Trial Outcomes & Findings for Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria (NCT NCT01390077)

Results Overview

Urine homogentisic acid (umol/mmol creatinine)

Recruitment status

COMPLETED

Study phase

PHASE2/PHASE3

Target enrollment

8 participants

Primary outcome timeframe

3-6 months

Results posted on

2021-04-22

Participant milestones
Measure	Nitisinone All subjects received open-label nitisinone, taken orally, supplied as a 2mg tablet. The starting dose was 2 mg once daily, and increased to 4, 6, or 8 mg, case-by-case.
Overall Study STARTED	8
Overall Study Treatment	7
Overall Study COMPLETED	7
Overall Study NOT COMPLETED	1

Withdrawal data not reported

Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria

Baseline characteristics by cohort
Measure	Nitisinone n=8 Participants all subjects will receive open-label nitisinone Nitisinone: Taken orally. Supplied as a 2mg tablet. The starting dose is 2 mg once daily.
Age, Continuous	47 years n=99 Participants
Sex: Female, Male Female	2 Participants n=99 Participants
Sex: Female, Male Male	6 Participants n=99 Participants

Timeframe: 3-6 months

Urine homogentisic acid (umol/mmol creatinine)

Outcome measures
Measure	HGA, Baseline n=7 Participants Urine homogentisic acid (umol/mmol Cr), while taking no nitisinone	HGA, 2 mg/d Nitisinone n=7 Participants Urine homogentisic acid (umol/mmol Cr), while on nitisinone, 2 mg/d	HGA, 4 mg Nitisinone n=6 Participants Urine homogentisic acid (umol/mmol Cr), while on 4 mg/d nitisinone
Homogentisic Acid Excretion	1425.9 uM Standard Deviation 678.3	113.1 uM Standard Deviation 70.9	34.0 uM Standard Deviation 12.9

Timeframe: 3-6 months

Plasma tyrosine (uM)

Outcome measures
Measure	HGA, Baseline n=7 Participants Urine homogentisic acid (umol/mmol Cr), while taking no nitisinone	HGA, 2 mg/d Nitisinone n=7 Participants Urine homogentisic acid (umol/mmol Cr), while on nitisinone, 2 mg/d	HGA, 4 mg Nitisinone n=6 Participants Urine homogentisic acid (umol/mmol Cr), while on 4 mg/d nitisinone
Tyrosine Levels	53.1 uM Standard Deviation 14.8	668.7 uM Standard Deviation 114.7	703.7 uM Standard Deviation 120.8

Serious events: 0 serious events

Other events: 3 other events

Deaths: 0 deaths

Adverse event data not reported

Other adverse events
Measure	Nitisinone n=7 participants at risk All subjects who participated in treatment received open-label nitisinone, taken orally, supplied as a 2mg tablet. The starting dose was 2 mg once daily, and increased to 4, 6, and 8 mg/d, case-by-case.
Eye disorders Ocular irritation	28.6% 2/7 • Patients were monitored up to 3.5 years. Patients 1-3 were monitored over the course of 3-3.5 years, while patients 4-7 were monitored between 0.5 and 1 year
Gastrointestinal disorders Abdominal discomfort	14.3% 1/7 • Patients were monitored up to 3.5 years. Patients 1-3 were monitored over the course of 3-3.5 years, while patients 4-7 were monitored between 0.5 and 1 year

University of California, San Diego

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