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Nitisinone for Type 1B Oculocutaneous Albinism

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01838655
First Posted: April 24, 2013
Last Update Posted: November 17, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
National Human Genome Research Institute (NHGRI)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
Results First Submitted: August 21, 2017  
Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment;   Masking: None (Open Label);   Primary Purpose: Treatment
Conditions: Albinism
Vision Loss
Intervention: Drug: Nitisinone

  Participant Flow
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Recruitment Details
Key information relevant to the recruitment process for the overall study, such as dates of the recruitment period and locations
Five participants with OCA1B will be enrolled initially. However, up to an additional three participants may be enrolled to account for participants who withdraw from the study for any reason before the Month 12 visit.

Pre-Assignment Details
Significant events and approaches for the overall study following participant enrollment, but prior to group assignment
No text entered.

Reporting Groups
  Description
Nitisinone

Oral administration of nitisinone

Nitisinone: Oral dose of 2mg daily for 12 months.


Participant Flow:   Overall Study
    Nitisinone
STARTED   5 
COMPLETED   5 
NOT COMPLETED   0 



  Baseline Characteristics
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Population Description
Explanation of how the number of participants for analysis was determined. Includes whether analysis was per protocol, intention to treat, or another method. Also provides relevant details such as imputation technique, as appropriate.
No text entered.

Reporting Groups
  Description
Nitisinone

Oral administration of nitisinone

Nitisinone: Oral dose of 2mg daily for 12 months.


Baseline Measures
   Nitisinone 
Overall Participants Analyzed 
[Units: Participants]
 5 
Age 
[Units: Participants]
Count of Participants
 
<=18 years      0   0.0% 
Between 18 and 65 years      5 100.0% 
>=65 years      0   0.0% 
Age 
[Units: Years]
Mean (Full Range)
 38.8 
 (24 to 52) 
Sex: Female, Male 
[Units: Participants]
Count of Participants
 
Female      3  60.0% 
Male      2  40.0% 
Ethnicity (NIH/OMB) 
[Units: Participants]
Count of Participants
 
Hispanic or Latino      0   0.0% 
Not Hispanic or Latino      4  80.0% 
Unknown or Not Reported      1  20.0% 
Race (NIH/OMB) 
[Units: Participants]
Count of Participants
 
American Indian or Alaska Native      0   0.0% 
Asian      0   0.0% 
Native Hawaiian or Other Pacific Islander      0   0.0% 
Black or African American      0   0.0% 
White      4  80.0% 
More than one race      0   0.0% 
Unknown or Not Reported      1  20.0% 


  Outcome Measures
  Show All Outcome Measures

1.  Primary:   Absolute Mean Change in Iris Pigmentation on an 8-point Iris Transillumination Scale at 12 Months as Compared to Baseline. Participants Left and Right Eyes Will be Analyzed.   [ Time Frame: Baseline and 12 months ]

2.  Secondary:   Absolute Mean Change in Iris Pigmentation on an 8-point Iris Transillumination Scale at 3 Months as Compared to Baseline. Participants Left and Right Eyes Will be Analyzed.   [ Time Frame: Baseline and 3 months ]

3.  Secondary:   Absolute Mean Change in Iris Pigmentation on an 8-point Iris Transillumination Scale at 6 Months as Compared to Baseline. Participants Left and Right Eyes Will be Analyzed.   [ Time Frame: Baseline and 6 months ]

4.  Secondary:   Absolute Mean Change in Iris Pigmentation on an 8-point Iris Transillumination Scale at 9 Months as Compared to Baseline. Participants Left and Right Eyes Will be Analyzed.   [ Time Frame: Baseline and 9 months ]

5.  Secondary:   Absolute Change in Semi-quantitative Iris Pigmentation for Each Eye at 3 Months as Compared to Baseline   [ Time Frame: Baseline and 3 months ]

6.  Secondary:   Absolute Change in Semi-quantitative Iris Pigmentation for Each Eye at 6 Months as Compared to Baseline   [ Time Frame: Baseline and 6 months ]

7.  Secondary:   Absolute Change in Semi-quantitative Iris Pigmentation for Each Eye at 9 Months as Compared to Baseline   [ Time Frame: Baseline and 9 months ]

8.  Secondary:   Absolute Change in Semi-quantitative Iris Pigmentation for Each Eye at 12 Months as Compared to Baseline   [ Time Frame: Baseline and 12 months ]

9.  Secondary:   Percent Change in Semi-quantitative Iris Pigmentation for Each Eye at 3 Months as Compared to Baseline   [ Time Frame: Baseline and 3 months ]

