Oculocutaneous AlbinismNCT00808106
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
An observational study of Oculocutaneous Albinism, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
Oculocutaneous albinism (OCA) is a term used to describe inherited forms of hypopigmentation associated with 1) variable levels of cutaneous hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of both of the major developmental types of pigmented cells, i.e., melanocytes and retinal… Read more about this study
- Who is it for?
- Ages 1 year to 80 years
- Conditions the study is for
- Oculocutaneous Albinism
- How many people
- 206 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Dec 2008to 31 Dec 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with albinism
Who may be able to join
- Patients will be screened by requesting copies of the following materials at the time they contact the program:
- An indication of ethnic background by the potential participant, which may be unknown .
- Photographs of the potential participant that give an indication of skin complexion/pigmentation and undyed hair color (if available).
- Ophthalmology or other visual specialist records documenting visual exam characteristics, potentially including iris transillumination, visual evoked potential and or characteristic eye findings (if available).
- Genetic testing results (if available).
Who cannot join
- Exclusion from the study will be made based on one or more of the following criteria:
- Significant evidence that the potential participant has either OCA1A or OCA2 with a typical presentation, AND has an ethnic background that is wellrepresented in the current study (proportion in study exceeding the proportion in the United States population).
- The rationale for this exclusion is that: 1) from a biologicaland clinicalresearch perspective, we have an adequate number of OCA1A/
- OCA2 cases in the current study population; and 2) that, despite this, persons with ethnicities that are underrepresented in the study may inform our understanding of populationlevel molecular patterns in OCA1A/ OCA2 and cultural implications of albinism.
- Persons who are under 1 year of age. This exclusion occurs because there is no urgency for a very early evaluation. Also, the Clinical Center staff and resources are more suited for the care of older children.
- Persons who are too sick to travel safely to the NIH Clinical Center.
Show all 11Show fewer
- A judgment by the principal investigator that clinical resources are not available to enroll additional patients at any given time.
- Persons who are currently incarcerated.
- Adults who are incompetent to consent to the protocol.
- Persons who have been diagnosed with a known nonoculocutaneous disorder of hypopigmentation such as HemanskyPudlak Syndrome, ChediakHigashi Syndrome, or Griscelli Syndrome.
- Persons who have been diagnosed with a known disorder of focal hypopigmentation such as Waardenburg syndrome.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism
Oculocutaneous albinism (OCA) is a term used to describe inherited forms of hypopigmentation associated with 1) variable levels of cutaneous hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of both of the major developmental types of pigmented cells, i.e., melanocytes and retinal pigment epithelium. OCA that affects only usually-pigmented tissues is termed isolated OCA. There are currently seven albinism types (OCA-1 to OCA-7). With the exception of OCA-5, eash is associated with a specific gene and is inherited in an autosomal recessive manner OCA-5 is a proposed type of albinism associated with the chromosomal location 4q24. OCA-1 results from defects in the enzyme tyrosinase, which catalyzes the rate-limiting step in melanin synthesis. The precise functions of the remaining genes are not yet fully understood, but several may be associated with the regulation of pH in the subcellular organelle where melanin in manufactured-the melanosome. The majority of persons with OCA have two pathogenic mutations identified in a known OCA-causing gene, but a substantial minority to not. Ocular albinism (OA) is an X-linked disorder caused by mutations in the GPR143 gene. It affects the eye in a manner similar to OCA, but has minimal or no skin manifestations.
In this protocol, we have four major goals:
Read more
- To clinically and comprehensively characterize OCA types 1 - 7, and OA, with respect to the degree of hypopigmentation, genetic mutations, extent of ocular involvement, and longitudinal variation.
- To use study participants cultured melanocytes to study pigment biology, variability in pigment formation related to genotype, and response to proposed treatments. Some of this work will be performed collaboratively.
- To recruit study participants with hypopigmentation not due to known albinismcausing genes.
- To evaluate methods of quantifying eye pigmentation, skin pigmentation and other clinical parameters that may be usable as outcome measures in future treatment studies.
