Albinism, OcularDIANCT04495218
NGS Panel of Incomplete Forms of Ocular Albinism
An observational study of Albinism, Ocular, run by University Hospital, Bordeaux at 1 site in France.
Trial summary
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism. Read more about this study
- Who is it for?
- Ages 0 years and older
- Conditions the study is for
- Albinism, Ocular
- What is being tested?
- Blood samples
- How many people
- 53 participants
- Where
- 1 siteFrance
- Study dates
- 23 Nov 2020to 28 Feb 2024
- 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 0 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient with a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm and having a specialized consultation in CHU de Bordeaux
Who may be able to join
- Minor and adult patient.
- Patient presenting a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm.
- Registered for the social security system.
- Informed consent signed by patient or parent of a minor patient.
Who cannot join
- Refusal to participate in research protocol.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
Read the detailed description
Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopigmentation, translucent irides and nystagmus. The molecular genetic lab at Bordeaux University Hospital is the national reference for the study of this disease. More than 1400 patients have been analyzed with a strategy including next-generation sequencing of the 19 known genes of albinism and array-CGH. Despite this thorough analysis, 25% of patients remain without molecular diagnosis. Our experience tells us that these patients often show an incomplete form of albinism with the presence of only few ophthalmologic signs. The molecular diagnosis is very challenging as the phenotype often overlaps with other ophthalmologic disorders.
- Conditions
- Albinism, Ocular
- Being tested
- Blood samples
- Keywords
- Next generation sequencing, Albinism
- Medical subject headings
- Albinism, Ocular, Albinism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood samplesBiological
Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.
| Study group | Role | What they receive |
|---|---|---|
| Patient with a diagnosis of incomplete form of albinism | Not described Receives: Biological: Blood samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes
the prevalence of finding at least two pathogenic variants is 10%.
Measured: Enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Jul 2020
- Study start23 Nov 2020
- Primary completion28 Feb 2024
- Study completion28 Feb 2024
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 Albinism, OcularStudies 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 53 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04495218
- Sponsor's protocol ID
- CHUBX 2019/52
- Acronym
- DIA
- Status last verified
- Sep 2024
- First submitted
- 20 Jul 2020
- Last updated
- 19 Sep 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Smirnov VM, Lasseaux E, Michaud V, Courdier C, Meunier I, Arveiler B, Defoort-Dhellemmes S. Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia. Doc Ophthalmol. 2024 Aug;149(1):47-52. doi: 10.1007/s10633-024-09979-6. Epub 2024 Jun 26.
PubMed 38922562
Study at a glance
From the registry record, last updated by the sponsor on 19 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism
- ClinicalTrials.gov ID
- NCT04495218
- Acronym / sponsor ID
- DIA / CHUBX 2019/52
- Conditions
- Albinism, Ocular
- Keywords
- Next generation sequencing, Albinism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 53 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 23 Nov 2020 (actual)
- Primary completion
- 28 Feb 2024 (actual)
- Study completion
- 28 Feb 2024 (actual)
- First posted
- 31 Jul 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.
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
Detailed description
Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopigmentation, translucent irides and nystagmus. The molecular genetic lab at Bordeaux University Hospital is the national reference for the study of this disease. More than 1400 patients have been analyzed with a strategy including next-generation sequencing of the 19 known genes of albinism and array-CGH. Despite this thorough analysis, 25% of patients remain without molecular diagnosis. Our experience tells us that these patients often show an incomplete form of albinism with the presence of only few ophthalmologic signs. The molecular diagnosis is very challenging as the phenotype often overlaps with other ophthalmologic disorders.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patient with a diagnosis of incomplete form of albinism | – | Biological: Blood samples |
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient with a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm and having a specialized consultation in CHU de Bordeaux
Key inclusion criteria (4 listed)
- Minor and adult patient.
- Patient presenting a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm.
- Registered for the social security system.
- Informed consent signed by patient or parent of a minor patient.
Key exclusion criteria (1 listed)
- Refusal to participate in research protocol.
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 samplesPerformed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included. | Biological | Patient with a diagnosis of incomplete form of albinism |
Primary outcome
Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes
Time frame: Enrollment
the prevalence of finding at least two pathogenic variants is 10%.
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 19 Sep 2024.
- Derived from this study: PubMed 38922562Smirnov VM, Lasseaux E, Michaud V, Courdier C, Meunier I, Arveiler B, Defoort-Dhellemmes S. Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia. Doc Ophthalmol. 2024 Aug;149(1):47-52. doi: 10.1007/s10633-024-09979-6. Epub 2024 Jun 26.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 University Hospital, Bordeaux 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 4 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 19 Sep 2024. 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?
Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes (time frame: Enrollment). 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 NCT04495218, 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 19 Sep 2024.