3 Clinical Trials for Various Conditions
The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between clinical phenotypes of dystonia, and to (3) collect DNA, detailed family history, and clinical phenotypes from patients with idiopathic dystonia with the goal of identifying new dystonia-related genes. Investigators will be recruiting both healthy control subjects and subjects with any form of dystonia. For this study there will be a maximum of two study visit involving a clinical assessment, collection of medical and family history, task training session, an MRI using the learned tasks, and finally a blood draw for genetic analysis. In total, these visits will take 3-5 hours. If the dystonia subjects receive botulinum toxin injections for treatment, the participants and their matched controls will be asked to come for a second visit.
Background: - Blepharospasm is caused by excessive contraction of the muscles that close the eye. One treatment is botulinum neurotoxin (BoNT), which works by weakening those muscles. Like BoNT, acetyl hexapeptide-8 (AH-8) works to weaken the muscles, but is available as a skin cream. AH-8 is the active ingredient in a number of cosmetic creams used to treat wrinkles. Researchers thought that AH-8 cream could be used to treat blepharospasm, but the original dose studied was not very effective. They want to try a higher dose of AH-8 in a cream to see if it can be a more effective treatment. Objectives: - To see if AH-8 cream can improve the symptoms of blepharospasm. Eligibility: - Individuals at least 18 years of age who have blepharospasm that is severe enough to require treatment. Design: * This study will involve up to eight study visits. * Participants will be screened with a physical exam and medical history. They will answer questions about their symptoms. They will also have a blink test to see how severe the blepharospasm is. At this visit, participants will receive one of three types of cream. One cream will have a low dose of AH-8, one will have a higher dose of AH-8, and the other will be a placebo (no AH-8). * One month later, participants will have a followup visit, with tests similar to the first visit. They will also receive more of the cream. * One month later, participants will have another visit with the same tests. They will be videotaped at this visit to study their facial movements. Those who have responded to the treatment will continue to use the cream. Those who have not responded will be offered the chance to have BoNT injections, and will stop taking the cream. * One month later, participants who had BoNT injections will have a final visit to check for possible side effects. Those who continued to take the cream will continue on the study. * The fifth and sixth visits will involve the same tests as before. At the seventh visit, remaining participants will be offered the chance to have BoNT injections, and will stop taking the cream. * The final visit will check for any side effects from the cream or the injections.
Background: * Blepharospasm is caused by excessive contraction of the muscles that close the eye. It can be treated with injections of botulinum neurotoxin (BoNT), which works by weakening those muscles. * Acetyl Hexapeptide-8 (AH-8) is the active ingredient in a number of cosmetic creams used to treat wrinkles, and is marketed under the trade name Argireline(Copyright). Like BoNT, AH-8 works to weaken the muscles, but is available as a skin cream instead of an injection. AH-8 has never been used to treat people with blepharospasm. Objectives: - To determine if AH-8 can be used as part of a treatment regimen for blepharospasm. Eligibility: - Individuals 18 years of age and older who have blepharospasm and have been receiving successful treatment with botulinum toxin injections. Design: * Participants will be involved in the study for a maximum of 7 months. * Patients will have a complete physical and neurological exam, and will be asked questions about their blepharospasm. Patients will then receive BoNT injections in the same areas of the muscle around the eye and at the same doses that have been effective previously. * After the injections, patients will receive a container of either the active cream (with AH-8) or cream without AH-8, and will be instructed on how to apply it. * Patients will return 1 month after the first visit for another neurologic exam and questions, and will be asked about any side effects. Another supply of cream will be given. * Five additional visits will take place on a monthly basis, and patients will be given additional supplies of the cream as needed. Patients will stop participating in the study if they require another BoNT injection for blepharospasm. The study will end after 7 months.