Clinical trial NCT00422721: Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy
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
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Amaurosis
Retinal Diseases
Keywords: early severe retinal dystrophy
amaurosis of leber
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
First posted: 2007-01-17
Enrollment: 360
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

Brief 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. 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.


Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

* 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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Nantes
country: France
facility: CHU de Nantes
Study officials:
affiliation: Nantes University Hospital
name: Michel Weber, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: CHU de Lille
name: Sabine Defoort, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: CHU de Lille
name: Bernard Puech, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: CHU de Lille
name: Isabelle Drumaré, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: CHU de Montpellier
name: Christian Hamel, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: CHU de Montpellier
name: Carl Arndt, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Hôpital Necker
name: Olivier Roche, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Hôpital Necker
name: Christophe Orssaud, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Hôpital Necker
name: Emmanuel Bui Quoc, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: CNO XV-XX
name: Saddek Mohand Saïd, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: CNO XV-XX
name: José-Alain Sael, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: CHU de Strasbourg
name: Hélène Dollfus-Waltmann, MD
role: PRINCIPAL_INVESTIGATOR
References: