UC Davis Health Clinical Studies

A Study to Test Dystrophin (muscle protein) Levels in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

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Your child has been invited to take part in this research study because he has Duchenne Muscular Dystrophy (DMD). DMD is caused by a mutation (or error) in the gene for dystrophin. Dystrophin is a protein that keeps muscles healthy by keeping the structure of muscle cells. One type of mutation in the dystrophin gene is called nonsense mutation. This type of mutation is the cause of DMD in about 15% of boys with the disease. A nonsense mutation in the dystrophin gene causes a premature stop signal. This premature stop signal tells the body to stop making the dystrophin protein in muscle before the protein is complete. The result is a shortened dystrophin protein that does not work and weakens the muscles. The purpose of this research is to measure levels of dystrophin. It will be measured before and after nine months of treatment with an investigational drug called ataluren. This study is for children who: - are at least 2 years old and younger than eight years old. - can walk. - have Duchenne Muscular Dystrophy (DMD) caused by a nonsense mutation of the dystrophin gene.

Drug study, Phase 2
Male, age 2 to 7 years old

A Study of the Long-Term Safety and Tolerability of Experimental ZYN002 in Children and Adolescents With Fragile X Syndrome (FXS)

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Fragile X Syndrome (FXS) is a genetic condition caused by a mutation in the Fragile X mental retardation 1 (FMR1) gene. This mutation is thought to cause changes to the “endocannabinoid system.” This is a certain pathway in the central nervous system. Disruption in this pathway can lead to FXS symptoms such as: - mild to severe intellectual or developmental disability - speech and language difficulties - behavioral, social and emotional difficulties. Cannabidiol (CBD) is part of the Cannabis/Marijuana plant. However, it does not have the same effects on the brain that recreational marijuana has. It may affect the endocannabinoid pathway. The Drug Product ZYN002 is a pharmaceutically manufactured CBD. It is being developed as a clear gel that can be applied to the skin (called transdermal delivery). This provides consistent, controlled levels of CBD in the blood when it is given once or twice a day. The purpose of this study is to evaluate the long-term safety, tolerability and effectiveness of the experimental drug ZYN002. It will be used in the treatment of symptoms of Fragile X Syndrome (FXS). There are currently no FDA approved medications shown to treat FXS. ZYN002 is an experimental treatment. This means that it is not approved by the FDA and must be tested to see if it is an effective treatment.

Drug study, Phase [/2/,/ /3/]
Any, age 3 to 18 years old

A Study of the Experimental Medicine Edasalonexent in Boys With Duchenne Muscular Dystrophy

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This research study will test the effectiveness and safety of experimental edasalonexent. It will be studied in patients with Duchenne Muscular Dystrophy (DMD). An experimental drug is one that has not been approved by the FDA to treat this condition. A mutation (error) in the gene for dystrophin causes DMD. In DMD, dystrophin is not present in the muscle cells. Dystrophin is a protein that helps muscle cells keep their structure. Without dystrophin, muscle contractions damage the membrane around individual muscle cells. This results in cellular degeneration (decline) and inflammation (swelling). It also prevents cellular regeneration (new cells). Over time, the cycle will cause the muscle to be replaced with fibrotic tissue (scar tissue) and fat.

Drug study, Phase 3
Male, age 4 to 7 years old

A Study Of Experimental Cannabidiol in Children and Adolenscents With Fragile X Syndrome (CONNECT-FX Study)

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Fragile X Syndrome (FXS) is a genetic condition caused by a mutation in the Fragile X mental retardation 1 (FMR1) gene. This mutation is thought to cause changes the “endocannabinoid system” in the central nervous system. Disruption in this pathway can lead to FXS symptoms such as: - mild to severe intellectual or developmental disability, - speech and language difficulties, and - behavioral, social and emotional difficulties. Cannabidiol (CBD) is part of the Cannabis/Marijuana plant. It does not have the commonly known effects on the brain that recreational marijuana has. It may affect the endocannabinoid pathway. The Drug Product ZYN002 is a pharmaceutically manufactured CBD. It is being developed as a clear gel that can be applied to the skin (called transdermal delivery). This provides consistent, controlled levels of CBD in the blood when it is given once or twice a day. The purpose of this study is to test the safety and effectiveness of ZYN002 transdermal gel in patients with FXS. There are currently no FDA approved medications shown to treat FXS. ZYN002 is an experimental treatment. This means that it is not approved by the FDA and must be tested to see if it is an effective treatment.

Drug study, Phase [2, 3]
Any, age 3 to 17 years old

A Study of Oral vs Transdermal (through skin patch) Oxybutynin for Post-surgical Bladder Pain and Urgency in Children

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After bladder surgery, most patients have urinary urgency (the feeling of having to urinate). Doctors may give a medication to help treat or prevent this feeling. The medication Ditropan (oxybutynin) relaxes the bladder muscle and is currently given. This research study will test if oxybutynin works better in the oral form (liquid) or given through a skin patch (transdermal). Ultimately, we want to find the best form of the medicine for our patients to feel better after surgery.

