Oculocutaneous AlbinismGENALBNCT04068961
New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
An observational study of Oculocutaneous Albinism and Mutation, run by University Hospital, Bordeaux.
Trial summary
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Oculocutaneous Albinism, Mutation
- What is being tested?
- Genetic analyzes
- How many people
- 64 participants
- Where
- No sites listed yet
- Study dates
- 15 Sep 2010to 31 Oct 2010
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients having been examined during a genetic consultation, with Oculocutaneous Albinism
Who may be able to join
- -Oculocutaneous albinism (diagnosis validated by a clinician at the initial genetic consultation and did not show mutations of the TYR, OCA2, TYRP1, SLC45A2 genes)
Who cannot join
- None
About this study
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.
Read the detailed description
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.
.
- Conditions
- Oculocutaneous Albinism, Mutation
- Being tested
- Genetic analyzes
- Keywords
- CGH array chip, Homozygosity mapping
- Medical subject headings
- Albinism, Oculocutaneous
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic analyzesOther
Analysis by CGH array, homozygotic cartography and candidate gene sequencing
What is being measured
The primary outcome is the main question the study is designed to answer.
Presence of a genetic anomaly
Analysis by CGH (Comparative Genomic Hybridization) array : The Log2 values of the patient / reference fluorescence intensity ratios (Log2R) are -1 in the case of a heterozygous deletion, 0.5 in the case of heterozygous duplication and 0 in the absence of rearrangement.
Measured: At the screening
Identification of a genetic mutation
By sequencing candidate genes : homozygotic cartography and candidate gene sequencing
Measured: At the screening
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2019
- Study start15 Sep 2010
- Primary completion31 Oct 2010
- Study completion31 Oct 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Oculocutaneous AlbinismStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe 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
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 64 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Fanny MORICE-PICARD, Dr, Principal investigator, University Hospital, Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04068961
- Sponsor's protocol ID
- CHUBX 2010/31
- Acronym
- GENALB
- Status last verified
- Aug 2019
- First submitted
- 22 Aug 2019
- Last updated
- 18 Jun 2026
- Results posted
- No
- Individual data sharing
- No
Publications
Tourdias T, Renou P, Sibon I, Asselineau J, Bracoud L, Dumoulin M, Rouanet F, Orgogozo JM, Dousset V. Final cerebral infarct volume is predictable by MR imaging at 1 week. AJNR Am J Neuroradiol. 2011 Feb;32(2):352-8. doi: 10.3174/ajnr.A2271. Epub 2010 Oct 21.
PubMed 20966063
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
- ClinicalTrials.gov ID
- NCT04068961
- Acronym / sponsor ID
- GENALB / CHUBX 2010/31
- Conditions
- Oculocutaneous Albinism, Mutation
- Keywords
- CGH array chip, Homozygosity mapping
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 64 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 15 Sep 2010 (actual)
- Primary completion
- 31 Oct 2010 (actual)
- Study completion
- 31 Oct 2010 (actual)
- First posted
- 28 Aug 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.
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.
Detailed description
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.
.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients having been examined during a genetic consultation, with Oculocutaneous Albinism
Key inclusion criteria (1 listed)
- -Oculocutaneous albinism (diagnosis validated by a clinician at the initial genetic consultation and did not show mutations of the TYR, OCA2, TYRP1, SLC45A2 genes)
Key exclusion criteria (1 listed)
- None
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 |
|---|---|---|
| Genetic analyzesAnalysis by CGH array, homozygotic cartography and candidate gene sequencing | Other | – |
Primary outcome
Presence of a genetic anomaly
Time frame: At the screening
Analysis by CGH (Comparative Genomic Hybridization) array : The Log2 values of the patient / reference fluorescence intensity ratios (Log2R) are -1 in the case of a heterozygous deletion, 0.5 in the case of heterozygous duplication and 0 in the absence of rearrangement.
Identification of a genetic mutation
Time frame: At the screening
By sequencing candidate genes : homozygotic cartography and candidate gene sequencing
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 18 Jun 2026.
- Results publication: PubMed 20966063Tourdias T, Renou P, Sibon I, Asselineau J, Bracoud L, Dumoulin M, Rouanet F, Orgogozo JM, Dousset V. Final cerebral infarct volume is predictable by MR imaging at 1 week. AJNR Am J Neuroradiol. 2011 Feb;32(2):352-8. doi: 10.3174/ajnr.A2271. Epub 2010 Oct 21.
- 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. This study is not recruiting at the moment.
Fanny MORICE-PICARD, Dr principal investigator
University Hospital, Bordeaux
Questions about this trial
What is this clinical trial studying?
An observational study of Oculocutaneous Albinism and Mutation, run by University Hospital, Bordeaux.
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 1 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: finished, as of the sponsor's last update on 18 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
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?
Presence of a genetic anomaly (time frame: At the screening). 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?
On the ClinicalTrials.gov record for NCT04068961, which also lists 1 linked publication.
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 18 Jun 2026.