Albinism, OcularPLAIBNCT06345976
Functional Impairment in Albinism
An observational study of Albinism, Ocular, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
Trial summary
Albinism is a genetic and hereditary anomaly that affects pigmentation. This pathology is characterized by a deficit in melanin production. In humans, the clinical diagnosis of albinism is based on a number of factors, including : In the integumentary region: fair skin tone, with white hair, eyelashes and eyebrows. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Albinism, Ocular
- What is being tested?
- questionnaire
- How many people
- 50 participants
- Where
- 1 siteFrance
- Study dates
- 1 Oct 2024to 1 Oct 2025
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients will be identified in the hospital's database, or may be contacted by patient associations.
Who may be able to join
- All patients with albinism
- Patients > 18 years of age
- Non-opposition to study participation
Who cannot join
- No diagnosis according to Kruijt et al. criteria Impossibility (visual, technological) of completing questionnaire
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpital Fondation A. de Rothschild
Paris, 75019
Raphaël Lejoyeux, +33148036437, rlejoyeux@for.paris
About this study
Albinism is a genetic and hereditary anomaly that affects pigmentation. This pathology is characterized by a deficit in melanin production. In humans, the clinical diagnosis of albinism is based on a number of factors, including :
- In the integumentary region: fair skin tone, with white hair, eyelashes and eyebrows.
- Ophthalmological: reduced visual acuity, photophobia, nystagmus, transilluminated blue irises, hypopigmentation of the retina at the back of the eye with fovea plana.
As treatment options begin to emerge for certain albinism-induced anomalies (including, for example, the depigmentation that causes photophobia), it is desirable to understand what these patients' complaints are, and to gather their views on the emergence of treatments targeting just one of their complaints, namely glare.
- Conditions
- Albinism, Ocular
- Being tested
- questionnaire
- Medical subject headings
- Albinism, Ocular
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
questionnaireOther
On-line self-questionnaire, in the form of an 18-question form, the link to which is sent by e-mail to patients with albinism who have agreed to take part in the study.
What is being measured
The primary outcome is the main question the study is designed to answer.
To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity.
To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity.
Percentage of positive responses to question "Would you be interested in the possibility of a treatment for glare if it did not improve the quality of vision or visual stability?"
Measured: Day0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Apr 2024
- Study start1 Oct 2024
- Primary completion1 Oct 2025 (estimated)
- Study completion1 Oct 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Albinism, OcularStudies 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
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Sponsor type
- Research network
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06345976
- Sponsor's protocol ID
- RLX_2023_10
- Acronym
- PLAIB
- Status last verified
- Feb 2025
- First submitted
- 28 Mar 2024
- Last updated
- 13 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Functional Impairment in Albinism
- ClinicalTrials.gov ID
- NCT06345976
- Acronym / sponsor ID
- PLAIB / RLX_2023_10
- Conditions
- Albinism, Ocular
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Fondation Ophtalmologique Adolphe de RothschildResearch network
- Study start
- 1 Oct 2024 (actual)
- Primary completion
- 1 Oct 2025 (estimated)
- Study completion
- 1 Oct 2025 (estimated)
- First posted
- 3 Apr 2024 (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.
Albinism is a genetic and hereditary anomaly that affects pigmentation. This pathology is characterized by a deficit in melanin production. In humans, the clinical diagnosis of albinism is based on a number of factors, including :
- In the integumentary region: fair skin tone, with white hair, eyelashes and eyebrows.
- Ophthalmological: reduced visual acuity, photophobia, nystagmus, transilluminated blue irises, hypopigmentation of the retina at the back of the eye with fovea plana.
As treatment options begin to emerge for certain albinism-induced anomalies (including, for example, the depigmentation that causes photophobia), it is desirable to understand what these patients' complaints are, and to gather their views on the emergence of treatments targeting just one of their complaints, namely glare.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients will be identified in the hospital's database, or may be contacted by patient associations.
Key inclusion criteria (3 listed)
- All patients with albinism
- Patients > 18 years of age
- Non-opposition to study participation
Key exclusion criteria (1 listed)
- No diagnosis according to Kruijt et al. criteria Impossibility (visual, technological) of completing questionnaire
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| questionnaireOn-line self-questionnaire, in the form of an 18-question form, the link to which is sent by e-mail to patients with albinism who have agreed to take part in the study. | Other | – |
Primary outcome
To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity.
Time frame: Day0
To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity. Percentage of positive responses to question "Would you be interested in the possibility of a treatment for glare if it did not improve the quality of vision or visual stability?"
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 13 Feb 2025.
- Individual participant dataSharing planned: No
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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.
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 Albinism, Ocular, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
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 3 inclusion and 1 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 13 Feb 2025. 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 France. 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 Amélie Yavchitz (+33148036454, ayavchitz@for.paris), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To determine whether patients with albinism would be interested in a treatment that could improve their glare without improving their visual acuity. (time frame: Day0). 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 13 Feb 2025.