The Cystinosis Research Network is compiling a listing of individuals who are interested in participating in cystinosis research studies. If you are interested in having your name added to this list, you will be asked for some basic contact information and you will give CRN permission to release this information directly to researchers who are looking for individuals with cystinosis and/or their family members to participate in research studies. The researchers may then contact you directly in the future with various research opportunities.
Submitting this information in no way indicates your commitment to participate in any clinical trial. Rather, it simply gives your permission for researchers to contact you directly. By forwarding this information, you give CRN permission to release it to researchers and their staff. You may have your name removed from this list at any time by contacting Christy Greeley at the address below.
This information can be mailed or emailed to:
Vice President, Research
302 Whytegate Court
Lake Forest, IL 60045 USA
Dr. Doris Trauner and her research group at the UCSD School of Medicine are conducting a research study to evaluate the relationship between sleep, memory and thinking in adults with cystinosis. We are looking for adults with cystinosis to participate in an overnight sleep study and cognitive testing focusing on memory.
Participation involves completing questionnaires, performing tests of memory and thinking, and sleeping overnight in a UCSD sleep laboratory. The questionnaires and memory and thinking assessments will take about 5-6 hours to complete. The sleep study portion will require an overnight stay in a sleep lab with the placement of electrodes for recording bodily functions such as heart rate and muscle movements, but will be completely non-invasive and non-painful. The study will pay for travel and meals, and participants will receive the results of both their memory and thinking tests and sleep assessments. If any problem is found in the sleep study, we will send the results to your primary care physician.
Dr. Larry Greenbaum from Emory University will be initiating a study of muscle strength in patients with Cystinosis. Loss of muscle strength is a common complication in adults with Cystinosis. This study will measure grip strength (squeezing a grip for 5 seconds) in patients who are at least 6 years old. The goals of the study are to determine risk factors for decreased grip strength and to determine the severity of the problem in patients with Cystinosis. Describing the problem will hopefully lead to studies of interventions to slow or reverse the loss of muscle strength. Grip strength may be a good way to monitor therapies. Dr. Greenbaum previously published a study in Journal of Pediatrics showing that decreased grip strength is common in pediatric kidney transplant recipients. Study participation will be available to patients at the CRN conference in Utah (July 13 - July 15) and to the large number of patients with Cystinosis who are followed at Emory University. Study participation will take about 5-10 minutes.
Larry Greenbaum, MD, PhD
Marcus Professor of Pediatrics
Division of Pediatric Nephrology
Emory University School of Medicine and Children’s Healthcare of Atlanta
New Cystinosis Study from McGill University Montreal Children’s Hospital (CTNS Nonsense Mutation Screen - CyNoMuS)
The purpose of this message is to invite cystinosis patients to join our upcoming study concerning a specific type of genetic alteration called a “Nonsense Mutation”. Although cystinosis is caused by many different disruptions of the CTNS gene, we are particularly interested in “nonsense mutations” which trick the cell into stopping production of Cystinosin protein. Several pharmaceutical companies are working hard to develop medications related to a well-known antibiotic (gentamicin) that permits the cell to disregard nonsense mutations.
Nonsense Mutations are estimated to account for about 10-15% of cases in other genetic diseases, but the prevalence in cystinosis is unknown and there is some evidence that CTNS Nonsense Mutations are clustered in certain regions. Looking forward, cystinosis patients may wish to know whether or not they carry a nonsense mutation. We would like to survey the cystinosis community and characterize the prevalence and distribution of Nonsense Mutations among cystinosis patients in North America and Europe. This would simply involve (prepaid) mailing a sample of saliva to our research group at McGill University Children’s Hospital in Montreal. We would analyze the sequence of your CTNS gene and let you know for future reference whether or not you carry a nonsense mutation.
Paul Goodyer, M.D.
Professor of Pediatrics at McGill University
Department of Pediatric Nephrology, Montreal Children’s Hospital
Murielle M. Akpa, PhD
Albert Einstein College of Medicine Searching for Participants for Children with Cystinosis for Study on How the Brain Processes and Integrates Sensory Information
The team from the Cognitive Neurophysiology Lab invite children with Cystinosis to take part in a study using EEG to observe the reaction of the child’s brain while he/she listens to sounds and views images.
