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Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2)

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Professor Lakshminarayan Ranganath, University of Liverpool Identifier:
First received: August 2, 2013
Last updated: January 12, 2016
Last verified: August 2013
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.

Condition Intervention Phase
Alkaptonuria Drug: Nitisinone Phase 3

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
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.

Resource links provided by NLM:

Further study details as provided by Professor Lakshminarayan Ranganath, University of Liverpool:

Primary Outcome Measures:
  • 24 houre Urine Homogentisic acid [ Time Frame: year 1 ]

Estimated Enrollment: 140
Study Start Date: April 2014
Estimated Study Completion Date: April 2018
Estimated Primary Completion Date: February 2016 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Nitisinone
Homogentisic acid lowering drug intervention
Drug: Nitisinone
Other Name: Orfadin
No Intervention: No treatment


Ages Eligible for Study:   25 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.

  Contacts and Locations
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Please refer to this study by its identifier: NCT01916382

United Kingdom
Royal Liverpool Hospital
Liverpool, Merseyside, United Kingdom, L7 8XP
Sponsors and Collaborators
University of Liverpool
Principal Investigator: L Ranganath Royal Liverpool and Broadgreen University Hospitals NHS Trust
  More Information

Responsible Party: Professor Lakshminarayan Ranganath, Professor, University of Liverpool Identifier: NCT01916382     History of Changes
Other Study ID Numbers: SONIA 2
Study First Received: August 2, 2013
Last Updated: January 12, 2016

Keywords provided by Professor Lakshminarayan Ranganath, University of Liverpool:
Alkaptonuria, nitisinone,Ochronosis, Homogentisic acid

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Pathologic Processes
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action processed this record on September 21, 2017