Trial Outcomes & Findings for Long-Term Study of Nitisinone to Treat Alkaptonuria (NCT NCT00107783)

NCT ID: NCT00107783

Last Updated: 2021-08-26

Results Overview

Change from baseline in the total (external + internal) hip range of motion (ROM) in the worse hip at 36 months. The patient lies on exam table in the supine position. The patient flexes his/her hip and knee to 90 degrees. The examiner measures the patient's hip external rotation and hip internal rotation range of motion with a goniometer.

Recruitment status

COMPLETED

Study phase

PHASE2

Target enrollment

40 participants

Primary outcome timeframe

Measured at baseline and at 36 months

Results posted on

2021-08-26

Participant Flow

Patients were enrolled at the NIH Clinical Center between April 2005 and March 2006.

Participant milestones

Participant milestones
Measure
Control
No treatment
Nitisinone-treated
Subjects received nitisinone 2 mg orally, once daily.
Overall Study
STARTED
20
20
Overall Study
COMPLETED
17
16
Overall Study
NOT COMPLETED
3
4

Reasons for withdrawal

Reasons for withdrawal
Measure
Control
No treatment
Nitisinone-treated
Subjects received nitisinone 2 mg orally, once daily.
Overall Study
Adverse Event
0
2
Overall Study
Death
0
1
Overall Study
Withdrawal by Subject
2
0
Overall Study
Second hip replacement
1
1

Baseline Characteristics

Long-Term Study of Nitisinone to Treat Alkaptonuria

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Control
n=20 Participants
No treatment
Nitisinone-treated
n=20 Participants
Subjects received nitisinone 2 mg orally, once daily.
Total
n=40 Participants
Total of all reporting groups
Age, Categorical
<=18 years
0 Participants
n=99 Participants
0 Participants
n=107 Participants
0 Participants
n=206 Participants
Age, Categorical
Between 18 and 65 years
20 Participants
n=99 Participants
19 Participants
n=107 Participants
39 Participants
n=206 Participants
Age, Categorical
>=65 years
0 Participants
n=99 Participants
1 Participants
n=107 Participants
1 Participants
n=206 Participants
Age, Continuous
51.3 years
STANDARD_DEVIATION 6.5 • n=99 Participants
52.2 years
STANDARD_DEVIATION 7.9 • n=107 Participants
51.7 years
STANDARD_DEVIATION 7.1 • n=206 Participants
Sex: Female, Male
Female
5 Participants
n=99 Participants
8 Participants
n=107 Participants
13 Participants
n=206 Participants
Sex: Female, Male
Male
15 Participants
n=99 Participants
12 Participants
n=107 Participants
27 Participants
n=206 Participants
Region of Enrollment
United States
20 participants
n=99 Participants
20 participants
n=107 Participants
40 participants
n=206 Participants
Total Range of Motion (ROM) Worse Hip
46.4 degrees
STANDARD_DEVIATION 16.1 • n=99 Participants
39.0 degrees
STANDARD_DEVIATION 12.7 • n=107 Participants
42.7 degrees
STANDARD_DEVIATION 14.8 • n=206 Participants
Schober's test
11.42 cm
STANDARD_DEVIATION 1.04 • n=99 Participants
10.86 cm
STANDARD_DEVIATION 0.73 • n=107 Participants
11.14 cm
STANDARD_DEVIATION 0.93 • n=206 Participants
Functional Reach Assessment
10.22 cm
STANDARD_DEVIATION 2.92 • n=99 Participants
8.98 cm
STANDARD_DEVIATION 3.10 • n=107 Participants
9.60 cm
STANDARD_DEVIATION 3.04 • n=206 Participants
Timed get up and go
7.56 seconds
STANDARD_DEVIATION 1.40 • n=99 Participants
9.70 seconds
STANDARD_DEVIATION 4.10 • n=107 Participants
8.63 seconds
STANDARD_DEVIATION 3.21 • n=206 Participants
6 minute walk test
1578 ft
STANDARD_DEVIATION 205 • n=99 Participants
1336 ft
STANDARD_DEVIATION 369 • n=107 Participants
1457 ft
STANDARD_DEVIATION 319 • n=206 Participants

PRIMARY outcome

Timeframe: Measured at baseline and at 36 months

Population: Intention to treat.

Change from baseline in the total (external + internal) hip range of motion (ROM) in the worse hip at 36 months. The patient lies on exam table in the supine position. The patient flexes his/her hip and knee to 90 degrees. The examiner measures the patient's hip external rotation and hip internal rotation range of motion with a goniometer.

Outcome measures

Outcome measures
Measure
Control
n=20 Participants
No treatment
Nitisinone-treated
n=20 Participants
Subjects received nitisinone 2 mg orally, once daily.
Change in Total ROM Worse Hip
-9.1 degrees
Standard Deviation 24.7
1.6 degrees
Standard Deviation 21.8

SECONDARY outcome

Timeframe: Measured at baseline and at 36 months

Population: In the control group, two patients who dropped out for personal reasons were not included in this analysis, and in the treated group one patient who died was not included in this analysis.

Change from baseline of Schober's test at 36 months. Schober's test measures a patient's ability to flex his/her lower back. The examiner makes a mark at L5 (fifth lumbar vertebra) and places one finger 5 cm below and another finger 10 cm above this mark. The patient is asked to touch his/her toes. The examiner measures the increase in distance between the two fingers.

