MyopiaNCT00341549
Family Myopia Study
An observational study of Myopia, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
This study will try to identify the gene or genes responsible for myopia (nearsightedness) and to examine the relationship between myopia and near work. Myopia is the most common eye disorder in the world, affecting one in four Americans. Several studies indicate that myopia is inherited. Read more about this study
- Who is it for?
- Ages 1 month and older
- Conditions the study is for
- Myopia
- How many people
- 7,477 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Apr 2002to 12 Mar 2020
- 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 month and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The subject population will be adult individuals and their children, in good health with the exception of myopia.@@@@@@
Who may be able to join
- The subject population will be adult individuals and their children, in good health with the exception of myopia.
- Subjects will be chosen based upon vision history of their extended family.
- Preferred subjects will be those who have a family in which myopia passes through several generations along one parent s side only, in which more than one sibling is affected with myopia, but in which no more than one parent is affected.
- Specific eligibility requirements for the index case include:
- Cycloplegic refraction of 1.00 spherical equivalent (as long as there was 1.00D or higher in each meridian if astigmatism is present) or worse in both eyes in those under age 50 to be considered myopic;
- Manifest refraction of 1.00 spherical equivalent (as long as there was 1.00D or higher in each meridian if astigmatism is present) or worse in both eyes in those over age 50 to be considered myopic;
Show all 10Show fewer
- No history of systemic or ocular disease which might predispose to myopia including premature birth;
- The index case should have a familial history of myopia in either their parents or children or other close relatives (suggesting a genetic influence);
- In the event that the parents of the index case have myopia, it is preferred that only one parent be affected with myopia.
- Some of these bilineal families may be collected if necessary to achieve the desired sample size, but unilateral families are preferred.
Who cannot join
- Excluded from the University of Pennsylvania study are those who have severe diseases that involve myopia, such as Stickler s or Marfan syndromes, ocular disease such as Retinitis Pigmentosa, and those with diseases that may secondarily cause myopia such as diabetes or retinopathy of prematurity. Records of eye examinations obtained prior to the onset of systemic or ocular disease will be accepted.
- Individuals who complete the Risk Factor Questionnaire and who state that they were born more than a month prematurely will not be included in the study.
- Individuals who are myopic in one eye and unaffected in the other (ulnilateral myopes) will not be included in the study.
- Individuals who do not sign the Consent Form will be excluded, and families for whom all necessary members do not sign the Consent Form will be excluded.
- No fetuses, pregnant women, prisoners or other institutionalized individuals will be enrolled.
- Generally, myopia itself is not associated with mental impairment, although careful consideration will be given to determining the cognitive understanding of any such potentially impaired person appropriate for enrollment in order to assure that protection of human rights is optimized.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
This study will try to identify the gene or genes responsible for myopia (nearsightedness) and to examine the relationship between myopia and near work. Myopia is the most common eye disorder in the world, affecting one in four Americans. Several studies indicate that myopia is inherited. The condition tends to cluster in families, so that studying families with this condition may facilitate finding the exact cause.
Caucasian Americans and African Americans with myopia who are in general good health may be eligible for this study. People with a family history of myopia through several generations along one parent s side only, and in which more than one sibling has myopia are preferred. People who have severe diseases that involve myopia, such as Stickler s or Marfan syndromes, retinitis pigmentosa or diabetic retinopathy may not participate.
Read more
Participants will undergo the following tests and procedures:
- Eye examination, including refraction
- Blood draw for genetic studies and possibly establishment of cell lines (collection of cells grown in the laboratory from an original tissue specimen) for future research
- Myopia Family Study Questionnaire and personal medical information questionnaire to provide information about other medical conditions that may influence the development of myopia; the vision status of their spouse and children, parents and siblings, and spouse s parents and siblings
- Risk Factor Questionnaire (for Jewish Orthodox community only) to assess the amount of near work activity done in childhood
Read the detailed description
Myopia or nearsightedness, a condition that results in the inability to see distant objects clearly, affects one in four Americans and is the most common eye disorder in the world with an enormous public health and economic impact. Depending on epidemiologic definition, 3-19% of acquired blindness has been ascribed to myopia. Evidence exists that myopia is a complex disorder with a significant genetic component as well as potential environmental influences. Implicating genetic factors, Sorsby et al. found that the trait correlation for monozygotic twins was nearly twice that for dizygotic twins and zero for control pairs. A study, by Chen et al., of Chinese twin pairs found a higher concordance rate of myopia (92.2%) for monozygotic twins with concordant close-work habits, or differences of less than one hour per day spent studying or reading, as compared to monozygotic twins with discordant close-work habits (79.3%). The two studies suggest additive interaction between zygosity and close-work habits.
