3 Clinical Trials for Various Conditions
Strabismus (misalignment of the eyes) often runs in families. In this study, the investigators are looking for genetic variants associated with strabismus and nystagmus. Three types of subects will be enrolled: (1) Families with at least 3 members with strabismus, (2) individuals with infantile esotropia and their parents and siblings, and (3) individuals with infantile nystagmus and their parents. Whole exome and/or whole genome sequencing will be used to identify genetic variants shared by family members with strabismus and to identify genetic causes of nystagmus.
This study will examine the safety and effectiveness of a new surgical procedure to correct congenital nystagmus-a disorder of eye muscle-vision-brain coordination characterized by rapid to and fro eye movements (oscillation). Nystagmus usually begins in infancy or early childhood; its effect on vision varies greatly among patients. Current treatments, such as prism glasses, acupuncture, electronic nerve stimulation, contact lenses, various drug treatments, and others have had limited success. Patients with congenital nystagmus sometimes have other eye problems as well, such as cataracts, glaucoma, astigmatism or strabismus (cross-eyes). When these patients have eye muscle surgery to correct a problem, such as strabismus, their nystagmus also improves. Researchers think that simply cutting the muscles might produce this beneficial effect. This study will test this hypothesis-the horizontal muscles of the eye will be cut and then reattached in the same position. This procedure has been tried in one sheepdog with good results. This small preliminary trial will include five adult patients with congenital nystagmus who have no other treatment options. It will evaluate the safety of the surgery and its effect on eye oscillation and vision. If the procedure is found to be safe, additional patients will be studied. Patients will have a medical history, basic physical examination, complete eye examination, and electro-oculography (eye movement recordings) to determine if eligibility for the study. Those accepted into the study will undergo eye muscle surgery and followup eye examinations and electro-oculography at 1 week, 6 weeks, 6 months, 1 year, 2 years and 3 years after surgery.
Primary: The primary objective of this study under the original protocol was to provide neuromuscular specialists and neurologists access to amifampridine phosphate therapy for their patients with LEMS, CMS or downbeat nystagmus until the product became commercially available. Secondary: The secondary objective of this study under the original protocol was to provide additional long-term safety data on amifampridine phosphate in patients. Primary The primary objective of this study after its fifth amendment was to provide access to amifampridine phosphate therapy to pediatric patients with LEMS, and pediatric and adult patients with CMS until the product became commercially available for these indications or development of the product for the indication was terminated. Secondary: The secondary objective of this study after its fifth amendment was to assess the long-term safety of amifampridine phosphate in pediatric patients with LEMS, and pediatric and adult patients with CMS.