NIH Muscle Wasting in Adults with Cystinosis Study Looking for Participants
Cystinosis Research Network Cystinosis Fellow Dr. Galina Nesterova and coordinator Joy Bryant are starting enrollment in a new research study at the National Institutes of Health. The study will look at whether growth hormone (Humatrope, recombinant human Growth Hormone) may help prevent the loss of muscle that can sometimes occur in people with cystinosis. People with cystinosis are eligible to participate if they age 18 or over, are having muscle problems related to cystinosis, are compliant with their cysteamine therapy, and do not have cancer, high blood pressure, uncontrolled diabetes or significantly impaired kidney function.
The study would last for 2 years and involve 10-12 visits to the NIH. Patients would be assigned to a group that either receives daily growth hormone injections or no treatment for the first year, then would switch to the opposite treatment the second year, so that each participant would receive growth hormone for one year. Several tests will be included such as blood and urine, MRI and DEXA scans and other physician evaluations, all of which will be at no cost to the participant.
Subjects needed for Outcome and Quality of Life in Adults Study
About the Study: Angela Ballantyne, Ph.D. and Doris Trauner, M.D., of the UCSD School of Medicine, are conducting a questionnaire-based research study to learn more about outcome and health-related quality of life in adults with the genetic-metabolic disorder, cystinosis. This study is funded by the Cystinosis Research Foundation (CRF). The purpose of this study is to gather vital information on outcome and quality of life in the ever-expanding population of adults living with cystinosis. The information obtained from this study can also be used to weigh the risks versus benefits of new therapies or treatments for cystinosis.
What the Study Involves: This is an online, questionnaire-based study that examines quality of life and outcome in adults with cystinosis. Participants will be asked to log in to a secure, online assessment center and complete a series of questionnaires that will take approximately 1 to 2 ½ hours. Questions will be asked regarding demographic background, health, medical issues, quality of life, and outcome in cystinosis. Participation in the study is strictly confidential. Data from all participants will be combined, and you will not be identified by name in any publication or teaching activities.
Who may participate? Two groups of participants are being recruited to take part in this online study. You are eligible to participate if:
(a) you are an adult over 18 years of age living with cystinosis
(b) you are a parent or nearest living relative of an adult who had cystinosis and passed away within the past 10 years.
Click to download this pdf, Outcome and Quality of Life in Adults with Cystinosis
The Pediatric Neurology Research Group at UCSD is conducting a research study about Outcome and Quality of Life in Adults with Cystinosis. For more information and to participate, please see the flyer
Cystinosis in Emerging Adulthood Study
Research Study Participants Needed Individual interviews with Young adults (18-30) with cystinosis* AND Mothers and Fathers of young adults (18-30) with cystinosis*
The purpose of this research is to understand the experience of growing up with and living with cystinosis as a young adult. While a round of focus groups has already taken place with young adults and parents, you can still register to participate in individual interviews this Winter and Spring. Individual interviews conducted by researcher will take place in participant’s home or a location convenient to your home. Interviews will last 60-90 minutes. Parents may participate in individual interviews only if their youngadult child does too.
This study has received IRB approval from New York University's University Committee on Activities Involving Human Subjects, HS# 11-8415, as of June 17, 2011.
Please visit https://www.surveymonkey.com/s/yacys for more information and to register or to participate.You may also contact researcher by phone or email to discuss this study.Researcher will contact you by phone to discuss your eligibility for the study.
Researcher contact information: Maya Doyle, LCSW, ABD Silver School of Social Work
New York University
1 Washington Square North
NewYork, NY 10003
Dr. Elenberg Quality of Life Study Needs Particpants
I am conducting a Quality of Life study, funded bythe Cystinosis Research Network and I would like to encourage you to participate. The study involves less then 10 minutes of your time and can be conducted overthe phone. I will need to talk tothe patient and one of his/her parents (if child is less than 18 years old).
In order to respect your private time, I would prefer if you let me know when it is the most optimal time for me to call you. I also need to know in advance the age of your child (can be adults with Cystinosis as well) and if she/he is on dialysis or has been transplanted (there are different surveys for each).
If you live outside of the USA and are interestedin participating, please send me an e-mail and I will send you the survey via mail.
H1N1 and Flu vaccinations in the Cystinosis community
Study on Stress and Coping in Cystinosis
Study to learn more about how to prepare blood samples for Cystine Levels
Cystinosis Tissue Registry
Cognitive Research Studies