Since there is a tendency of myopia to cluster in families, studying families with myopia opens the possibility to identify any gene(s) responsible for the pathogenesis of myopia. These genes could provide molecular tools for investigation of inherited myopia and may also provide a starting point for elucidating mechanisms for the influence of near work on the progression of myopia. The goal of this proposal is to identify regions of the human genome that contain the genes responsible for non-syndromic myopia utilizing pedigrees identified by the Myopia Family Study and genotypes generated by Dr. Dwight Stambolian's laboratory at the University of Pennsylvania as well as by the Center for Inherited Disease Research. Pedigree collection is ongoing in several geographic regions including Lakewood, NJ, for the collection of Orthodox Jewish families, Lancaster County, PA for the collection of Amish families, and Philadelphia, for recruitment of families of African American or Chinese American background. Pedigrees of Caucasian descent have also been collected in Philadelphia. All data collection is under the direction of Dr. Stambolian and funded by his grant from the NEI; no NHGRI funds are being used for data collection, and NHGRI investigators do not have any contact with study subjects. Because this disorder is complex and has a high likelihood of being caused by multiple loci, multiple parametric and non-parametric methods of analysis will be employed. Heterogeneity will be taken into account during these analyses, as will environmental covariates, such as the effect of near work, when possible.
- Conditions
- Myopia
- Keywords
- Genetics, Mapping, Gene, Myopia, Nearsightedness
- Medical subject headings
- Myopia
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 |
|---|---|---|
| Myopia | The subject population will be adult individuals and their children, in good health with the exception of myopia. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Myopia Genes
The overall objective for this project is to query the entire human genome to identify the genes responsible for myopia and for variation in ocular refraction.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2006 (estimated)
- Study start29 Apr 2002
- Primary completion12 Mar 2020
- Study completion12 Mar 2020
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 MyopiaStudies 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
- 7,477 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Joan Bailey-Wilson, Ph.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00341549
- Sponsor's protocol ID
- 999902191
- Other IDs
- 02-HG-N191
- Status last verified
- Mar 2020
- First submitted
- 19 Jun 2006
- Last updated
- 13 Mar 2020
- Results posted
- No
Publications
Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA. Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet. 1998 Jul;63(1):109-19. doi: 10.1086/301907.
PubMed 9634508Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, Wilkin DJ, King RA. A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet. 1998 Nov;63(5):1419-24. doi: 10.1086/302111.
PubMed 9792869Sperduto RD, Seigel D, Roberts J, Rowland M. Prevalence of myopia in the United States. Arch Ophthalmol. 1983 Mar;101(3):405-7. doi: 10.1001/archopht.1983.01040010405011.
PubMed 6830491
Study at a glance
From the registry record, last updated by the sponsor on 13 Mar 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Family Myopia Study
- ClinicalTrials.gov ID
- NCT00341549
- Acronym / sponsor ID
- 999902191
- Conditions
- Myopia
- Keywords
- Genetics, Mapping, Gene, Myopia, Nearsightedness
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 7,477 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 29 Apr 2002 (actual)
- Primary completion
- 12 Mar 2020 (actual)
- Study completion
- 12 Mar 2020 (actual)
- First posted
- 21 Jun 2006 (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.
This study will try to identify the gene or genes responsible for myopia (nearsightedness) and to examine the relationship between myopia and near work. Myopia is the most common eye disorder in the world, affecting one in four Americans. Several studies indicate that myopia is inherited. The condition tends to cluster in families, so that studying families with this condition may facilitate finding the exact cause.
Caucasian Americans and African Americans with myopia who are in general good health may be eligible for this study. People with a family history of myopia through several generations along one parent s side only, and in which more than one sibling has myopia are preferred. People who have severe diseases that involve myopia, such as Stickler s or Marfan syndromes, retinitis pigmentosa or diabetic retinopathy may not participate.
Participants will undergo the following tests and procedures:
- Eye examination, including refraction
- Blood draw for genetic studies and possibly establishment of cell lines (collection of cells grown in the laboratory from an original tissue specimen) for future research
- Myopia Family Study Questionnaire and personal medical information questionnaire to provide information about other medical conditions that may influence the development of myopia; the vision status of their spouse and children, parents and siblings, and spouse s parents and siblings
- Risk Factor Questionnaire (for Jewish Orthodox community only) to assess the amount of near work activity done in childhood
Detailed description
Myopia or nearsightedness, a condition that results in the inability to see distant objects clearly, affects one in four Americans and is the most common eye disorder in the world with an enormous public health and economic impact. Depending on epidemiologic definition, 3-19% of acquired blindness has been ascribed to myopia. Evidence exists that myopia is a complex disorder with a significant genetic component as well as potential environmental influences. Implicating genetic factors, Sorsby et al. found that the trait correlation for monozygotic twins was nearly twice that for dizygotic twins and zero for control pairs. A study, by Chen et al., of Chinese twin pairs found a higher concordance rate of myopia (92.2%) for monozygotic twins with concordant close-work habits, or differences of less than one hour per day spent studying or reading, as compared to monozygotic twins with discordant close-work habits (79.3%). The two studies suggest additive interaction between zygosity and close-work habits.