Drug study, Phase 3
Any, age 4 to 8 years old

A Study of the FamilyLink Videoconferencing System and Breastfeeding

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This research study will determine whether viewing your baby while pumping changes the amount and/or content of your breastmilk. We also want to learn if viewing your baby changes your experience with pumping. You are invited to be in this study because you are a mother of a patient in our Neonatal Intensive Care Unit (NICU) who is currently pumping breastmilk. FamilyLink is a videoconferencing software used to view your baby remotely. Participation in this study will involve three sessions pumping breastmilk while using FamilyLink. Three sessions will be done without using FamilyLink. After each session you will complete a short survey and bring your pumped milk into the NICU. Which sessions you use FamilyLink for will be randomly assigned.

Behavioral study
Female, age -1 years or older

The LIFT Study: Telemedicine Breastfeeding Support

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This research study hopes to make sure that mothers have ongoing support to establish successful breastfeeding after leaving the hospital. It will test the effect of telemedicine breastfeeding support on breastfeeding duration. You are invited to be in this study because you delivered a late preterm infant and intend to breastfeed. If you decide to be in the study, you will be randomly assigned to a study group. One group will receive standard of care. The other group will receive 4 telemedicine breastfeeding support visits in addition to regular care. Here are some reasons you may not want to participate in this research: - completing surveys may take time, - you may not want to participate in telemedicine visits. This research will help understand the effectiveness of breastfeeding support practices. It will test a telemedicine lactation support intervention.

Behavioral study
Any, age -1 years or older

An Extension of Study SRP-5051 for Duchenne Muscular Dystrophy

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This research study is for participants who completed Study 5051-101. It offers these participants the opportunity to receive additional doses of experimental SRP-5051 (the study drug). Participants' blood and urine samples will be collected to determine if repeat monthly doses of the study drug are safe. We will use blood tests to determine how the body processes repeat doses of the study drug (pharmacokinetics). This research study will also collect information about upper limb, lower limb, and lung function. SRP-5051 is not approved by the U.S. Food and Drug Administration (FDA), or any other similar governmental agency abroad. This means that SRP-5051 is investigational (experimental) and can only be used in research studies like this one. DMD is caused by a mutation (a change) in the gene (the part of cells that give the body instructions on how to grow and work) that makes dystrophin (a protein). Dystrophin is important for protecting muscles from stress and damage during activity. If a person has DMD, his body is not able to make enough working dystrophin to protect his muscles. Some DMD participants are missing certain parts (exons) of the dystrophin gene. Their bodies can’t make full-length dystrophin protein. For these participants with deletion mutations, “skipping” over the missing area may allow the body to produce a shortened, but still working, form of the dystrophin protein. SRP-5051 is designed to skip exon 51. This study will test SRP-5051 in males with DMD who have deletions that may be treated by skipping exon 51.

Drug study, Phase [/1/,/ /2/]
Male, age 12 years or older

A Study of Experimental Apixaban for Venous Thromboembolism (deep vein blood clot) in Children

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This research study will test the safety and effectiveness of the experimental medicine apixaban. Experimental apizaban is a new anti-clotting drug. It will be used in the treatment of these blood clots in children. Children in this study may receive either standard treatment or apixaban. Children who receive standard treatment may receive drugs currently used by doctors to treat blood clots. These drugs include: - vitamin K antagonists (drugs that keep the body from making proteins used in making blood clots) - low molecular weight heparins and unfractionated heparin (which prevent the body from making blood clots) The use of apixaban in this study is experimental because apixaban is not currently approved by the FDA to treat blood clots in children. However, it is approved to treat blood clots in adults.

Drug study, Phase 4
Any, age Up to 17 years old

A Study of the Safety, Tolerability, and Pharmacokinetics (drug activity) of Experimental SRP-5051 For Duchenne Muscular Dystrophy

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The purpose of this study is to find the highest dose of SRP-5051 (study drug), that can be tolerated without causing very severe side effects. This is done by starting at a dose lower than the one that does not cause side effects in animals. This is the first time this has been tested in people. Participants are given the study drug and are watched very closely to see what side effects they have and to make sure the side effects are not severe. If the side effects are not severe, then new participants will be given a higher dose of SRP-5051. Participants joining this study later on will get higher doses of SRP-5051 than participants who join earlier. This will continue until a dose is found that causes severe side effects or the highest dose planned for this study is reached. Doses higher than that will not be given. SRP-5051 is not approved by the U.S. Food and Drug Administration (FDA). This means that SRP-5051 is investigational (experimental) and can only be used in research studies like this one. DMD is caused by a mutation (a change) in the gene (the part of cells that give instructions telling our bodies how to grow and work) that makes dystrophin (a protein). Dystrophin is important for protecting muscles from stress and damage during activity. If a person has DMD, his body is not able to make enough working dystrophin to protect his muscles. Some DMD participants are missing certain parts or “exons” of the dystrophin gene. Their bodies can’t make full-length dystrophin protein. For these participants with deletion mutations, “skipping” over the missing area may allow the body to produce a shortened, but still working, form of the dystrophin protein. SRP-5051 is designed to skip exon 51. This study will test SRP5051 in males with DMD who have deletions that may be treated by skipping exon 51.

Drug study, Phase 1
Male, age 12 years or older
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