AmaurosisNCT00422721
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy
A study testing realization of a family tree, refractometry and evaluation of the presence of a nystagmus in people with Amaurosis and Retinal Diseases, run by Nantes University Hospital at 1 site in France.
Trial summary
Retinal dystrophies are responsible for numerous cases of blindness, and there are no therapeutic possibilities today. Gene therapy is efficient in a dog model concerning dystrophy linked to a mutation of the rpe65 gene. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Amaurosis, Retinal Diseases
- What is being tested?
- realization of a family tree, refractometry and evaluation of the presence of a nystagmus
- Type of treatment
- Surgery or procedure
- How many people
- 360 participants
- Where
- 1 siteFrance
- Study dates
- Apr 2007to not given
- Phase
- Interventional
- 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
Who may be able to join
- Patients with clinical characteristics of amaurosis of Leber
- Patients suffering from an early severe retinal dystrophy
- Patients with social insurance
- Patients with a consent form signed
Who cannot join
- Retinal dystrophy with autosomal dominant transmission
- Retinal dystrophy occuring after 5 years of age
- Syndromical retinal dystrophy with one or more systemic manifestations
- Familial macular degeneration
- Familial choroid dystrophy
- Non-degenerative retinopathology
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy in the Aim of the Realisation of a Clinical Trial of Gene Therapy
Retinal dystrophies are responsible for numerous cases of blindness, and there are no therapeutic possibilities today. Gene therapy is efficient in a dog model concerning dystrophy linked to a mutation of the rpe65 gene. If such a therapy is to be considered for humans, it is urgent to select, at a national level, patients suffering from dystrophy linked to a mutation of the rpe65 gene. The systematic correlation of phenotype/genotype is an anatomical-functional approach, but it also identifies patients who may be potentially included in a future gene therapy study. Indeed, identification of people with a mutation of rpe65 is still insufficient in France (compared to other European countries) because of a lack of systemic genotyping of retinal dystrophy.
- Conditions
- Amaurosis, Retinal Diseases
- Being tested
- realization of a family tree, refractometry, evaluation of the presence of a nystagmus, ocular behavior, test of baby vision
- Keywords
- early severe retinal dystrophy, amaurosis of leber
- Medical subject headings
- Blindness, Retinal Diseases, Retinal Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
realization of a family treeProcedure or surgery
refractometryProcedure or surgery
evaluation of the presence of a nystagmusProcedure or surgery
ocular behaviorProcedure or surgery
test of baby visionProcedure or surgery
test of keennessProcedure or surgery
reading testProcedure or surgery
visual fieldProcedure or surgery
color visionProcedure or surgery
electroretinographical activityProcedure or surgery
biomicroscopical testProcedure or surgery
retinal imagingProcedure or surgery
retinal autofluorescenceProcedure or surgery
genotypingProcedure or surgery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jan 2007 (estimated)
- Study startApr 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AmaurosisStudies of the same condition, open and under way.
- More trials run by Nantes University HospitalThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 360 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Investigators
- Michel Weber, MD, Principal investigator, Nantes University HospitalSabine Defoort, MD, Principal investigator, CHU de LilleBernard Puech, MD, Principal investigator, CHU de LilleIsabelle Drumaré, MD, Principal investigator, CHU de LilleChristian Hamel, MD, Principal investigator, CHU de MontpellierCarl Arndt, MD, Principal investigator, CHU de MontpellierOlivier Roche, MD, Principal investigator, Hôpital NeckerChristophe Orssaud, MD, Principal investigator, Hôpital Necker
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00422721
- Sponsor's protocol ID
- BRD 06/8-F
- Other IDs
- ID RCB 2006-A00192-49
- Status last verified
- Nov 2011
- First submitted
- 12 Jan 2007
- Last updated
- 24 Nov 2011
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Nov 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy in the Aim of the Realisation of a Clinical Trial of Gene Therapy
- ClinicalTrials.gov ID
- NCT00422721
- Acronym / sponsor ID
- BRD 06/8-F
- Conditions
- Amaurosis, Retinal Diseases
- Keywords
- early severe retinal dystrophy, amaurosis of leber
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 360 participants (estimated)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Study start
- Apr 2007
- First posted
- 17 Jan 2007 (estimated)
- 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.
Retinal dystrophies are responsible for numerous cases of blindness, and there are no therapeutic possibilities today. Gene therapy is efficient in a dog model concerning dystrophy linked to a mutation of the rpe65 gene. If such a therapy is to be considered for humans, it is urgent to select, at a national level, patients suffering from dystrophy linked to a mutation of the rpe65 gene. The systematic correlation of phenotype/genotype is an anatomical-functional approach, but it also identifies patients who may be potentially included in a future gene therapy study. Indeed, identification of people with a mutation of rpe65 is still insufficient in France (compared to other European countries) because of a lack of systemic genotyping of retinal dystrophy.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Patients with clinical characteristics of amaurosis of Leber
- Patients suffering from an early severe retinal dystrophy
- Patients with social insurance
- Patients with a consent form signed
Key exclusion criteria (6 listed)
- Retinal dystrophy with autosomal dominant transmission
- Retinal dystrophy occuring after 5 years of age
- Syndromical retinal dystrophy with one or more systemic manifestations
- Familial macular degeneration
- Familial choroid dystrophy
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 |
|---|---|---|
| realization of a family tree | Procedure or surgery | – |
| refractometry | Procedure or surgery | – |
| evaluation of the presence of a nystagmus | Procedure or surgery | – |
| ocular behavior | Procedure or surgery | – |
| test of baby vision | Procedure or surgery | – |
| test of keenness | Procedure or surgery | – |
| reading test | Procedure or surgery | – |
| visual field | Procedure or surgery | – |
| color vision | Procedure or surgery | – |
| electroretinographical activity | Procedure or surgery | – |
| biomicroscopical test | Procedure or surgery | – |
| retinal imaging | Procedure or surgery | – |
| retinal autofluorescence | Procedure or surgery | – |
| genotyping | Procedure or surgery | – |
Primary outcome
Not reported in the source record.
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 24 Nov 2011.
Related trials for Amaurosis
RecruitingPhase 1/2
Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA-Associated Inherited Retinal Degeneration (LCA-IRD)
Leber Congenital Amaurosis, Leber Congenital Amaurosis (LCA)
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingPhase 3
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
Leber Congenital Amaurosis 10, Blindness
Active, not recruitingObservational study
Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)
Inherited Retinal Dystrophy Due to RPE65 Mutations
Active, not recruitingPhase 1/2
Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
Leber Congenital Amaurosis, LCA
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.
Michel Weber, MD principal investigator
Nantes University Hospital
Sabine Defoort, MD principal investigator
CHU de Lille
Bernard Puech, MD principal investigator
CHU de Lille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing realization of a family tree, refractometry and evaluation of the presence of a nystagmus in people with Amaurosis and Retinal Diseases, run by Nantes University Hospital 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 6 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 24 Nov 2011. 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.
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 24 Nov 2011.