Numerous clinical trials spanning Phase I through Phase III evaluate nitisinone for metabolic and rare genetic conditions, primarily Hereditary Tyrosinemia Type I and Alkaptonuria, alongside albinism, lactic acidosis, and drug-drug interactions in healthy volunteers. Sponsored by commercial entities such as Swedish Orphan Biovitrum and Cycle Pharmaceuticals alongside academic institutions including the University of Liverpool and NHGRI, these studies investigate safety, efficacy, and dosing regimens. Overall recruitment statuses for these trials include completed, unknown, and withdrawn.
| NCT Number | Recruitment | Conditions | Sponsor/Collaborators | Start Date | Phases |
|---|---|---|---|---|---|
| NCT04113772 | UNKNOWN | Hereditary Tyrosinemia, Type I |
Sutphin Drugs |
2019-11-01 | |
| NCT03103568 | COMPLETED | Drug Drug Interaction |
Swedish Orphan Biovitrum |
2017-03-28 | PHASE1 |
| NCT01838655 | COMPLETED | Albinism; Vision Loss |
National Eye Institute (NEI) |
2013-04-16 | PHASE1; PHASE2 |
| NCT01390077 | COMPLETED | Alkaptonuria |
University of California, San Diego |
2011-01 | PHASE2; PHASE3 |
| NCT02750345 | COMPLETED | Hereditary Tyrosinemia, Type I |
Cycle Pharmaceuticals Ltd. |
2016-03 | PHASE1 |
| NCT01916382 | UNKNOWN | Alkaptonuria |
University of Liverpool |
2014-04 | PHASE3 |
| NCT02750709 | COMPLETED | Hereditary Tyrosinemia, Type I |
Cycle Pharmaceuticals Ltd. |
2015-10 | PHASE1 |
| NCT02750332 | COMPLETED | Hereditary Tyrosinemia, Type I |
Cycle Pharmaceuticals Ltd. |
2015-11 | PHASE1 |
| NCT02323529 | COMPLETED | Hereditary Tyrosinemia, Type I |
Swedish Orphan Biovitrum |
2014-12 | PHASE3 |
| NCT02323529 | Completed | Hereditary Tyrosinemia Type I |
Swedish Orphan Biovitrum |
2014-12 | Phase 3 |
| NCT01828463 | COMPLETED | Alkaptonuria |
University of Liverpool |
2013-05 | PHASE2 |
| NCT01857362 | COMPLETED | Healthy |
Swedish Orphan Biovitrum |
2013-05 | PHASE1 |
| NCT01828463 | Completed | Alkaptonuria |
University of Liverpool|Liverpool University Hospitals NHS Foundation Trust |
2013-05 | Phase 2 |
| NCT01734889 | COMPLETED | Hereditary Tyrosinemia, Type I |
Swedish Orphan Biovitrum |
2012-10 | PHASE1 |
| NCT01682538 | COMPLETED | Healthy Volunteers |
Swedish Orphan Biovitrum |
2012-08 | PHASE1 |
| NCT00107783 | COMPLETED | Alkaptonuria |
National Human Genome Research Institute (NHGRI) |
2005-01 | PHASE2 |
| NCT00031161 | COMPLETED | Acidosis, Lactic; Chronic Disease |
University of Florida |
2001-09 |
(data from https://clinicaltrials.gov, updated on 2019-10-03)
Mechanism and Biochemical Profile
Appendix RUO and cGMP Quality Standards
| Quality Dimension | RUO (Research Use Only) | cGMP (Current Good Manufacturing Practice) |
|---|---|---|
| Clinical Applicability | Prohibited in human clinical trials or medical diagnostics. | Mandatory for human clinical trials (Phase I–III) and therapies. |
| Regulatory Status | Non-regulated grade; exempt from drug manufacturing laws. | Legally enforced by health authorities (e.g., FDA, EMA, NMPA). |
| Facility Environment | Unclassified analytical or research laboratories. | Validated Cleanrooms (ISO Class 5–8) with continuous monitoring. |
| Quality Control | Basic purity and activity testing. | Rigorous safety release testing (Sterility, Endotoxin, Mycoplasma). |
| Process Validation | Basic equipment calibration; no process validation required. | Full qualification (IQ/OQ/PQ) and complete batch records. |
| Quality Assurance | Vendor self-declared without required formal QMS. | Mandatory QA/QC unit, Change Control, CAPA, and vendor audits. |
| Regulatory Impact | High risk of IND rejection if used as a critical raw material. | Required for IND/NDA filings, supported by Drug Master Files (DMF). |
Footnotes
Regulatory Note: Governed by FDA (21 CFR Parts 210/211/312), EMA (EudraLex Vol 4), ICH Guidelines (E6/Q7/Q9/Q10), and compendial standards (USP <71>/<85>/<1043>).