Scientists investigate rare eye disease that blinds young boys
NCT ID NCT00055029
First seen Jun 24, 2026 · Last updated Sep 02, 2026 · Updated 17 times
Summary
This study looks at X-linked juvenile retinoschisis (XLRS), a rare inherited eye disease that causes vision loss in young males. Researchers will examine 351 participants, including affected males and female carriers, using eye exams, retinal photos, and genetic tests. The goal is to better understand how the disease develops and progresses, which could pave the way for future treatments.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could provide a detailed understanding of how XLRS progresses, which may guide the development of future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It will not directly benefit participants and may not lead to a therapy for many years.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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351 people
The number who actually took part.
- Started
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May 2003
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Up to 500 participants may enroll in this study. A minimum of 150 of participants are expected to be males diagnosed with X-Linked Retinoschisis. Participants may be recruited from the NIH and also from participating off-site locations.
- Ages
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9 months to 100 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* INCLUSION CRITERIA: Eligible participants must satisfy one of the criteria below: * Male diagnosed with X-Linked Juvenile Retinoschisis (proband). A proband will be defined as the first X-Linked Juvenile Retinoschisis diagnosed male in a given family who contacts the NIH for participation in the study; or * Female who is a suspected carrier (i.e., mother of proband); or * Other relative of proband including affected and unaffected males and females. The participant (or the participant s legal guardian) understands and signs this protocol s informed consent document and minor participants between the ages of 7 and 17 must provide assent. EXCLUSION CRITERIA: Affected males will be ineligible for participation if: * The participant has a significant media opacity or other obstruction precluding a complete fundus examination including retinal photography. * The participant is unwilling or unable to contribute a blood sample for genotyping if there is not existing genetic analysis data from a documented family member. Both affected and unaffected individuals will be ineligible for participation if: * The participant is younger than two years (seen at the NIH) or younger than nine months (participating offsite through medical record review and blood submission). * The participant is unable to cooperate with study procedures without anesthesia.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
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William Beaumont Hospital
Rochester, Michigan, 48309, United States
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