Stargardt-Like Macular DystrophyNCT04591483
Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
An observational study of Stargardt-Like Macular Dystrophy, run by National Eye Institute (NEI) at 1 site in United States.
Trial summary
Background: STDG3 is an inherited eye disease. Currently there is no treatment for STDG3. Past studies of STDG3 have largely looked at members of large families at a single time point. Researchers want to learn more about the disease at an individual level. Read more about this study
- Who is it for?
- Ages 10 to 100 years
- Conditions the study is for
- Stargardt-Like Macular Dystrophy
- How many people
- 25 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Apr 2022to 16 Jul 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 10 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 25 patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age.
Who may be able to join
- To be eligible, the following inclusion criteria must be met, where applicable.
- Stated willingness to comply with all study procedures and availability for the duration of the study.
- Participant must be at least ten years of age.
- Ability to perform required functional testing and ophthalmic imaging.
- A mutation in ELOVL4 with a typical clinical presentation of Stargardt-like macular dystrophy.
- Participant (or legal guardian) must understand and sign the protocol s informed consent document.
Who cannot join
- A participant is not eligible if any of the following exclusion criteria are present.
- Two or more definitive mutations in ABCA4 and/or one mutation in RDS/peripherin or PROM1.
- Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
Official title: An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
Background:
STDG3 is an inherited eye disease. Currently there is no treatment for STDG3. Past studies of STDG3 have largely looked at members of large families at a single time point. Researchers want to learn more about the disease at an individual level.
Read more
Objective:
To understand the natural history of changes in the retina that occur in people with STDG3.
Eligibility:
People ages 10 and older with STDG3 due to a variant in the ELOVL4 gene.
Design:
Participants will have 6 visits. First they will have a screening visit, followed by a baseline visit. Then they will have a visit 6 months later. Then they will have a visit 1, 2, and 3 years after the first visit. Visits will last 4 to 8 hours.
Visits will include the following:
Medical history and physical exam.
Complete eye exam. Participants' eye pressure and ability to see letters on a vision chart will be tested. Their pupils will be dilated with eye drops. Pictures will be taken of the retina and the inside of the eye.
Questions about participants' family history, especially the presence of eye disease.
Visual field test. Participants will be seated in front of a large dome and asked to press a button when they see a light within the dome.
Electroretinogram. Participants will sit in the dark with their eyes patched for 30 minutes. Then they will wear special contact lenses and watch flashing lights.
Optical coherence tomography. Cross-sectional pictures will be taken of participants' retinas.
Fundus autofluorescence. Blue light will be shone into participants eyes to assess the health of the retina....
Read the detailed description
Title: An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
Study Description: Potential therapeutics for Stargardt-like macular dystrophy (STDG3) have been proposed. Cross-sectional studies of large families suggest progressive macular atrophy in STDG3 but there is a paucity of longitudinal data for these patients. The overall goal is to establish a natural history study of STDG3.
Objectives: The primary objective is to assess the longitudinal changes in retinal structure in STDG3 patients.
The secondary objective is to assess the longitudinal changes in retinal function in STDG3 patients.
An exploratory objective is to assess the longitudinal changes in functional vision and the participant s perceived effect on activities of daily living (e.g., mobility).
Endpoints: The primary endpoints are: A) the growth rate of the square root area of loss of the inner segment/outer segment band (EZband) obtained from spectral-domain optical coherence tomography (SD-OCT) and B) the rate of atrophy enlargement obtained from fundus autofluorescence
The secondary endpoints are: A) the change in BCVA total letters read from baseline to Year 3 and B) the rate of loss of retinal sensitivity measured with perimetry
Study Population: Up to 25 patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age.
Description of Sites/Facilities Enrolling Participants: Patients will be seen in the Ophthalmic Genetics Clinic at the National Eye Institute within the NIH Clinical Center in Bethesda.
Study Duration: 84 months (7 years).
Participant Duration: 36 months (3 years).
- Conditions
- Stargardt-Like Macular Dystrophy
- Keywords
- ABCA4, Oral Metformin, Natural History
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 |
|---|---|---|
| Affected | Patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Growth rate in square root area of loss of the inner segment/outer segment band (EZband)
The growth rate of the square root area of loss of the inner segment/outer segment band (EZband) obtained from SD-OCT.
Measured: Day 1, 182, 364, 728, 1,092
Growth rate of square root area of atrophy measured from short-wavelength autofluorescence
The rate of atrophy enlargement obtained from fundus autofluorescence.
Measured: Day 1, 182, 364, 728, 1,092
Secondary outcomes (2)
The change in BCVA total letters read from baseline to Year 3
The change in BCVA total letters read from baseline to Year 3.
Measured: Day 1, 182, 364, 728, 1,092
The rate of loss of retinal sensitivity measured with perimetry
The rate of loss of retinal sensitivity measured with perimetry.
