The research studies listed are for our reader's information. We do not endorse or promote one study over another. We are simply passing the information onto our readers who may be interested in participation. We will not be held liable for any of the studies listed. This is NOT a comprehensive list, if you are aware of a research study and are interested in having it posted please email the information to jbrown@medicine.nodak.edu
| Velocardiofacial Syndrome (VCFS) Research Study |
Small deletion syndromes are caused by the loss of a stretch of genes from one of the two chromosomes they are located on during germ cell development. They offer a unique opportunity to study how relatively pronounced changes in the effects of relatively few genes lead to disturbances in brain function.
The most common such condition, Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems. It is caused by the absence of a number of genes on chromosome 22.
We are recruiting participants with 22q11.2 syndrome to come to our main campus in Bethesda, MD, to participate in a study in which we will investigate the genetic makeup of their cells together with several studies of brain function with advanced research imaging. The goal of this study is to understand how the genes missing in 22q11.2 syndrome are related to the increased occurrence of psychiatric problems, such as psychosis. Participants must be 18-50 years of age, have some high school education and not currently be taking antipsychotic medication. Travel costs to Bethesda for participants and an accompanying person will be paid, and participants are reimbursed for their time in participating in the study. A blood draw is required. All research procedures have been designated as "minimal risk" procedures.
To find out if you qualify or for more information, please call (301) 496-5645 or email at nimhcore@mail.nih.gov .
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| Attention Deficit Hyperactivity Disorder Research Study |
Brain Imaging of Twins with Attention-Deficit/Hyperactivity Disorder |
The purpose of this study is to use brain imaging technology to study the connections between brain regions in a twin with Attention-Deficit/Hyperactivity Disorder (ADHD) compared to their twin without ADHD. Participants in this study must be under the age of 21 years. They will be screened with questionnaires and interviews, psychometric testing, and a physical examination. Participants' medical and educational records may be reviewed. Participants will undergo an MRI scan of the brain.
To find out if you qualify or for more information, please call (301) 496-5645 or email us at nimhcore@mail.nih.gov .
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PRADER WILLI SYNDROME
- A research study opportunity looking at the experiences of patients with obvious physical differences, when participating as a teaching case in the genetics clinic. For more information please click here.
- A research study looking for persons with Prader-Willi syndrome aged 4 years through adulthood, and their families to come participate at the Kennedy Center at Vanderbilt University in Nashville, TN. Study activities include a day of behavioral and neurochemistry assessments. All participants will receive a written report of study findings by the research team. For further information call Elizabeth Roof, Research Coordinator at 615-343-3330. For web link, click here.
- Octreotide Intervention in Children with PWS
Dr. Andrea Haqq of Duke University is enrolling interested families of children with PWS in a new study. This study will investigate the effect of Octreotide therapy over a period of 6 months on food intake, sense of hunger, and body weight in children with Prader-Willi Syndrome (PWS). Eligible children must be between the ages of 5-17 and must have a BMI (body mass index ) over the 85th percentile for their age. Compensation will be provided for participation in this study.
If you would like to hear more about this study, please contact
Juanita J. Cuffee at
Duke University Medical Center,
(919) 660-6719 or email juanita.cuffee@duke.edu
- Learning Profiles of Children with Prader-Willi Syndrome
Researchers at the Clinical Center for Development and Learning (CDL) at the University of North Carolina at Chapel Hill are conducting a study on learning profiles of children with Prader-Willi Syndrome (PWS). The results of this study will be used to develop a tool for developing learning plans specific for children with PWS.
We are seeking 100 families of children ages 3-17 with PWS to participate in a questionnaire study. This study will involve parents and teachers completing a questionnaire designed to explore the educational and cognitive strengths and needs of children with PWS. Parents will also be asked to complete three additional short questionnaires about their child's behavior and food preferences. Participation in this portion of the study is optional and will take approximately 30 minutes for teachers and 1 hour for parents. Parents will receive a letter outlining their child's strengths and needs, with recommendations based on their child's profile.