Since there is a tendency of myopia to cluster in families, studying families with myopia opens the possibility to identify any gene(s) responsible for the pathogenesis of myopia. These genes could provide molecular tools for investigation of inherited myopia and may also provide a starting point for elucidating mechanisms for the influence of near work on the progression of myopia. The goal of this proposal is to identify regions of the human genome that contain the genes responsible for non-syndromic myopia utilizing pedigrees identified by the Myopia Family Study and genotypes generated by Dr. Dwight Stambolian's laboratory at the University of Pennsylvania as well as by the Center for Inherited Disease Research. Pedigree collection is ongoing in several geographic regions including Lakewood, NJ, for the collection of Orthodox Jewish families, Lancaster County, PA for the collection of Amish families, and Philadelphia, for recruitment of families of African American or Chinese American background. Pedigrees of Caucasian descent have also been collected in Philadelphia. All data collection is under the direction of Dr. Stambolian and funded by his grant from the NEI; no NHGRI funds are being used for data collection, and NHGRI investigators do not have any contact with study subjects. Because this disorder is complex and has a high likelihood of being caused by multiple loci, multiple parametric and non-parametric methods of analysis will be employed. Heterogeneity will be taken into account during these analyses, as will environmental covariates, such as the effect of near work, when possible.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Myopia | – | –The subject population will be adult individuals and their children, in good health with the exception of myopia. |
Who may qualify
- Ages
- 1 month and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The subject population will be adult individuals and their children, in good health with the exception of myopia.@@@@@@
Key inclusion criteria (10 listed)
- The subject population will be adult individuals and their children, in good health with the exception of myopia.
- Subjects will be chosen based upon vision history of their extended family.
- Preferred subjects will be those who have a family in which myopia passes through several generations along one parent s side only, in which more than one sibling is affected with myopia, but in which no more than one parent is affected.
- Cycloplegic refraction of 1.00 spherical equivalent (as long as there was 1.00D or higher in each meridian if astigmatism is present) or worse in both eyes in those under age 50 to be considered myopic;
- Manifest refraction of 1.00 spherical equivalent (as long as there was 1.00D or higher in each meridian if astigmatism is present) or worse in both eyes in those over age 50 to be considered myopic;
Key exclusion criteria (6 listed)
- Excluded from the University of Pennsylvania study are those who have severe diseases that involve myopia, such as Stickler s or Marfan syndromes, ocular disease such as Retinitis Pigmentosa, and those with diseases that may secondarily cause myopia such as diabetes or retinopathy of prematurity. Records of eye examinations obtained prior to the onset of systemic or ocular disease will be accepted.
- Individuals who complete the Risk Factor Questionnaire and who state that they were born more than a month prematurely will not be included in the study.
- Individuals who are myopic in one eye and unaffected in the other (ulnilateral myopes) will not be included in the study.
- Individuals who do not sign the Consent Form will be excluded, and families for whom all necessary members do not sign the Consent Form will be excluded.
- No fetuses, pregnant women, prisoners or other institutionalized individuals will be enrolled.
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
Myopia Genes
Time frame: Ongoing
The overall objective for this project is to query the entire human genome to identify the genes responsible for myopia and for variation in ocular refraction.
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 13 Mar 2020.
- Background: PubMed 9634508Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA. Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet. 1998 Jul;63(1):109-19. doi: 10.1086/301907.
- Background: PubMed 9792869Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, Wilkin DJ, King RA. A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet. 1998 Nov;63(5):1419-24. doi: 10.1086/302111.
- Background: PubMed 6830491Sperduto RD, Seigel D, Roberts J, Rowland M. Prevalence of myopia in the United States. Arch Ophthalmol. 1983 Mar;101(3):405-7. doi: 10.1001/archopht.1983.01040010405011.
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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.
Joan Bailey-Wilson, Ph.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 Myopia, 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 10 inclusion and 6 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 13 Mar 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?
Myopia Genes (time frame: Ongoing). 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 NCT00341549, 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 13 Mar 2020.