This trial is active, not recruiting.

Condition alkaptonuria
Treatment nitisinone
Phase phase 3
Sponsor University of Liverpool
Start date April 2014
End date February 2016
Trial size 140 participants
Trial identifier NCT01916382, SONIA 2


This is a proposal to develop the orphan designated drug, nitisinone, for the treatment of a rare Mendelian disease, Alkaptonuria (AKU). Thanks to our existing successful fundamental and clinical research (cell models, animal models, natural history studies), we are now ready for this final stage of clinical development of nitisinone for AKU: a phase 3 clinical trial to prove efficacy. The results of DevelopAKUre will allow us to make the case to the European Medicines Agency for marketing authorisation of nitisinone for AKU, thereby contributing to the goal of the International Rare Diseases Research Consortium of developing 200 new therapies by 2020.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Allocation randomized
Endpoint classification efficacy study
Intervention model parallel assignment
Masking open label
Primary purpose treatment
Homogentisic acid lowering drug intervention
nitisinone Orfadin
(No Intervention)

Primary Outcomes

24 houre Urine Homogentisic acid
time frame: year 1

Eligibility Criteria

Male or female participants at least 25 years old.

Inclusion Criteria: A patient must fulfil the following criteria in order to be included in the study: 1. Diagnosis of AKU Any Clinical manifestations of AKU, such as clinical ochronosis or chronic back/joint pain. 3. Age ≥25 years. 4. Willing and able to visit the investigational site for study visits. 5. Signed written informed consent given. Exclusion Criteria: The presence of any of the following will exclude a patient from inclusion in the study: 1. Currently pregnant or lactating. 2. Female patient of child-bearing potential not using a reliable method of contraception. 3. Known allergy to nitisinone or any of the constituents of the investigational product. 4. Current malignancy. 5. Uncontrolled hypertension (blood pressure greater than 180 mmHg systolic or greater than 95 mmHg diastolic). 6. Unstable cardiovascular disease. 7. Serum potassium < 3.0 mmol/L. 8. eGFR < 60 mL/min . 9. ALT > 1.5 x upper limit of normal. 10. Haemoglobin < 10.0 g/dL. 11. Platelets < 100 x 109/L. 12. Total white blood count < 3.0 x 109/L or neutrophil count < 1.5 x 109/L. 13. History of alcohol or drug abuse. 14. Participation in another clinical study within 3 months of randomization. 15. Treatment with nitisinone within 60 days of randomization. 16. Psychiatric or somatic illness that interferes with compliance or communication with health care personnel. 17. Foreseeable inability to cooperate with given instructions or study procedures. 18. Any other medical condition which in the opinion of the investigator makes the patient unsuitable for inclusion.

Additional Information

Official title An International, Multicentre, Randomised, Evaluator-blind, No-treatment Controlled, Parallel-group Study to Assess the Efficacy and Safety of Once Daily Nitisinone in Patients With Alkaptonuria After 12 Months of Treatment, Followed by an Additional 36 Month Treatment Period.
Principal investigator L Ranganath
Trial information was received from ClinicalTrials.gov and was last updated in January 2016.
Information provided to ClinicalTrials.gov by University of Liverpool.