To achieve those goals, we will perform clinical evaluations of persons with OCA and OA at the NIH Clinical Center; obtain cultured cells, plasma, serum and urine for future studies; and, perform mutation analysis on known OCA and/or OA genes and search for other genes responsible for albinism. Routine admissions will last 3 - 4 days and occur every 2 - 3 years.
Read the detailed description
Oculocutaneous albinism (OCA) is a term used to describe inherited forms of hypopigmentation associated with 1) variable levels of cutaneous hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of both of the major developmental types of pigmented cells, i.e., melanocytes and retinal pigment epithelium. OCA that affects
only usually-pigmented tissues is termed isolated OCA. There are currently seven albinism
types (OCA-1 to OCA-7). With the exception of OCA-5, eash is associated with a specific
gene and is inherited in an autosomal recessive manner (see Table 1). OCA-5 is a proposed
type of albinism associated with the chromosomal location 4q24. OCA-1 results from defects
in the enzyme tyrosinase, which catalyzes the rate-limiting step in melanin synthesis. The
precise functions of the remaining genes are not yet fully understood, but several may be
associated with the regulation of pH in the subcellular organelle where melanin in
manufactured the melanosome. The majority of persons with OCA have two pathogenic
mutations identified in a known OCA-causing gene, but a substantial minority to not. Ocular
albinism (OA) is an X-linked disorder caused by mutations in the GPR143 gene. It affects the
eye in a manner similar to OCA, but has minimal or no skin manifestations.
In this protocol, we have four major goals:
- To clinically and comprehensively characterize OCA types 1 7, and OA, with respect to the degree of hypopigmentation, genetic mutations, extent of ocular involvement, and longitudinal variation.
- To use study participants cultured melanocytes to study pigment biology, variability in pigment formation related to genotype, and response to proposed treatments. Some of this work will be performed collaboratively
- To recruit study participants with hypopigmentation not due to known albinismcausing genes.
- To evaluate methods of quantifying eye pigmentation, skin pigmentation and other clinical parameters that may be usable as outcome measures in future treatment studies.
To achieve those goals, we will perform clinical evaluations of persons with OCA and OA at
the NIH Clinical Center; obtain cultured cells, plasma, serum and urine for future studies; and,
perform mutation analysis on known OCA and/or OA genes and search for other genes
responsible for albinism. Routine admissions will last 3 - 4 days and occur every 2 - 3 years.
- Conditions
- Oculocutaneous Albinism
- Keywords
- Oculocutaneous Albinism
- Medical subject headings
- Albinism, Oculocutaneous
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Albinism | Patients with albinism |
What is being measured
The primary outcome is the main question the study is designed to answer.
A
Collect data to refine existing knowledge about the range, course and severity of the visual, cutaneous, auditory and other potentialmanifestations of the various forms of OCA and of OA
Measured: Ongiong
B
Conduct laboratory studies on patients cultured melanocytes and other biologic specimens to further understand the cell biology ofpigment formation relative to genetic mutation
Measured: Ongoing
C
Pursue the discovery of novel molecular defects in patients who have albinism caused by mutations in pigmentation-related genes that have not yet been proven to be associated with human pigmentation disorders
Measured: Ongoing
D
Search for and evaluate methods of quantifying eye pigmentation, skin pigmentation and other clinical parameters that may be usable as outcome measures in future treatment studies
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Dec 2008 (estimated)
- Study start11 Dec 2008
- Primary completion31 Dec 2019
- Study completion31 Dec 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Oculocutaneous AlbinismStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 206 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- David R Adams, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00808106
- Sponsor's protocol ID
- 090035
- Other IDs
- 09-HG-0035
- Status last verified
- Jan 2020
- First submitted
- 12 Dec 2008
- Last updated
- 6 Jan 2020
- Results posted
- No
Publications
Goding CR. Melanocytes: the new Black. Int J Biochem Cell Biol. 2007;39(2):275-9. doi: 10.1016/j.biocel.2006.10.003. Epub 2006 Oct 7.
