# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!

 

Meckel syndrome, type 4

Get Update

Clinical Trials

This information is provided by ClinicalTrials.gov

Search Clinical Trials
Displaying 1-5 of 5 results.
Study to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
Status: Completed
Last Changed: Jan 18, 2020
First Received: May 04, 2017
Disease(s): Leber's Congenital Amaurosis
Intervention(s): QR-110
Locations: University of Iowa, Iowa City, Iowa, United States
Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, United States
Ghent University Hospital and Ghent University, Ghent, Belgium
Extension Study to Study PQ-110-001 (NCT03140969)
Status: Active, not recruiting
Last Changed: Jan 21, 2020
First Received: Apr 12, 2019
Disease(s): Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders, Sensation Disorders, Neurologic Manifestations, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Retinal Disease
Intervention(s): QR-110
Locations: University of Iowa, Iowa City, Iowa, United States
Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, United States
Ghent University Hospital and Ghent University, Ghent, Belgium
Single Ascending Dose Study in Participants With LCA10
Status: Recruiting
Last Changed: Sep 18, 2020
First Received: Mar 13, 2019
Disease(s): Blindness, Leber Congenital Amaurosis 10, Vision Disorders, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Retinal Disease, Retinal Degeneration
Intervention(s): AGN-151587
Locations: Bascom Palmer Eye Institute, Miami, Florida, United States
Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States
W.K. Kellogg Eye Center - University of Michigan, Ann Arbor, Michigan, United States
Casey Eye Institute - OSHU, Portland, Oregon, United States
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
Status: Recruiting
Last Changed: Jul 23, 2020
First Received: Apr 12, 2019
Disease(s): Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders, Sensation Disorders, Neurologic Manifestations, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Retinal Disease
Intervention(s): sepofarsen, Sham
Locations: University of Miami - Bascom Palmer Eye Institute, Miami, Florida, United States
University of Iowa, Iowa City, Iowa, United States
Columbia University Medical Center, New York, New York, United States
Casey Eye Institute - Oregon Health & Science University, Portland, Oregon, United States
University of Pennsylvania - Center for Advanced Retinal & Ocular Therapeutics, Philadelphia, Pennsylvania, United States
... and 13 other locations.
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Status: Completed
Last Changed: Jun 03, 2010
First Received: Apr 01, 2009
Disease(s): Joubert Syndrome, Cerebello-oculo-renal Syndromes
Intervention(s): Whole blood sample
Locations: Hopital Trousseau, Paris, France