10.  Secondary:   Percent Change in Semi-quantitative Iris Pigmentation for Each Eye at 6 Months as Compared to Baseline   [ Time Frame: Baseline and 6 months ]

11.  Secondary:   Percent Change in Semi-quantitative Iris Pigmentation for Each Eye at 9 Months as Compared to Baseline   [ Time Frame: Baseline and 9 months ]

12.  Secondary:   Percent Change in Semi-quantitative Iris Pigmentation for Each Eye at 12 Months as Compared to Baseline   [ Time Frame: Baseline and 12 months ]

13.  Secondary:   Absolute Change in Electronic Visual Acuity at 3 Months Compared to Baseline   [ Time Frame: Baseline and 3 months ]

14.  Secondary:   Absolute Change in Electronic Visual Acuity at 6 Months Compared to Baseline   [ Time Frame: Baseline and 6 months ]

15.  Secondary:   Absolute Change in Electronic Visual Acuity at 9 Months Compared to Baseline   [ Time Frame: Baseline and 9 months ]

16.  Secondary:   Absolute Change in Electronic Visual Acuity at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 months ]

17.  Secondary:   Absolute Change in Contrast Sensitivity Without Glare at 3 Months Compared to Baseline   [ Time Frame: Baseline and 3 months ]

18.  Secondary:   Absolute Change in Contrast Sensitivity Without Glare at 6 Months Compared to Baseline   [ Time Frame: Baseline and 6 months ]

19.  Secondary:   Absolute Change in Contrast Sensitivity Without Glare at 9 Months Compared to Baseline   [ Time Frame: Baseline and 9 months ]

20.  Secondary:   Absolute Change in Contrast Sensitivity Without Glare at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 months ]

21.  Secondary:   Absolute Change in Contrast Sensitivity With Medium Glare at 3 Months Compared to Baseline   [ Time Frame: Baseline and 3 months ]

22.  Secondary:   Absolute Change in Contrast Sensitivity With Medium Glare at 6 Months Compared to Baseline   [ Time Frame: Baseline and 6 months ]

23.  Secondary:   Absolute Change in Contrast Sensitivity With Medium Glare at 9 Months Compared to Baseline   [ Time Frame: Baseline and 9 months ]

24.  Secondary:   Absolute Change in Contrast Sensitivity With Medium Glare at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 months ]

25.  Secondary:   Absolute Change in Contrast Sensitivity With High Glare at 3 Months Compared to Baseline   [ Time Frame: Baseline and 3 months ]

26.  Secondary:   Absolute Change in Contrast Sensitivity With High Glare at 6 Months Compared to Baseline   [ Time Frame: Baseline and 6 months ]

27.  Secondary:   Absolute Change in Contrast Sensitivity With High Glare at 9 Months Compared to Baseline   [ Time Frame: Baseline and 9 months ]

28.  Secondary:   Absolute Change in Contrast Sensitivity With High Glare at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 months ]

29.  Secondary:   Absolute Change in Adjusted Melanin Index at 3 Months Compared to Baseline   [ Time Frame: Baseline and 3 Months ]

30.  Secondary:   Absolute Change in Adjusted Melanin Index at 6 Months Compared to Baseline   [ Time Frame: Baseline and 6 Months ]

31.  Secondary:   Absolute Change in Adjusted Melanin Index at 9 Months Compared to Baseline   [ Time Frame: Baseline and 9 Months ]

32.  Secondary:   Absolute Change in Adjusted Melanin Index at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 Months ]

33.  Secondary:   Percent Change in Adjusted Melanin Index at 3 Months Compared to Baseline   [ Time Frame: Baseline and 3 Months ]

34.  Secondary:   Percent Change in Adjusted Melanin Index at 6 Months Compared to Baseline   [ Time Frame: Baseline and 6 Months ]

35.  Secondary:   Percent Change in Adjusted Melanin Index at 9 Months Compared to Baseline   [ Time Frame: Baseline and 9 Months ]

36.  Secondary:   Percent Change in Adjusted Melanin Index at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 Months ]

37.  Secondary:   Absolute Change in Melanin Index at 3 Months Compared to Baseline   [ Time Frame: Baseline and 3 Months ]

38.  Secondary:   Absolute Change in Melanin Index at 6 Months Compared to Baseline   [ Time Frame: Baseline and 6 Months ]

39.  Secondary:   Absolute Change in Melanin Index at 9 Months Compared to Baseline   [ Time Frame: Baseline and 9 Months ]

40.  Secondary:   Absolute Change in Melanin Index at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 Months ]

41.  Secondary:   Percent Change in Melanin Index at 3 Months Compared to Baseline   [ Time Frame: Baseline and 3 Months ]