PubMed 17095283King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003 Nov;113(6):502-13. doi: 10.1007/s00439-003-0998-1. Epub 2003 Sep 10.
PubMed 13680365Creel D, O'Donnell FE Jr, Witkop CJ Jr. Visual system anomalies in human ocular albinos. Science. 1978 Sep 8;201(4359):931-3. doi: 10.1126/science.684419.
PubMed 684419
Study at a glance
From the registry record, last updated by the sponsor on 6 Jan 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical, Cellular, and Molecular Investigations Into Oculocutaneous Albinism
- ClinicalTrials.gov ID
- NCT00808106
- Acronym / sponsor ID
- 090035
- Conditions
- Oculocutaneous Albinism
- Keywords
- Oculocutaneous Albinism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 206 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 11 Dec 2008 (actual)
- Primary completion
- 31 Dec 2019 (actual)
- Study completion
- 31 Dec 2019 (actual)
- First posted
- 15 Dec 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Oculocutaneous albinism (OCA) is a term used to describe inherited forms of hypopigmentation associated with 1) variable levels of cutaneous hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of both of the major developmental types of pigmented cells, i.e., melanocytes and retinal pigment epithelium. OCA that affects only usually-pigmented tissues is termed isolated OCA. There are currently seven albinism types (OCA-1 to OCA-7). With the exception of OCA-5, eash is associated with a specific gene and is inherited in an autosomal recessive manner OCA-5 is a proposed type of albinism associated with the chromosomal location 4q24. OCA-1 results from defects in the enzyme tyrosinase, which catalyzes the rate-limiting step in melanin synthesis. The precise functions of the remaining genes are not yet fully understood, but several may be associated with the regulation of pH in the subcellular organelle where melanin in manufactured-the melanosome. The majority of persons with OCA have two pathogenic mutations identified in a known OCA-causing gene, but a substantial minority to not. Ocular albinism (OA) is an X-linked disorder caused by mutations in the GPR143 gene. It affects the eye in a manner similar to OCA, but has minimal or no skin manifestations.
In this protocol, we have four major goals:
- To clinically and comprehensively characterize OCA types 1 - 7, and OA, with respect to the degree of hypopigmentation, genetic mutations, extent of ocular involvement, and longitudinal variation.
- To use study participants cultured melanocytes to study pigment biology, variability in pigment formation related to genotype, and response to proposed treatments. Some of this work will be performed collaboratively.
- To recruit study participants with hypopigmentation not due to known albinismcausing genes.
- To evaluate methods of quantifying eye pigmentation, skin pigmentation and other clinical parameters that may be usable as outcome measures in future treatment studies.
To achieve those goals, we will perform clinical evaluations of persons with OCA and OA at the NIH Clinical Center; obtain cultured cells, plasma, serum and urine for future studies; and, perform mutation analysis on known OCA and/or OA genes and search for other genes responsible for albinism. Routine admissions will last 3 - 4 days and occur every 2 - 3 years.
Detailed description
Oculocutaneous albinism (OCA) is a term used to describe inherited forms of hypopigmentation associated with 1) variable levels of cutaneous hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of both of the major developmental types of pigmented cells, i.e., melanocytes and retinal pigment epithelium. OCA that affects
only usually-pigmented tissues is termed isolated OCA. There are currently seven albinism
types (OCA-1 to OCA-7). With the exception of OCA-5, eash is associated with a specific
gene and is inherited in an autosomal recessive manner (see Table 1). OCA-5 is a proposed
type of albinism associated with the chromosomal location 4q24. OCA-1 results from defects
in the enzyme tyrosinase, which catalyzes the rate-limiting step in melanin synthesis. The
precise functions of the remaining genes are not yet fully understood, but several may be
associated with the regulation of pH in the subcellular organelle where melanin in
manufactured the melanosome. The majority of persons with OCA have two pathogenic
mutations identified in a known OCA-causing gene, but a substantial minority to not. Ocular
albinism (OA) is an X-linked disorder caused by mutations in the GPR143 gene. It affects the
eye in a manner similar to OCA, but has minimal or no skin manifestations.
