Albinism, OcularALAFORNCT03959605
Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
An observational study of Albinism, Ocular, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
Trial summary
Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme 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?
- blood sample for genetic test and Ophtalmological examination
- How many people
- 48 participants
- Where
- 1 siteFrance
- Study dates
- 6 Jan 2019to 1 Oct 2021
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: parents without symptom of albinism (except fovea plana) of children with albinism
Who may be able to join
- children with albinism
- father and mother of children with albinism
Who cannot join
- sign of albinism except fovea plana in father or mother of children with albinism
- ophthalmological abnormalities making access to the fundus with OCT impossible
Trial locations and contacts
1 site in 1 country.
About this study
Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme
- Conditions
- Albinism, Ocular
- Being tested
- blood sample for genetic test, Ophtalmological examination
- Medical subject headings
- Albinism, Ocular
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sample for genetic testGenetic
detection of pathogenic variants among the 19 genes known to be involved in albinism
Ophtalmological examinationDiagnostic test
measurement of visual acuity, OCT and OCTA
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of genetics variants
among the genes involved in albinism, identification of those presents in parents of children with albinism
Measured: 1 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2019
- Study start6 Jan 2019
- Primary completion2 Feb 2021
- Study completion1 Oct 2021
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.
- More trials run by Fondation Ophtalmologique Adolphe de RothschildThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 48 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Sponsor type
- Research network
- Responsible party
- Sponsor
- Investigators
- Martine MAUGET FAYSSE, Principal investigator, Fondation A. de Rothschild
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03959605
- Sponsor's protocol ID
- MMT_2019_2
- Acronym
- ALAFOR
- Status last verified
- Oct 2021
- First submitted
- 18 May 2019
- Last updated
- 21 Oct 2021
- Results posted
- No
- Data monitoring committee
- 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 21 Oct 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
- ClinicalTrials.gov ID
- NCT03959605
- Acronym / sponsor ID
- ALAFOR / MMT_2019_2
- Conditions
- Albinism, Ocular
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 48 participants (actual)
- Lead sponsor
- Fondation Ophtalmologique Adolphe de RothschildResearch network
- Study start
- 6 Jan 2019 (actual)
- Primary completion
- 2 Feb 2021 (actual)
- Study completion
- 1 Oct 2021 (actual)
- First posted
- 22 May 2019 (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.
Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- parents without symptom of albinism (except fovea plana) of children with albinism
Key inclusion criteria (2 listed)
- children with albinism
- father and mother of children with albinism
Key exclusion criteria (2 listed)
- sign of albinism except fovea plana in father or mother of children with albinism
- ophthalmological abnormalities making access to the fundus with OCT impossible
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 |
|---|---|---|
| blood sample for genetic testdetection of pathogenic variants among the 19 genes known to be involved in albinism | Genetic | – |
| Ophtalmological examinationmeasurement of visual acuity, OCT and OCTA | Diagnostic test | – |
Primary outcome
Number of genetics variants
Time frame: 1 month
among the genes involved in albinism, identification of those presents in parents of children with albinism
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 21 Oct 2021.
- 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. This study is not recruiting at the moment.
Martine MAUGET FAYSSE principal investigator
Fondation A. de Rothschild
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 2 inclusion and 2 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 21 Oct 2021. 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?
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?
Number of genetics variants (time frame: 1 month). 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 21 Oct 2021.