Outcome measures

Outcome measures
Measure
Control
n=18 Participants
No treatment
Nitisinone-treated
n=19 Participants
Subjects received nitisinone 2 mg orally, once daily.
Change in Schober's Test
-0.06 cm
Standard Deviation 1.33
0.12 cm
Standard Deviation 1.05

SECONDARY outcome

Timeframe: Measured at baseline and at 36 months

Population: In the control group, two patients who dropped out for personal reasons were not included in this analysis, and in the treated group one patient who died was not included in this analysis.

Change from baseline of functional reach assessment at 36 months. Functional reach assessment measures the difference between the length of a person's outstretched arm and their maximal reach forward, while maintaining balance.

Outcome measures

Outcome measures
Measure
Control
n=18 Participants
No treatment
Nitisinone-treated
n=19 Participants
Subjects received nitisinone 2 mg orally, once daily.
Change in Functional Reach Assessment
-1.21 cm
Standard Deviation 3.81
-1.86 cm
Standard Deviation 3.59

SECONDARY outcome

Timeframe: Measured at baseline and at 36 months

Population: In the control group, two patients who dropped out for personal reasons were not included in this analysis, and in the treated group one patient who died was not included in this analysis.

Change from baseline of timed get up and go at 36 months. In timed get up and go, the patient is asked to stand up from a standard chair and walk a distance of 3 meters, turn around and walk back to the chair and sit down. The examiner measures the time it takes for the patient to perform this series of tasks.

Outcome measures

Outcome measures
Measure
Control
n=18 Participants
No treatment
Nitisinone-treated
n=19 Participants
Subjects received nitisinone 2 mg orally, once daily.
Change in Timed Get up and go
-0.54 seconds
Standard Deviation 1.84
-1.33 seconds
Standard Deviation 5.04

SECONDARY outcome

Timeframe: Measured at baseline and at 36 months

Population: In the control group, two patients who dropped out for personal reasons were not included in this analysis, and in the treated group one patient who died was not included in this analysis.

Change from baseline of the 6MWT at 36 months. The 6MWT measures the distance that a patient can quickly walk on a flat hard surface in a period of six minutes.

Outcome measures

Outcome measures
Measure
Control
n=18 Participants
No treatment
Nitisinone-treated
n=19 Participants
Subjects received nitisinone 2 mg orally, once daily.
Change in 6 Minute Walk Test (6MWT)
22 ft
Standard Deviation 356
169 ft
Standard Deviation 591

Adverse Events

Control

Serious events: 0 serious events
Other events: 10 other events
Deaths: 0 deaths

Nitisinone-treated

Serious events: 6 serious events
Other events: 10 other events
Deaths: 0 deaths

Serious adverse events

Serious adverse events
Measure
Control
n=20 participants at risk
No treatment
Nitisinone-treated
n=20 participants at risk
Subjects received nitisinone 2 mg orally, once daily.
Cardiac disorders
atrial fibrillation
0.00%
0/20 • 36 months
5.0%
1/20 • Number of events 1 • 36 months
Eye disorders
keratitis
0.00%
0/20 • 36 months
5.0%
1/20 • Number of events 3 • 36 months
Hepatobiliary disorders
bile duct stone
0.00%
0/20 • 36 months
5.0%
1/20 • Number of events 1 • 36 months
Injury, poisoning and procedural complications
accidental overdose
0.00%
0/20 • 36 months
5.0%
1/20 • Number of events 1 • 36 months
Hepatobiliary disorders
liver enzyme elevation
0.00%
0/20 • 36 months
5.0%
1/20 • Number of events 1 • 36 months
Injury, poisoning and procedural complications
muscle injury
0.00%
0/20 • 36 months
5.0%
1/20 • Number of events 1 • 36 months
Blood and lymphatic system disorders
anemia
0.00%
0/20 • 36 months
5.0%
1/20 • Number of events 1 • 36 months
Immune system disorders
sarcoidosis
0.00%
0/20 • 36 months
5.0%
1/20 • Number of events 1 • 36 months

Other adverse events

Other adverse events
Measure
Control
n=20 participants at risk
No treatment
Nitisinone-treated
n=20 participants at risk
Subjects received nitisinone 2 mg orally, once daily.
Hepatobiliary disorders
elevated liver enzymes
30.0%
6/20 • Number of events 8 • 36 months
30.0%
6/20 • Number of events 8 • 36 months
Psychiatric disorders
depression
10.0%
2/20 • Number of events 2 • 36 months
0.00%
0/20 • 36 months
Infections and infestations
upper respiratory infection
25.0%
5/20 • Number of events 6 • 36 months
10.0%
2/20 • Number of events 2 • 36 months
Skin and subcutaneous tissue disorders
skin rash
15.0%
3/20 • Number of events 3 • 36 months
0.00%
0/20 • 36 months
Ear and labyrinth disorders
sensorineural hearing loss
0/0 • 36 months
15.0%
3/20 • Number of events 3 • 36 months

Additional Information

William Gahl, MD/Clinical Director

NHGRI

Phone: 301-402-2739

Results disclosure agreements

  • Principal investigator is a sponsor employee
  • Publication restrictions are in place