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Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1

Phase 3
Completed
Conditions
Hereditary Tyrosinemia, Type I
Interventions
Registration Number
NCT02323529
Lead Sponsor
Swedish Orphan Biovitrum
Brief Summary

The purpose of this study is to look at the steady-state serum concentrations of nitisinone when switching from twice daily and once daily dosing.

Detailed Description

Nitisinone (Orfadin) is used in the treatment of hereditary tyrosinemia type 1(HT-1), an inborn error of metabolism. The clinical study that forms the basis for licensing of nitisinone in the treatment of HT-1 used twice daily dosing. This became the recommended dosing frequency of nitisinone stated in the Summary of Product Characteristics. Later on, when the half-life became know (around 50 hours in adults), many physicians started to use once daily dosing. The suitability of once daily dosing and especially of switching patients from twice to once daily dosing has not been documented. The aim with this study is therefore to investigate the effect on nitisinone serum concentrations (Cmax and Cmin) and possible clinical consequences of a lower dosing frequency.

This one-way crossover study consists of three periods; Screening period, Treatment period 1 and Treatment period 2. The study starts with a screening period (Visit 1-1b) that may be up to 6 weeks long. This is followed by two treatment periods of at least 4 weeks each. During Treatment period 1 (Visits 2-3), the patient will take Orfadin twice daily. During Treatment period 2 (Visits 4-5), the patient will take Orfadin once daily. The dose of nitisinone in the study will be the same as the one prescribed at completed screening visit. Dose will be 1-2 mg/kg body weight. The total treatment period will be at least 8 weeks.

At least 20 patients with a minimum of 3 patients in each of the following age groups will be included; infants (\< 2 years), children (2-\<12 years), adolescents (12-\<18 years) and adults (≥18 years).

Determination of succinylacetone (SA) in blood (serum/plasma) and/or urine will be performed both locally and at a central Good Laboratory Practice certified laboratory (Dry Blood Spot sample). The purpose of the local sample is to provide the investigator with more or less immediate results to determine if a dose adjustment is needed before the patient enters either of the two treatment periods. Results from samples analyzed at the central laboratory, including determination of nitisinone, will be used in the evaluation of pharmacokinetics, efficacy and safety during the two treatment periods.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
18
Inclusion Criteria
  • Male and female patients of all ages diagnosed with HT-1.
  • Patients currently well-controlled, as judged by the investigator, on twice daily (or more frequent) dosing with Orfadin.
  • Stable lab values, including liver values <2 ULN (ALP, ALT, AST, bilirubin, INR).
  • Women of childbearing potential willing to use adequate contraception
  • Signed informed consent/assent.
Exclusion Criteria
  • Patients who have been previously treated with once daily Orfadin, even if later converted to twice daily dosing.
  • Any medical condition which in the opinion of the investigator makes the patient unsuitable for inclusion.
  • Enrollment in another concurrent clinical interventional study within three months prior to inclusion in this study.
  • Pregnant women.
  • Lactating women.
  • Previous liver transplantation.
  • Patients who have recently (past 4 weeks prior to inclusion) started any new medication for a previously undiagnosed illness/disease.
  • Known hepatitis B, hepatitis C or HIV infection.
  • Foreseeable inability to cooperate with given instructions or study procedures.

Study & Design

Study Type
INTERVENTIONAL
Study Design
CROSSOVER
Arm && Interventions
GroupInterventionDescription
Nitisinone treatment groupNitisinoneAll patients in the study will first be put on twice daily dosing of nitisinone for 4 weeks. This will then be followed by once daily dosing of nitisinone for 4 weeks.
Primary Outcome Measures
NameTimeMethod
Minimum serum concentration (Cmin) of nitisinone4 weeks

Sample collected immediately before administration of morning dose

Secondary Outcome Measures
NameTimeMethod
Cmax/Cmin ratio of nitisinone4 weeks
Number of patients with Serum succinylacetone (s-SA) above lower limit of quantification (LLOQ)4 weeks
Number of patients with at least one study drug related adverse events4 weeks

Total and by system organ class and preferred term (MedDRA)

Maximum serum concentration (Cmax) of nitisinone4 weeks

Sample collected 3-4 hours post dose

Serum-alpha fetoprotein (µg/L)4 weeks

Descriptive statistics of s-alpha fetoprotein

Number of patients with at least one adverse event4 weeks

Total and by system organ class and preferred term (MedDRA)

Number of patients with at least one serious adverse events4 weeks

Total and by system organ class and preferred term (MedDRA)

Number of patients with at least one non-serious adverse event4 weeks

Total and by system organ class and preferred term (MedDRA)

Serum-tyrosine (µmol/L)4 weeks

Descriptive statistics of s-tyrosine

Minimum serum concentration (Cmin) of nitisinone at possible occurence of s-SA above lower limit of quantification (LLOQ)4 weeks

Cmin of nitisinone will be listed for patients with s-SA above LLOQ

Number of patients with at least one adverse event leading to study discontinuation4 weeks

Total and by system organ class and preferred term (MedDRA)

Trial Locations

Locations (2)

Swedish Orphan Biovitrum Investigational site

🇸🇪

Gothenburg, Sweden

Swedish Orphan Biovitrum Investigational Site

🇩🇪

Reutlingen, Germany

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