In addition, we are seeking 50 families to complete the above study; in addition their child would participate in an assessment of neuropsychological and educational abilities. The assessment at the CDL will take approximately 3 hours. Families will receive a thank you gift and a full report of their child's neuropsychological and educational strengths and needs, with recommendations based on their child's profile.
Participation is completely voluntary and you may choose not to participate in any portion of the study or withdraw from the study at any time.
For more information contact Dr. Anne Wheeler at 919-843-7049 or 919-966-5171 or at anne.wheeler@cdl.unc.edu .
- NIH funded MRI Study
An NIH funded study needs PWS research subjects, aged 7-25. The goal of the study is to gain a better understanding of brain areas involved in the control of breathing as well as a better understanding of the defects in respiratory control in the brain causing the Congenital Central Hypoventilation Syndrome (a condition in which patients cannot breathe during sleep) and Prader-Willi Syndrome (a condition in which patients do not adequately respond to breathing carbon dioxide or oxygen).The overall objective of the study is to localize, using structural and functional magnetic resonance imaging (fMRI), regions in the brain that modify breathing and cardiovascular activity in a) normal control children; b) children with Congenital Central Hypoventilation Syndrome (CCHS) who show deficits in central chemoreception and breathing drive during sleep; and c)children with Prader-Willi Syndrome (PWS) who show deficits in peripheral chemoreception and sleep-disordered breathing.The study involves having the child lie in an MRI scanner while structural scans are taken and while functional scans (paced breathing, foot movement and a cold pressor test) are taken.Compensation for travel and expenses is available.
Principal Study Investigator: Ronald M. Harper, Ph.D., of the Brain ResearchInstitute at the University of California, Los Angeles.For more information, contact the Study Coordinator: Becky Harper (310) 206-1679.
AUTISM SPECTRUM
- Following is a survey link from the Autism Society of America . They are looking for information about how crime affects autistic individuals and/or their parents. The focus is on better training for police and other emergency workers on the nature of autism spectrum disorders. Here's the link: http://www.surveymonkey.com/s.asp?u=581552000509
NEUROFIBROMATOSIS
CHROMOSOME DISORDERS
- Research study is recruiting individuals with X and Y Chromosome variations. For additional information please contact Dr. Nicole Tartaglia at (916) 703-0286 or email her at nicole.tartaglia@ucdmc.ucdavis.edu. For a word document, please click here.
KIDNEY
SMITH-LEMLI-OPITZ SYNDROME
- This study will evaluate the safety and effectiveness of simvastatin in treating children with Smith-Lemli-Opitz syndrome (SLOS). Patients with this inherited disease are deficient in an enzyme that converts a substance called 7-dehydrocholesterol (7-DHC) to cholesterol. Cholesterol synthesis is impaired, causing birth defects and mental retardation. This study will examine whether simvastatin can increase the amount of the deficient enzyme, thereby lowering 7-DHC and increasing cholesterol. It will examine the safety of simvastatin in affected children and its effects on their behavioral problems. Children between 4 and 18 years of age with mild to typical SLOS may be eligible for this study. http://clinicaltrial.gov/ct/show/NCT00064792?order=81
FABRY DISEASE
- The purpose of this study is to compile a registry of patients with Fabry disease, an inherited metabolic disorder. The Fabry disease registry is a voluntary and anonymous list of patients that includes information about their health and allows doctors to follow changes in their symptoms and test results over time. It also allows doctors to compare symptoms between patients who are receiving certain therapies with those who are not receiving therapy.
VARIOUS DISORDERS & SYNDROMES
- Genetic Alliance is asking for people who have had genetic testing to contact their office to complete a survey. Their address and phone number is:
Genetic Alliance 4301 Connecticut Avenue, NW Suite 404 Washington, DC 20008 Phone: 202.966.5557 x201Fax: 202.966.8553 Email:
Nicole Exe at nexe@geneticalliance.org Click HERE for a Word document of the Survey Questions. Thank you for taking your time to respond to their questions.
- ClinicalTrials.gov provides regularly updated information about federally and privately supported clinical research in human volunteers. ClinicalTrials.gov gives you information about a trial's purpose, who may participate, locations, and phone numbers for more details. Research includes Huntington Disease, ADHD, Asthma, etc. Click here for additional information.
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