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Key inclusion & exclusion criteria
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- INCLUSION CRITERIA:
To be eligible, the following inclusion criteria must be met, when applicable.
1. Participant must be 18 years of age or older.
2. Participant must understand and sign the protocol s informed consent document.
3. Participant must have normal renal function, liver function, and platelet counts or
have mild abnormalities no greater than grade 1 as defined by the Common Terminology
Criteria for Adverse Events v4.0 (CTCAE).
4. Any female participant of childbearing potential must have a negative pregnancy test
at screening and must be willing to undergo pregnancy testing immediately prior to the
start of the investigational product and while on the investigational product.
5. Any female participant of childbearing potential and any male participant able to
father children must have (or have a partner who has) had a hysterectomy or vasectomy,
be completely abstinent from intercourse, or must agree to practice two effective
methods of contraception while taking the investigational product and for at least two
months following the last dose of investigational product. Acceptable methods of
contraception include:
- Hormonal contraception (i.e., birth control pills, injected hormones, dermal
patch, or vaginal ring),
- Intrauterine device,
- Barrier methods (diaphragm, condom) with spermicide, or
- Surgical sterilization (tubal ligation).
6. Participant must have OCA1B, as defined by ALL (a-d) of the following criteria:
1. Participant has ophthalmic signs or symptoms of albinism, including:
- Bilateral visual acuity E-ETDRS EVA letter score of less than or equal to 83
(i.e., Snellen equivalent of 20/25 or worse) that is not attributable to any
other pathology.
- Bilateral iris transillumination that can be seen in clinical photographs.
2. Predominant contralateral decussation of ganglion cell axons, as determined by
pattern visual evoked potential (VEP).
3. Participant has at least one definitive mutation in the OCA1 gene (tyrosinase).
4. Participant has no definitive mutations in the OCA2 gene.
EXCLUSION CRITERIA:
- Participant is pregnant or breast-feeding.
- Participant is a male AND has a definitive mutation in the OA1 gene.
- Participant has any of the following abnormal laboratory test results:
1. Serum potassium < 3.0 mEq/L,
2. Serum CK > 500 U/L,
3. Hemoglobin < 10.0 g/dL,
4. White blood cell (WBC) count < 3.0 k/microL,
5. Plasma tyrosine > 150 microM,
6. ESR > 100 mm/h, and/or
7. Serum T4 > 15 microg/dL OR Serum T4 < 4 microg/dL.
- Participant has keratopathy.
- Participant has a current malignancy.
- Participant has open skin lesions.
- Participant is on a diet that deliberately increases protein intake to
disproportionate levels (e.g., Atkins diet). The diet must be reasonably balanced, as
determined by a dietician.
- Participant has uncontrolled hypertension, defined as systolic blood pressure above
180 mmHg or diastolic blood pressure above 95 mmHg.
- Participant has another chronic ocular disease that may confound the results of visual
tests, such as age-related macular degeneration, cataract of possible visual
significance, or uncontrolled glaucoma.
- Participant drinks more than the equivalent of two glasses of wine per day on average,
has a history of alcohol abuse, or has a severe liver illness.
- Participant s liver is > 3 cm below the right costal margin.
- Participant has a muscle disease.
- Participant is currently taking a medication known to cause elevated liver function
tests including statins/HMG-Co-A reductase inhibitors (e.g., lovastatin, simvastatin);
anti-epileptic medications (e.g., carbamazepine, phenytoin, phenobarbital);
tetracycline or its derivatives, if used chronically; acetaminophen, if used
daily/chronically; amiodarone; and any other medications with known significant liver
toxicity.
Age minimum:
18 Years
Age maximum:
N/A
Gender:
All
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Secondary Outcome(s)
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Absolute Change in Contrast Sensitivity With High Glare at 3 Months Compared to Baseline
[Time Frame: Baseline and 3 months]
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Absolute Change in Contrast Sensitivity With Medium Glare at 9 Months Compared to Baseline
[Time Frame: Baseline and 9 months]
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Absolute Change in Contrast Sensitivity Without Glare at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 months]
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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]
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Percent Change in Adjusted Melanin Index at 9 Months Compared to Baseline
[Time Frame: Baseline and 9 Months]
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Percent Change in Hair Melanin at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 months]
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Percent Change in Melanin Index at 3 Months Compared to Baseline
[Time Frame: Baseline and 3 Months]
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Qualitative Change in Fundus Pigmentation at 12 Months Compared to Previous Visit.
[Time Frame: 9 Months and 12 months]
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Qualitative Change in Fundus Pigmentation at 9 Months Compared to Previous Visit.
[Time Frame: 6 Months and 9 months]
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Absolute Change in Contrast Sensitivity Without Glare at 6 Months Compared to Baseline
[Time Frame: Baseline and 6 months]
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Absolute Change in Semi-quantitative Iris Pigmentation for Each Eye at 12 Months as Compared to Baseline
[Time Frame: Baseline and 12 months]
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Percent Change in Melanin Index at 6 Months Compared to Baseline
[Time Frame: Baseline and 6 Months]
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Percent Change in Semi-quantitative Iris Pigmentation for Each Eye at 3 Months as Compared to Baseline
[Time Frame: Baseline and 3 months]
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Percent Change in Semi-quantitative Iris Pigmentation for Each Eye at 9 Months as Compared to Baseline
[Time Frame: Baseline and 9 months]
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Qualitative Change in Hair Pigmentation at 6 Months Compared to Previous Visit.
