The UCSD Pediatric Neurology Research Group Research Update & Studies

Updated August 28, 2004

Early Intervention Trial For Visual Processing Deficit In Cystinosis
Doris A. Trauner M.D. Principal Investigator
Six-Month Progress Report

Hypothesis: Children with cystinosis will improve their visual processing skills by repeated, graded presentations of visual stimuli

Specific Aims: To determine whether a unique program of computerized visual stimuli, presented in slowly increasing speed of presentation and complexity, will improve visual processing in children with cystinosis.

Progress to date: The intervention program has been toe focus of attention for the past 6 months. We have worked on developing and refining a program that would be suitable for the age range 4-9 years, would tap various aspects of visual processing skills, and would be interesting enough for children and parents to continue for 6 weeks. This program is essentially complete, and detailed instruction manuals are being written to accompany the program. A laptop computer has been purchased on which to house this program for use by the children.

While the intervention paradigm was being worked out, baseline cognitive testing was begun. Approximately 15 children with cystinosis between the ages of 4 and 9 years, and 10 healthy controls, have received the baseline cognitive testing in preparation for the intervention trial. We will be contacting every family soon to determine whether they wish to continue in the intervention trial, and if so, will begin the second phase of the study.

The only delays in this project were in designing the most appropriate tasks to use in the intervention portion of the study. This has now been worked out and we are on track to continue the study.

Future Plans: We anticipate that we will begin the actual intervention portion of the study within the next month or so. We should have preliminary data to analyze by January 2005.

Doris A. Trauner M.D.

The UCSD Pediatric Neurology Research Group, under the direction of Dr. Doris Trauner , MD is currently looking for subjects willing to participate in two research studies. 

1. Cystinosis Myopathy Study:

This study is examining potential metabolic causes for the muscle weakness associated with cystinosis. This muscle weakness is known as myopathy. Our goal for the study is to determine whether specific treatment will improve strength and prevent worsening of the myopathy. This study consists of a maximum of 4 study related visits to San Diego. The first visit consists of a neurological exam, EMG (a test of electrical activity of the muscles), exercise testing (treadmill test, grip strength), and a muscle biopsy. After this baseline data is collected, half of the participants will be treated with a mixture of vitamins and cofactors hypothesized to improve strength and prevent worsening of myopathy, and half will be treated with a placebo for 3 months. Repeat neurological and EMG testing will be conducted at 3 months to determine whether there has been improvement in strength and decrease in myopathy. If the treatment is effective, all participants will be offered the same treatment. If the treatment is effective, participants will be re-tested at the end of 6 months and 1 year with neurological examinations and muscle strength testing.

The most important component of our research occurs on the first visit. We will pay for your airfare and hotel to San Diego for this visit. We are asking people to consider coming out to San Diego at least once. 

2. Cognitive and Brain Development in Children & Adolescents with Cystinosis:

We are also conducting a study on learning and cognitive skills in children with cystinosis. We are currently looking for children with cystinosis between the ages of 3 and 7 years old and 12 and 17 years old who would be willing to participate in cognitive testing, a neurological exam, and an MRI at our lab in San Diego . The cognitive testing is non-invasive and behaviorally-oriented, and it helps us learn more about the cognitive and behavioral effects of cystinosis. Individuals will be asked to perform such tasks as putting together puzzles, defining words, and identifying or remembering pictures. The neurological examination is conducted by Dr. Doris Trauner , a pediatric neurologist, or one of her associates. It is a non-invasive exam that helps us learn more about an individual in terms of coordination, reflexes, sensory skills, language, and other neurologic functions. Individuals may be asked to do such tasks as kick a ball, stack blocks, and repeat sounds. The MRI is a non-invasive procedure that enables us to learn more about the structure of the brain.

The cognitive testing will take approximately two, 1-1/2 hour sessions, the neurological exam takes approximately 20 minutes, and the MRI takes approximately 45 minutes. Participation is completely voluntary. Participants will receive $10 after completing each cognitive testing session and $25 for completing the MRI scan. The testing is usually a lot of fun and children enjoy participating.

If you would like to participate in any of our research studies, or would like more information, please contact us using the information below, and we will make arrangements for your visit to San Diego . We greatly appreciate the time and effort that families have devoted to increasing our knowledge about the effects of cystinosis.

The UCSD Pediatric Neurology Research Group, 858-587-4020

Email: aschatz@crl.ucsd.edu (Amy Schatz, Ph.D.), babchuck@crl.ucsd.edu (Lynne Babchuck)

Research Update: Cognitive and Brain Development in Children & Adolescents with Cystinosis

We have made a great deal of progress in our study on cognitive and brain development in children and adolescents with cystinosis. Twenty-six children (20 with cystinosis and 6 controls) between 3 and 7 years of age have been inducted into the study to date, with several more scheduled. Of those, 18 children with cystinosis and 6 controls have completed cognitive testing. Sixteen MRI studies have been completed, 12 on cystinosis participants and 4 on controls. Imaging results are in the early analysis phase. Clinical readings by our neuroradiologist have identified 5 cystinosis children who had mild to moderate cortical volume loss and moderate to severe central volume loss, suggesting preferential diminution of white matter in the brains of these young children.

Preliminary results of cognitive testing: Since we have only 6 controls completed to date, data analysis for the cognitive measures is very preliminary. However, some interesting patterns have already begun to appear. Briefly, children with cystinosis appear to have a discrepancy between perceptual and spatial performance, scoring significantly more poorly than controls on tasks of spatial function, and more comparable to controls on tests of visual perception. As we continue to test additional children, we will re-analyze our data to determine whether this pattern continues to hold.

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