Alkaptonuria
Conditions
Keywords
Alkaptonuria, nitisinone,Ochronosis, Homogentisic acid
Brief summary
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.
Interventions
DRUGNitisinone
drug
Sponsors
University of Liverpool
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
25 Years to No maximum
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. \-
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 24 houre Urine Homogentisic acid | year 1 |
Countries
United Kingdom
Outcome results
None listed