42.  Secondary:   Percent Change in Melanin Index at 6 Months Compared to Baseline   [ Time Frame: Baseline and 6 Months ]

43.  Secondary:   Percent Change in Melanin Index at 9 Months Compared to Baseline   [ Time Frame: Baseline and 9 Months ]

44.  Secondary:   Percent Change in Melanin Index at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 Months ]

45.  Secondary:   Absolute Change in Electroretinogram (ERG) at Month 6 as Compared to Baseline.   [ Time Frame: Baseline and 6 months ]

46.  Secondary:   Absolute Change in Electroretinogram (ERG) at Month 12 as Compared to Baseline.   [ Time Frame: Baseline and 12 months ]

47.  Secondary:   Qualitative Change in Hair Pigmentation at 3 Months Compared to Previous Visit.   [ Time Frame: Baseline and 3 months ]

48.  Secondary:   Qualitative Change in Hair Pigmentation at 6 Months Compared to Previous Visit.   [ Time Frame: 3 Months and 6 months ]

49.  Secondary:   Qualitative Change in Hair Pigmentation at 9 Months Compared to Previous Visit.   [ Time Frame: 6 Months and 9 months ]

50.  Secondary:   Qualitative Change in Hair Pigmentation at 12 Months Compared to Previous Visit.   [ Time Frame: 9 Months and 12 months ]

51.  Secondary:   Qualitative Change in Skin Pigmentation at 3 Months Compared to Previous Visit.   [ Time Frame: Baseline and 3 months ]

52.  Secondary:   Qualitative Change in Skin Pigmentation at 6 Months Compared to Previous Visit.   [ Time Frame: 3 Months and 6 months ]

53.  Secondary:   Qualitative Change in Skin Pigmentation at 9 Months Compared to Previous Visit.   [ Time Frame: 6 Months and 9 months ]

54.  Secondary:   Qualitative Change in Skin Pigmentation at 12 Months Compared to Previous Visit.   [ Time Frame: 9 Months and 12 months ]

55.  Secondary:   Qualitative Change in Fundus Pigmentation at 3 Months Compared to Previous Visit.   [ Time Frame: Baseline and 3 months ]

56.  Secondary:   Qualitative Change in Fundus Pigmentation at 6 Months Compared to Previous Visit.   [ Time Frame: 3 Months and 6 months ]

57.  Secondary:   Qualitative Change in Fundus Pigmentation at 9 Months Compared to Previous Visit.   [ Time Frame: 6 Months and 9 months ]

58.  Secondary:   Qualitative Change in Fundus Pigmentation at 12 Months Compared to Previous Visit.   [ Time Frame: 9 Months and 12 months ]

59.  Secondary:   Absolute Change in Hair Melanin at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 months ]

60.  Secondary:   Percent Change in Hair Melanin at 12 Months Compared to Baseline   [ Time Frame: Baseline and 12 months ]

61.  Other Pre-specified:   Number of Ocular Adverse Events   [ Time Frame: Study duration, up to 18 months ]

62.  Other Pre-specified:   Number of Non-ocular Adverse Events   [ Time Frame: Study duration, up to 18 months ]

63.  Other Pre-specified:   Severity of Adverse Events   [ Time Frame: Study duration, up to 18 months ]

64.  Other Pre-specified:   Number of Adverse Events Related to Investigational Product (IP)   [ Time Frame: Study duration, up to 18 months ]

65.  Other Pre-specified:   Number of Participants Withdrawn From Investigational Product (IP) Due to Safety and Abnormal Laboratory Results   [ Time Frame: Study duration, up to 18 months ]


  Serious Adverse Events


  Other Adverse Events


  Limitations and Caveats
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Limitations of the study, such as early termination leading to small numbers of participants analyzed and technical problems with measurement leading to unreliable or uninterpretable data
No text entered.


  More Information
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Certain Agreements:  
All Principal Investigators ARE employed by the organization sponsoring the study.


Results Point of Contact:  
Name/Title: Brian Brooks, MD, PhD, Principal Investigator, NEI
Organization: National Institutes of Health
phone: 301-451-2238
e-mail: brian.brooks@nih.gov


Publications:

Responsible Party: National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
ClinicalTrials.gov Identifier: NCT01838655     History of Changes
Other Study ID Numbers: 130124
13-EI-0124 ( Other Identifier: NIH Combined NeuroScience Institutional Review Board )
First Submitted: April 20, 2013
First Posted: April 24, 2013
Results First Submitted: August 21, 2017
Results First Posted: November 17, 2017
Last Update Posted: November 17, 2017