Observational study on Nitisinone treatment for patients with Hereditary Tyrosinemia Type I

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

Observational Swedish Orphan Biovitrum · NCT06227429

This study is looking at how well Nitisinone works for kids and young adults with Hereditary Tyrosinemia Type I by tracking their treatment and health over time.

Quick facts

Study typeObservational
Enrollment15 (estimated)
SexAll
SponsorSwedish Orphan Biovitrum Industry-sponsored
Locations4 sites (Beijing and 3 other locations)
Trial IDNCT06227429 on ClinicalTrials.gov

What this trial studies

This is a prospective, non-interventional, multicenter study aimed at collecting data on patients with Hereditary Tyrosinemia Type I (HT-1) in China who are treated with Nitisinone. The study does not mandate any specific tests or examinations, relying instead on routine clinical care to gather relevant patient data. Patients will be followed for a minimum of one year, with a maximum follow-up of 3.5 years, and the study aims to enroll at least 15 patients aged 0-18 years, although adults may also be included. Data collected will include treatment history, medical and surgical history, and other patient characteristics.

Who should consider this trial

Good fit: Ideal candidates for this study are patients aged 0-18 years with a confirmed diagnosis of HT-1 who are being treated with Nitisinone.

Not a fit: Patients currently enrolled in a concurrent clinical interventional study or taking an Investigational Medicinal Product may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide valuable insights into the long-term outcomes of Nitisinone treatment in HT-1 patients, potentially improving patient care.

How similar studies have performed: While this study is observational and non-comparative, similar studies have previously provided valuable data on treatment outcomes for rare diseases, suggesting potential for meaningful insights.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

1. 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.
2. 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

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

Where this trial is running

Beijing and 3 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Hereditary Tyrosinemia, Type Irare diseasesfumarylacetoacetate hydrolase deficiencyliver failuredrug treatmentnitisinoneobservational researchphase IV
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.