UC Davis Health Clinical Studies

A Study of the Experimental Medicine ANAVEX2-73 For Rett Syndrome

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This research is being done to answer important questions that might help change or improve treatment for Rett Syndrome. Rett syndrome (RTT) is a rare genetic progressive neurodevelopmental disorder. It is mostly linked to mutations in the MECP2 gene. This affects multiple brain functions including communication, gait, and hand use. Because the MECP2 is gene is on the chromosome, few males live past birth. Therefore, most affected individuals with RTT are females. RTT becomes evident between 1.5-3 years of life. Signs are early developmental regression, expressive language and fine motor (hand) function difficulties . Other clinical manifestations are: - repetitive hand movements - impairment in ambulation - severe intellectual disability - breathing abnormalities while awake - seizures - sleep problems - behavioral problems such as anxiety, disruptive behavior, and mood abnormalities. The experimental drug being tested in this study is called ANAVEX®2-73. Since it is still being studied (experimental), it is not yet approved by the U.S. Food and Drug Administration (FDA), and doctors cannot prescribe it. We want to get more information about how ANAVEX®2-73 might: - improve cognition and sleep, - decrease anxiety and other behaviors, - improve motor function and seizures, if applicable in people with RTT.

Drug study, Phase 2
Female, age 18 to 45 years old

The HOPE-B Trial of Experimental AMT-061 For Severe or Moderately Severe Hemophilia B

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The purpose of this study is to test the safety and effectiveness of a single infusion of the experimental study drug AMT-061. It will be given to adults with severe or moderately severe hemophilia B. AMT-061 is a gene therapy product. Genes contain the blueprint for the body to produce proteins. A damaged or mutated gene can cause the body to produce insufficient levels of a certain protein or stop producing a certain protein at all. In people suffering from hemophilia B, the gene containing the blue print for clotting factor IX, is damaged or mutated. AMT-061 gene therapy targets the liver cells, where factor IX is normally produced. Once AMT061 reaches the liver cells, the capsid (“Package”) releases the gene cassette (“instruction manual”). The capsid is then broken down and disappears. The gene cassette is expected to remain in the liver cells permanently (independent from your own genetic material). The intended result is stable factor IX production in the liver for a long period of time.

Genetic study, Phase 3
Male, age 18 years or older

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 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 Experimental Human Factor 8 Gene Therapy SB-525 For Severe Hemophilia A

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We invite you to take part in a research study because you have severe hemophilia A and you are a male, 18 years of age or older. Researchers want to find out more about an experimental drug called SB-525. An experimental drug is still being tested and is not approved for sale in the United States by the FDA. SB-525 belongs to a new class of treatment called gene therapy. The main purpose of this study is to see if receiving SB-525 is safe and tolerable. Also, the potential effect of SB-525 for improving blood clotting will be evaluated. SB-525 consists of substances called vectors (also referred to as carriers). Vectors carry a modified version of the gene for making Factor Eight clotting protein (FVIII). The drug is designed by Sangamo. Scientists think that SB-525 might help your body produce more FVIII. The vector used in this study is a recombinant adeno-associated virus (AAV) that has been modified. These are viruses can infect humans but do not cause any known disease. These viruses are commonly-used vectors for gene transfer and have been changed in the laboratory. They can no longer grow or reproduce in the human body because most of their DNA has been removed and replaced with a gene coding for factor eight. After a single infusion of SB-525 into a vein in your arm, the vector can go to the liver to introduce the gene for factor eight. The study team wants to find out if, after SB-525 infusion, your liver cells will produce FVIII protein and release it into your blood circulation.

Biological study, Phase [/1/,/ /2/]
Male, age 18 years or older

Comparison of 3 Modes of Genetic Counseling in High-Risk Public Hospital Patients

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The investigators will conduct a study in many locations with high-risk English-, Spanish-, and Cantonese-speaking patients. Patients will be assigned to three counseling modes: (a) in-person; (b) phone; or (c) video conference. All counseling sessions will be audio-taped. A sample of 90 tapes will be analyzed for counseling content and to identify 30 participants for in-depth interviews. Genetic counselors will be interviewed in depth for their perceptions of the strengths and limitations of each counseling mode.

Behavioral study
Any, age 18 to 70 years old

A Study of Experimental Medicine Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy

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Your child is being asked to take part in a 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 maintaining structure of muscle cells. One type of mutation in the dystrophin gene is called a 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’s protein production machinery 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 muscles. Your child is being offered an opportunity to take part in this research study because he has DMD caused by a nonsense mutation in the dystrophin gene and has recently completed the PTC124-GD-020-DMD study. This study is an extension of the PTC124-GD-020-DMD study. The main goal of this study is to better understand whether experimental medicine ataluren can be safely given for a long period of time. The study will also provide additional information as to whether the actions of ataluren can result in improved walking, activity, muscle function, muscle fragility, upper limb function, pulmonary function, health-related quality of life (via PODCI) in boys with DMD. This research study will test an investigational drug called ‘ataluren’. The regulatory authorities have permitted use of ataluren in this study as part of a process to find out if it could one day be made more widely available for doctors to prescribe it for patients with DMD.

Drug study, Phase 3
Male, age 7 to 16 years old
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