Children aged 6-11-years-old with Cystic Fibrosis who are homozygous for the F508del-CFTR are welcome to volunteer for this study.
This study is being done to learn more about the safety and tolerability of taking lumacaftor with ivacaftor.
Ivacaftor, at a different dose, is approved for some patients aged 6 and older in the US and certain other countries. Ivacaftor is marketed in the US under the trade name Kalydeco. Ivacaftor is experimental in patients with CF that are homozygous for the F508del CFTR mutation.
This research study will test whether or not using an investigational drug called OMS302 during pediatric cataract surgery helps keep the pupil dilated (open) and reduces eye pain after surgery. OMS302 (Omidria™ phenylephrine and ketorolac injection 1%/0.3%) has been approved by United States Food and Drug Administration for use in adults to keep the pupil dilated during surgery and reduce eye pain after the surgery. The use of Omidria™ in children has not been FDA-approved. This study is being done to help gain FDA approval for this drug’s use during cataract surgeries on children up to 3 years old.
The purpose of this study is looking at the use of a treatment for slowing the progression (worsening) of Keratoconus
With the improved survival of very low birth weight (VLBW) infants during the past decade, ROP continues to be a source of significant morbidity. Wide inter-center variability exists in the incidence of severe ROP (stage 3, 4). Quality improvement efforts have reduced the occurrence of ROP but have not eliminated this morbidity which is a common cause for blindness in children. Infants with significant ROP are at increased risk for visual impairment and blindness.1-4
The Early Treatment for Retinopathy of Prematurity Cooperative Group followed infants enrolled in a clinical trial evaluating early treatment for high-risk pre-threshold ROP in eyes that underwent conventional management. The final visual acuity examination at 6 years of age in children enrolled in the study showed a lasting benefit for early treatment of some eyes with ROP. However, the benefit was present only for eyes with Type 1 disease (Zone I, any stage ROP with plus disease; Zone I, stage 3 ROP with or without plus disease; Zone II, stage 2 or 3 ROP with plus disease as defined in the study). Eyes with less severe disease did not show the same benefit. The authors concluded that visual acuity was improved with early treatment, but nevertheless, 65.4% of eyes receiving early treatment develop visual acuity worse than 20/40. The practice change they suggested was that Type 1 eyes should be treated early; however, based on acuity results at 6 years of age, Type 2 eyes should be cautiously monitored for progression to Type 1 eyes.5
Several recent studies have generated significant concern about how best to prevent ROP and when it develops how best to treat severe ROP.6-9 Using lower oxygen saturation is associated with a decrease in severe retinopathy among survivors but it may also be associated with an increase in mortality.6,7 Once severe ROP has developed how best to treat it is also in a state of evolution. Mintz-Hittner and colleagues found that intravitreal bevacizumab monotherapy, as compared with conventional laser therapy, in infants with stage 3+ retinopathy of prematurity showed a significant benefit for zone I but not zone II disease. Development of peripheral retinal vessels continued after treatment with intravitreal bevacizumab, but conventional laser therapy led to permanent destruction of the peripheral retina.9 Their trial was too small to assess safety.
The safety of therapy for retinopathy of prematurity involves not only the eye but also potentially systemic issues.10 Intravitreal bevacizumab reaches the systemic circulation and this raises the concern of untoward effects on the infant’s developing organs. However, such an effect has not been documented. The dose of intravitreal bevacizumab is a fraction of the dose used for cancer treatment, and the amount of circulating bevacizumab is very small. Breakdown of the blood–retina barrier could result in an increase in the level of drug in the circulation, but probably not an
appreciable increase. To determine systemic safety with statistical assurance would require a huge sample size. No such trial is currently planned. Reynolds suggests that continued vigilance will be important as use of the drug increases based on the results of recent clinical trials.10
Factors that influence visual outcomes based on current treatment approaches remains to be determined, but clearly prevention of ROP now assumes an even higher priority since early treatment is beneficial for some eyes but often does not result in normal development of visual acuity. Phase 4 surveillance of drug use, evaluation of the influence of drugs on outcome (pharmacovigilance) and comparative effectiveness research are important. Safety surveillance is designed to detect any rare or long-term adverse effects over a much larger patient population and a longer time period than was possible during the Phase I-III clinical trials. It is not our intent to influence clinical care of these patients but instead to monitor the influence of the prescribed care on outcomes.