Measured: Day 1, 182, 364, 728, 1,092
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 2020
- Study start19 Apr 2022
- Primary completion16 Jul 2028 (estimated)
- Study completion16 Jul 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Stargardt-Like Macular DystrophyStudies 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
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Collaborators
- National Cancer Institute (NCI)
- Responsible party
- Sponsor
- Investigators
- Brett G Jeffrey, Ph.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04591483
- Sponsor's protocol ID
- 10000108
- Other IDs
- 000108-EI
- Status last verified
- 15 Sep 2026
- First submitted
- 16 Oct 2020
- Last updated
- 17 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 17 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
- ClinicalTrials.gov ID
- NCT04591483
- Acronym / sponsor ID
- 10000108
- Conditions
- Stargardt-Like Macular Dystrophy
- Keywords
- ABCA4, Oral Metformin, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Collaborators
- National Cancer Institute (NCI)
- Study start
- 19 Apr 2022 (actual)
- Primary completion
- 16 Jul 2028 (estimated)
- Study completion
- 16 Jul 2028 (estimated)
- First posted
- 19 Oct 2020 (actual)
- 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.
Background:
STDG3 is an inherited eye disease. Currently there is no treatment for STDG3. Past studies of STDG3 have largely looked at members of large families at a single time point. Researchers want to learn more about the disease at an individual level.
Objective:
To understand the natural history of changes in the retina that occur in people with STDG3.
Eligibility:
People ages 10 and older with STDG3 due to a variant in the ELOVL4 gene.
Design:
Participants will have 6 visits. First they will have a screening visit, followed by a baseline visit. Then they will have a visit 6 months later. Then they will have a visit 1, 2, and 3 years after the first visit. Visits will last 4 to 8 hours.
Visits will include the following:
Medical history and physical exam.
Complete eye exam. Participants' eye pressure and ability to see letters on a vision chart will be tested. Their pupils will be dilated with eye drops. Pictures will be taken of the retina and the inside of the eye.
Questions about participants' family history, especially the presence of eye disease.
Visual field test. Participants will be seated in front of a large dome and asked to press a button when they see a light within the dome.
Electroretinogram. Participants will sit in the dark with their eyes patched for 30 minutes. Then they will wear special contact lenses and watch flashing lights.
Optical coherence tomography. Cross-sectional pictures will be taken of participants' retinas.
Fundus autofluorescence. Blue light will be shone into participants eyes to assess the health of the retina....
Detailed description
Title: An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
Study Description: Potential therapeutics for Stargardt-like macular dystrophy (STDG3) have been proposed. Cross-sectional studies of large families suggest progressive macular atrophy in STDG3 but there is a paucity of longitudinal data for these patients. The overall goal is to establish a natural history study of STDG3.
Objectives: The primary objective is to assess the longitudinal changes in retinal structure in STDG3 patients.
The secondary objective is to assess the longitudinal changes in retinal function in STDG3 patients.
An exploratory objective is to assess the longitudinal changes in functional vision and the participant s perceived effect on activities of daily living (e.g., mobility).
Endpoints: The primary endpoints are: A) the growth rate of the square root area of loss of the inner segment/outer segment band (EZband) obtained from spectral-domain optical coherence tomography (SD-OCT) and B) the rate of atrophy enlargement obtained from fundus autofluorescence
The secondary endpoints are: A) the change in BCVA total letters read from baseline to Year 3 and B) the rate of loss of retinal sensitivity measured with perimetry
Study Population: Up to 25 patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age.
Description of Sites/Facilities Enrolling Participants: Patients will be seen in the Ophthalmic Genetics Clinic at the National Eye Institute within the NIH Clinical Center in Bethesda.
Study Duration: 84 months (7 years).
Participant Duration: 36 months (3 years).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Affected | – | –Patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age. |
Who may qualify
- Ages
- 10 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 25 patients with Stargardt-like macular dystrophy 3 who are >= 10 years of age.
Key inclusion criteria (6 listed)
- To be eligible, the following inclusion criteria must be met, where applicable.
- Stated willingness to comply with all study procedures and availability for the duration of the study.
- Participant must be at least ten years of age.
- Ability to perform required functional testing and ophthalmic imaging.
- A mutation in ELOVL4 with a typical clinical presentation of Stargardt-like macular dystrophy.
Key exclusion criteria (3 listed)
- A participant is not eligible if any of the following exclusion criteria are present.
- Two or more definitive mutations in ABCA4 and/or one mutation in RDS/peripherin or PROM1.
- Systemic medical contraindications that are rarely associated with ELOVL4 (e.g., Spinocerebellar Ataxia-34).
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
Growth rate in square root area of loss of the inner segment/outer segment band (EZband)
Time frame: Day 1, 182, 364, 728, 1,092
The growth rate of the square root area of loss of the inner segment/outer segment band (EZband) obtained from SD-OCT.
Growth rate of square root area of atrophy measured from short-wavelength autofluorescence
Time frame: Day 1, 182, 364, 728, 1,092
The rate of atrophy enlargement obtained from fundus autofluorescence.
2 secondary outcomes
The change in BCVA total letters read from baseline to Year 3
Time frame: Day 1, 182, 364, 728, 1,092
The rate of loss of retinal sensitivity measured with perimetry
Time frame: Day 1, 182, 364, 728, 1,092
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Sep 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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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.
Brett G Jeffrey, Ph.D. principal investigator
National Eye Institute (NEI)
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 Stargardt-Like Macular Dystrophy, run by National Eye Institute (NEI) 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 6 inclusion and 3 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: looking for participants now, as of the sponsor's last update on 17 Sep 2026. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Daniel W Claus, R.N. ((301) 451-1621, daniel.claus@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Growth rate in square root area of loss of the inner segment/outer segment band (EZband) (time frame: Day 1, 182, 364, 728, 1,092). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 17 Sep 2026.