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Eye Abnormalities clinical trials

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NCT ID: NCT01793168 Recruiting - Clinical trials for Retinitis Pigmentosa

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

CoRDS
Start date: July 2010
Phase:
Study type: Observational [Patient Registry]

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

NCT ID: NCT01740466 Completed - Eye Abnormalities Clinical Trials

Epidemiological Profile of Ophthalmological Care in the Public Service in Brazil

EPP
Start date: March 2012
Phase: N/A
Study type: Observational [Patient Registry]

Epidemiological study about eye discomfort complaints, comorbidities and diagnosis at a Brazil`s ophthalmological public care service

NCT ID: NCT01458613 Withdrawn - Lung Diseases Clinical Trials

Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)

BioMaroteaux
Start date: August 20, 2018
Phase:
Study type: Observational

Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood

NCT ID: NCT00961896 Completed - Clinical trials for Treatment for Basal Cell Carcinomas (BCCs) in Gorlin Syndrome Patients

A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients

Start date: July 2009
Phase: Phase 2
Study type: Interventional

Part I was a double-blind, randomized, vehicle-controlled Proof of Concept (PoC) study to evaluate the safety, local tolerability, pharmacokinetics and pharmacodynamics of multiple topical administrations of LDE225 (a specific Smoothened inhibitor) on skin basal cell carcinomas in Gorlin's syndrome patients. Following a 21-day screening period, patients were exposed to multiple doses of topically applied LDE225 twice daily for 4 weeks in a double-blind manner. The patients returned weekly for visits where each BCC was clinically evaluated and digital photographs taken. Local safety and tolerability was also assessed. After the last application of treatment, biopsies were taken from treated (both vehicle and LDE225) BCCs (three per patient) for histology, biomarker evaluation and for pharmacokinetics (skin exposure). In addition, a biopsy from LDE225-treated uninvolved perilesional skin was taken for pharmacokinetic evaluation. In total, 4 biopsies were taken: 2 for histology and biomarker and 2 for PK. Part II of this study consisted of a 21-day screening period, a baseline period (directly before commencing the treatment period) and a treatment period of 6 or 9 weeks, depending on randomization. A clinical assessment was performed on site on the last treatment day and if a full clinical response had been observed, approximately 3 weeks after the last treatment an excision of the BCC(s) would have been performed. The study completion visit occurred either 1 week after the excision (when this visit was planned) or 1 week after the last treatment. For a subset of patients, skin biopsies were collected on the last treatment day and an excision of a BCC was also performed at that same visit.

NCT ID: NCT00873678 Completed - Joubert Syndrome Clinical Trials

Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome

JSCORS
Start date: March 2007
Phase: N/A
Study type: Observational

Primary objective: - assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS) Secondary objective: - assessment of the prevalence of CEP290 mutations and NPHP1 homozygous deletions in JS/CORS - caracterization of mutational spectrum of AHI1, NPHP1, CEP290 genes in JS/CORS. - evaluation of genotype-phenotype correlation in JS/CORS.

NCT ID: NCT00001161 Completed - Ocular Hypertension Clinical Trials

Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens

Start date: July 1977
Phase: N/A
Study type: Observational

This study will investigate congenital or developmental eye abnormalities that affect the iris, cornea and lens, and are usually accompanied by elevated pressure within the eye. These disorders can cause vision loss, and the increased eye pressure can lead to glaucoma, a condition that may also cause loss of eyesight. Patients with eye anterior chamber eye disease, such as Axenfeld's syndrome, Rieger's anomaly, Peter's anomaly, iridocorneal endothelial syndrome, megalocornea, ocular hypertension, and others, are eligible for this study. Participants will have a medical examination, family history, and comprehensive eye examination. Tests and procedures may include photographs of the cornea, iris, and the structure through which fluid that normally circulates behind the cornea drains out of the eye. Some patients may undergo indentation tonography to measure how easily this fluid drains. In this procedure, the patient lies on an examination table and both eyes are numbed with eye drops. A small instrument (tonometer) is placed on the surface of one eye, and with the other eye, the patient looks at an overhead light. Other tests may include photographs of the back of the eye and ultrasound imaging of the structures of the eye. A blood sample may be drawn to study the genetic disorder responsible for the disease. Patients will have follow-up examinations every 6 months for the duration of the study. Medical or surgical therapy will be recommended, as appropriate, for patients who develop elevated eye pressure or vision loss.