The purpose of this project is to develop and test preliminary reliability of a newly developed pediatric tool, the Pediatric Sensory Modality Assessment and Rehabilitation Techniques (SMART), which will measure cognitive awareness for children with severe brain damage. Seven children, between the ages of 3-12 years, with physician-documented severe brain damage and considered medically stable are needed for this study. Recruitment flyers will be disseminated at MUSC and the greater Charleston area community to recruit parents/legal guardians of children with severe brain damage. Once parental/legal guardian and physician consents are in place, participants will be evaluated using the Pediatric SMART 5 times within 10 days. The Pediatric SMART is made up of 5 domains that are olfactory, visual, auditory and vestibular, gustatory, and tactile. Test administration requires approximately 1 hour and can be completed in settings convenient for parents/legal guardians. The potential benefit to study participants is that the findings from the Pediatric SMART may identify sensory and motor strengths of participants. Knowledge of these strengths may enhance current rehabilitation and treatment plans, which may lead to functional improvements; although, this cannot be guaranteed. It is a goal of this study to evaluate the preliminary Pediatric SMART reliability. Once reliability has been substantiated for the Pediatric SMART in further and future study, future children with severe brain injury, being evaluated with the Pediatric SMART, may have rehabilitation and treatments opportunities that are better informed, leading to greater improvement in functional and participatory outcomes.
This study is intended to compare the accuracy of the visual acuity measurement done with a new projected eyechart method when compared to the gold standard (Marco Guyton-Minkowski PAM) before surgery and Snellen wallchart acuity after cataract surgery.
Some doctors feel that a child with hyperopia (farsightedness) should have glasses before any potential vision problems develop. Other doctors feel that children should not be given glasses unless vision problems occur. It is not known if hyperopia should be treated right away or only if other problems occur. This is the reason the study is being done.
The purpose of this study will be to collect a skin biopsy (skin tissue) or blood sample from each participating patient with retinal degeneration, such as Best’s disease or age-related macular degeneration (AMD), including geographic atrophy (GA). Each skin biopsy or blood sample will be taken to the laboratory of the investigators where skin epithelial cells called fibroblasts, will be induced to make “pluripotent stem cells” or “iPSCs”. These iPSCs will be differentiated into retina epithelial cells which will be tested for their ability to function as new retinal cells in animal models of retinal degeneration. Because these special cells are individualized or patient-specific, they will not be rejected by that individual patient, and thereby represent the first step in a potential future treatment for retinal disease. Cells will also be processed at the New York Stem Cell Foundation IPSC core facility using the procedure described above. The Medical University of South Carolina (MUSC) and New York Stem Cell Foundation (NYSCF) will enter into a material transfer agreement (MTA) initiated by the MUSC Foundation for Research Development. Once MTAs are initiated, samples will be coded at MUSC. Coded samples will be sent via dry ice to ensure full competency to the NYSCF. Samples will remain coded at MUSC and will not be released to the NYSCF. Fibroblasts will be reprogrammed using the method described above and sent back to MUSC (as iPS cells) for the research purposes of this study. Cells will only be identifiable to the NYSCF by disease, sex, and gender. Once cells are received by the NYSCF they receive a number bar code for further processing and are in no way traceable to the patient by the NYSCF. Reprogrammed cells will be stored at the NYSCF biorepository but only shared with the knowledge of MUSC. These samples will be used for the purposes of this study. Any other use will be evaluated by the investigators and the MUSC Foundation for Research Development and the appropriate action taken. Once samples are processed that will not be withdrawn from the biorepository. The NYSCF biorepository is a secure facility with only authorized personnel having access to the facility
This research is being done with children who have a condition called intermittent exotropia. Intermittent exotropia is the medical term used when the eyes turn out some of the time and are straight at other times. Intermittent exotropia is one of the most common types of eye misalignment in children.
Intermittent exotropia is often treated with surgery on the eye muscles to make the eyes straight again. There are different ways to do this surgery to straighten the eyes. One way is to operate on two muscles on one eye. Another way is to operate on one muscle on each eye. Both ways of doing the surgery work well but we do not know if one way is better than the other. This is the reason why the study is being done.