[Time Frame: 3 Months and 6 months]
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Qualitative Change in Skin Pigmentation at 6 Months Compared to Previous Visit.
[Time Frame: 3 Months and 6 months]
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Absolute Change in Contrast Sensitivity With High Glare at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 months]
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Absolute Change in Contrast Sensitivity With High Glare at 6 Months Compared to Baseline
[Time Frame: Baseline and 6 months]
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Absolute Change in Electronic Visual Acuity at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 months]
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Absolute Change in Melanin Index at 6 Months Compared to Baseline
[Time Frame: Baseline and 6 Months]
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Absolute Change in Semi-quantitative Iris Pigmentation for Each Eye at 9 Months as Compared to Baseline
[Time Frame: Baseline and 9 months]
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Absolute Change in Adjusted Melanin Index at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 Months]
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Absolute Change in Adjusted Melanin Index at 6 Months Compared to Baseline
[Time Frame: Baseline and 6 Months]
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Absolute Change in Contrast Sensitivity Without Glare at 3 Months Compared to Baseline
[Time Frame: Baseline and 3 months]
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Absolute Change in Electroretinogram (ERG) at Month 6 as Compared to Baseline.
[Time Frame: Baseline and 6 months]
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Absolute Change in Melanin Index at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 Months]
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Percent Change in Adjusted Melanin Index at 3 Months Compared to Baseline
[Time Frame: Baseline and 3 Months]
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Qualitative Change in Skin Pigmentation at 3 Months Compared to Previous Visit.
[Time Frame: Baseline and 3 months]
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Absolute Change in Adjusted Melanin Index at 3 Months Compared to Baseline
[Time Frame: Baseline and 3 Months]
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Absolute Change in Contrast Sensitivity With High Glare at 9 Months Compared to Baseline
[Time Frame: Baseline and 9 months]
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Absolute Change in Contrast Sensitivity With Medium Glare at 6 Months Compared to Baseline
[Time Frame: Baseline and 6 months]
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Absolute Change in Contrast Sensitivity Without Glare at 9 Months Compared to Baseline
[Time Frame: Baseline and 9 months]
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Absolute Change in Contrast Sensitivity With Medium Glare at 3 Months Compared to Baseline
[Time Frame: Baseline and 3 months]
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Absolute Change in Adjusted Melanin Index at 9 Months Compared to Baseline
[Time Frame: Baseline and 9 Months]
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Absolute Change in Contrast Sensitivity With Medium Glare at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 months]
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Absolute Change in Electronic Visual Acuity at 9 Months Compared to Baseline
[Time Frame: Baseline and 9 months]
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Absolute Change in Electroretinogram (ERG) at Month 12 as Compared to Baseline.
[Time Frame: Baseline and 12 months]
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Absolute Change in Semi-quantitative Iris Pigmentation for Each Eye at 6 Months as Compared to Baseline
[Time Frame: Baseline and 6 months]
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Percent Change in Adjusted Melanin Index at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 Months]
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Percent Change in Semi-quantitative Iris Pigmentation for Each Eye at 6 Months as Compared to Baseline
[Time Frame: Baseline and 6 months]
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Qualitative Change in Hair Pigmentation at 9 Months Compared to Previous Visit.
[Time Frame: 6 Months and 9 months]
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Absolute Change in Hair Melanin at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 months]
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Absolute Change in Melanin Index at 3 Months Compared to Baseline
[Time Frame: Baseline and 3 Months]
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Absolute Change in Melanin Index at 9 Months Compared to Baseline
[Time Frame: Baseline and 9 Months]
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Absolute Change in Semi-quantitative Iris Pigmentation for Each Eye at 3 Months as Compared to Baseline
[Time Frame: Baseline and 3 months]
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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]
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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]
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Percent Change in Melanin Index at 9 Months Compared to Baseline
[Time Frame: Baseline and 9 Months]
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Qualitative Change in Fundus Pigmentation at 6 Months Compared to Previous Visit.
[Time Frame: 3 Months and 6 months]
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Qualitative Change in Hair Pigmentation at 3 Months Compared to Previous Visit.
[Time Frame: Baseline and 3 months]
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Qualitative Change in Fundus Pigmentation at 3 Months Compared to Previous Visit.
[Time Frame: Baseline and 3 months]
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Qualitative Change in Skin Pigmentation at 12 Months Compared to Previous Visit.
[Time Frame: 9 Months and 12 months]
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Qualitative Change in Skin Pigmentation at 9 Months Compared to Previous Visit.
[Time Frame: 6 Months and 9 months]
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Absolute Change in Electronic Visual Acuity at 3 Months Compared to Baseline
[Time Frame: Baseline and 3 months]
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Absolute Change in Electronic Visual Acuity at 6 Months Compared to Baseline
[Time Frame: Baseline and 6 months]
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Percent Change in Adjusted Melanin Index at 6 Months Compared to Baseline
[Time Frame: Baseline and 6 Months]
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Percent Change in Melanin Index at 12 Months Compared to Baseline
[Time Frame: Baseline and 12 Months]
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Percent Change in Semi-quantitative Iris Pigmentation for Each Eye at 12 Months as Compared to Baseline
[Time Frame: Baseline and 12 months]
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Qualitative Change in Hair Pigmentation at 12 Months Compared to Previous Visit.
[Time Frame: 9 Months and 12 months]
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