pediatric patient

Outcome Measures

Primary Outcomes (1)

• 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.

Secondary Outcomes (21)

• Occurrence of death

  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

  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

  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

  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

  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.

Study Arms (1)

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.

Drug: Nitisinone

Interventions

Nitisinone DRUG

According to prescription

Also known as: Orfadin®

Full Analysis Set (FAS)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Investigators at selected sites in China will attempt to consecutively enroll all eligible patients who present for a routine clinical visit.

You may qualify if:

• 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

Sponsors & Collaborators

• Swedish Orphan Biovitrum: lead

Study Sites (4)

Swedish Orphan Biovitrum Research Site

Beijing, China

Location

Swedish Orphan Biovitrum Research Site

Chongqing, China

Location

Swedish Orphan Biovitrum Research Site

Hefei, China

Location

Swedish Orphan Biovitrum Research Site

Wuhan, China

Location

MeSH Terms

Conditions

Tyrosinemias; Rare Diseases; Fanconi Anemia; Liver Failure

Interventions

nitisinone

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; DNA Repair-Deficiency Disorders; Hepatic Insufficiency; Liver Diseases; Digestive System Diseases

Study Officials

• 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

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 19, 2023
• First Posted: January 26, 2024
• Study Start: September 1, 2025
• Primary Completion (Estimated): June 30, 2027
• Study Completion (Estimated): June 30, 2027
• Last Updated: December 23, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will share
• 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

Locations

CN (4)