In this protocol, we have four major goals:
- To clinically and comprehensively characterize OCA types 1 7, and OA, with respect to the degree of hypopigmentation, genetic mutations, extent of ocular involvement, and longitudinal variation.
- To use study participants cultured melanocytes to study pigment biology, variability in pigment formation related to genotype, and response to proposed treatments. Some of this work will be performed collaboratively
- To recruit study participants with hypopigmentation not due to known albinismcausing genes.
- To evaluate methods of quantifying eye pigmentation, skin pigmentation and other clinical parameters that may be usable as outcome measures in future treatment studies.
To achieve those goals, we will perform clinical evaluations of persons with OCA and OA at
the NIH Clinical Center; obtain cultured cells, plasma, serum and urine for future studies; and,
perform mutation analysis on known OCA and/or OA genes and search for other genes
responsible for albinism. Routine admissions will last 3 - 4 days and occur every 2 - 3 years.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Albinism | – | –Patients with albinism |
Who may qualify
- Ages
- 1 year to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with albinism
Key inclusion criteria (5 listed)
- Patients will be screened by requesting copies of the following materials at the time they contact the program:
- An indication of ethnic background by the potential participant, which may be unknown .
- Photographs of the potential participant that give an indication of skin complexion/pigmentation and undyed hair color (if available).
- Ophthalmology or other visual specialist records documenting visual exam characteristics, potentially including iris transillumination, visual evoked potential and or characteristic eye findings (if available).
- Genetic testing results (if available).
Key exclusion criteria (11 listed)
- Significant evidence that the potential participant has either OCA1A or OCA2 with a typical presentation, AND has an ethnic background that is wellrepresented in the current study (proportion in study exceeding the proportion in the United States population).
- The rationale for this exclusion is that: 1) from a biologicaland clinicalresearch perspective, we have an adequate number of OCA1A/
- OCA2 cases in the current study population; and 2) that, despite this, persons with ethnicities that are underrepresented in the study may inform our understanding of populationlevel molecular patterns in OCA1A/ OCA2 and cultural implications of albinism.
- Persons who are under 1 year of age. This exclusion occurs because there is no urgency for a very early evaluation. Also, the Clinical Center staff and resources are more suited for the care of older children.
- Persons who are too sick to travel safely to the NIH Clinical Center.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
A
Time frame: Ongiong
Collect data to refine existing knowledge about the range, course and severity of the visual, cutaneous, auditory and other potentialmanifestations of the various forms of OCA and of OA
B
Time frame: Ongoing
Conduct laboratory studies on patients cultured melanocytes and other biologic specimens to further understand the cell biology ofpigment formation relative to genetic mutation
C
Time frame: Ongoing
Pursue the discovery of novel molecular defects in patients who have albinism caused by mutations in pigmentation-related genes that have not yet been proven to be associated with human pigmentation disorders
D
Time frame: Ongoing
Search for and evaluate methods of quantifying eye pigmentation, skin pigmentation and other clinical parameters that may be usable as outcome measures in future treatment studies
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Jan 2020.
- Background: PubMed 17095283Goding CR. Melanocytes: the new Black. Int J Biochem Cell Biol. 2007;39(2):275-9. doi: 10.1016/j.biocel.2006.10.003. Epub 2006 Oct 7.
- Background: PubMed 13680365King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003 Nov;113(6):502-13. doi: 10.1007/s00439-003-0998-1. Epub 2003 Sep 10.
- Background: PubMed 684419Creel D, O'Donnell FE Jr, Witkop CJ Jr. Visual system anomalies in human ocular albinos. Science. 1978 Sep 8;201(4359):931-3. doi: 10.1126/science.684419.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
David R Adams, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Oculocutaneous Albinism, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Jan 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
A (time frame: Ongiong). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00808106, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Jan 2020.