Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy

NCT00422721 | Completed

• 2 other identifiers: BRD 06/8-FID RCB 2006-A00192-49
• Study Type: interventional
• Target: 360
• Locations: 1 country
• Sites: 1

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.

Conditions

Amaurosis; Retinal Diseases

Keywords

early severe retinal dystrophy; amaurosis of leber

Interventions

realization of a family tree PROCEDURE

refractometry PROCEDURE

evaluation of the presence of a nystagmus PROCEDURE

ocular behavior PROCEDURE

test of baby vision PROCEDURE

test of keenness PROCEDURE

reading test PROCEDURE

visual field PROCEDURE

color vision PROCEDURE

electroretinographical activity PROCEDURE

biomicroscopical test PROCEDURE

retinal imaging PROCEDURE

retinal autofluorescence PROCEDURE

genotyping PROCEDURE

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Nantes University Hospital: lead

Study Sites (1)

CHU de Nantes

Nantes, 44093, France

Location

MeSH Terms

Conditions

Blindness; Retinal Diseases; Retinal Dystrophies

Interventions

Refractometry; Wechsler Scales; Visual Fields; Color Vision; Genotype

Condition Hierarchy (Ancestors)

Vision Disorders; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Eye Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Retinal Degeneration

Intervention Hierarchy (Ancestors)

Chemistry Techniques, Analytical; Investigative Techniques; Intelligence Tests; Aptitude Tests; Psychological Tests; Behavioral Disciplines and Activities; Ocular Physiological Phenomena; Vision, Ocular; Sensation; Nervous System Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena; Genetic Phenomena

Study Officials

• Michel Weber, MD

  Nantes University Hospital

  PRINCIPAL INVESTIGATOR

• Sabine Defoort, MD

  CHU de Lille

  PRINCIPAL INVESTIGATOR

• Bernard Puech, MD

  CHU de Lille

  PRINCIPAL INVESTIGATOR

• Isabelle Drumaré, MD

  CHU de Lille

  PRINCIPAL INVESTIGATOR

• Christian Hamel, MD

  CHU de Montpellier

  PRINCIPAL INVESTIGATOR

• Carl Arndt, MD

  CHU de Montpellier

  PRINCIPAL INVESTIGATOR

• Olivier Roche, MD

  Hôpital Necker

  PRINCIPAL INVESTIGATOR

• Christophe Orssaud, MD

  Hôpital Necker

  PRINCIPAL INVESTIGATOR

• Emmanuel Bui Quoc, MD

  Hôpital Necker

  PRINCIPAL INVESTIGATOR

• Saddek Mohand Saïd, MD

  CNO XV-XX

  PRINCIPAL INVESTIGATOR

• José-Alain Sael, MD

  CNO XV-XX

  PRINCIPAL INVESTIGATOR

• Hélène Dollfus-Waltmann, MD

  CHU de Strasbourg

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: January 12, 2007
• First Posted: January 17, 2007
• Study Start: April 1, 2007
• Last Updated: November 24, 2011

Record last verified: 2011-11

Locations

FR (1)