Participation

The Cystinosis Research Network is compiling a listing of individuals who are interested in participating in cystinosis research studies. If you are interested, please submit the form below. 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.

Studies currently recruiting volunteers

Perturbations in the V-ATPase Pathway Drive Pathology in the Male Reproductive System in Cystinosis

Funded by Cystinosis Ireland and the Cystinosis Research Network, Drs Minnie Sarwal, James Smith and Polina Lishko are investigating the causes of infertility in men living with nephropathic cystinosis being treated with cysteamine. One of the study goals is to design therapies to prevent the loss of male reproductive functions. If you/a male 18+ years old are interested in participating, contact minnie.sarwal@ucsf.edu or Study Coordinator, Jim Cimino at 415-514-0192 or email to jim.cimino@ucsf.edu. The informational flyer can be found here.

Measuring the Health-Related Quality of Life (HrQoL) of Children and Adolescents with Cystinosis

In partnership with the Department of Medical Psychology at Germany’s University Medical Center in Hamburg-Eppendorf, Dr. Julia Quitmann and team are actively recruiting participants for online interviews. The study focuses on health-related quality of life (HrQoL) and aims to learn more about the challenges and management of the disease and the needs of patients living with cystinosis.

Both cystinosis patients and parents may be eligible. Additional information is available here or contact Isabell Suck or Stefanie Witt at quality-of-life@uke.de.

The Effect of Exercise on Muscle Dysfunction in Cystinosis

Clinical researchers from the Stanford Neuromuscular department are looking for individuals who have been diagnosed with Cystinosis Myopathy, to participate in a high-intensity interval training (HIIT) exercise study. Further information about this study is listed on the clinicaltrials.gov website here.

There is no cost to participate in the study, and as part of your participation you will receive an exercise bike delivered to your home, free of charge, to keep after study cessation. We are looking for participants who currently reside in the USA. Unfortunately, we cannot accept participants living outside the USA due to limitations in shipping.

If this is something you may be interested in, please email cfrater@stanford.edu for further details.

How the Brain Works in Cystinosis

The team at Montefiore Medical Center/Einstein College of Medicine in the Bronx, NY is researching disease impact on the brain. Ana Alves Francisco and team are conducting a three-day study to include EG and cognitive testing. If you or your child are living with cystinosis and are interested in study qualifications, please email ana.alvesfrancisco@einsteinmed.org. Those chosen to participate will have travel and accommodation expenses covered. Open to U.S. residents only.

Sleep, Memory and Thinking in Adults with Cystinosis

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.

For more information, please contact Jennifer Crowhurst at jcrowhurst@ucsd.edu or Tammy Vu at 858-822-6700.

Muscle Strength in Cystinosis

Dr. Larry Greenbaum from Emory University is conducting 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
e-mail: lgreen6@emory.edu
Phone: 404-727-6994

Brain Processing and Integration of Sensory Information in Cystinosis

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.

Data will be collected at the 2017 CRN Family Conference at Snowbird Resort July 13th – July 15th, 2017. Those qualifying for the study will be compensated $15/hour. To learn more, contact Ana Alves Francisco at (718) 862-1824 orana.alvesfrancisco@einstein.yu.edu and check out their flyer.

CTNS Nonsense Mutation Screening

The McGill University Montreal Children’s Hospital invites cystinosis patients to join a 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.

Please contact us by phone: (514) 412-4400 ext. 22953 or by email: Murielle.akpa@muhc.mcgill.ca

Principal Investigator:
Paul Goodyer, M.D.
Professor of Pediatrics at McGill University
Department of Pediatric Nephrology, Montreal Children’s Hospital
Study Coordinator:
Murielle M. Akpa, PhD