NCT00758108

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

Completed Last updated 12 December 2019

What this trial tests

trial in WAGR Syndrome in 197 participants. Completed in 29 April 2015.

Timeline

11 September 2008

29 April 2015

Quick facts

Lead sponsor	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	197
Start date	11 September 2008
Estimated completion	29 April 2015
Sites	1 location across United States

Conditions studied

• WAGR Syndrome — all drugs for WAGR Syndrome →
• Wilm's Tumor — all drugs for Wilm's Tumor →
• Aniridia — all drugs for Aniridia →
• Urogenital Abnormalities — all drugs for Urogenital Abnormalities →

Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Who can join

Adults 2 to 99, any sex, with WAGR Syndrome or Wilm's Tumor. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of the eye), genital and urinary abnormalities, mental retardation, and possibly other symptoms. This study will examine how the genes on chromosome 11 affect people and whether the absence of specific genes is associated with specific symptoms.

Healthy normal volunteers, people with isolated aniridia, and people with WAGR or another chromosome 11 gene deletion may be eligible for this study. Participants must be at least 6 years old. Parents of patients may also participate for genetic studies.

Participants undergo some or all of the following procedures, depending on whether they are a child, adult, healthy volunteer or parent of a patient:

* Medical history and physical examination, eye examination, blood, urine and saliva tests, electrocardiogram (EKG) and electroencephalogram (EEG)
* X-rays, scans and other tests to measure body composition (fat, muscle and bone development and thickness) and MRI to examine the eyes and the brain and to measure abdominal fat
* Ultrasound studies of the kidneys, ovaries and uterus (in females) and testes (in males)
* Meal tests, food diaries and food preference tests
* Questionnaires about eating and sleep habits, personality and character traits and responses to pain and injury
* Neuropsychological tests
* Tests of resting metabolic rate, energy expenditure and glucose (sugar) tolerance
* Hot and cold sensitivity tests, vibration sensitivity test, cold tolerance test and smell identification test
* Eye and hearing tests
* Nerve conduction studies and study of sensory information conduction from peripheral nerves to the spinal cord and brain
* Computer photography
* Evaluation by sub-specialists (e.g., endocrinologist, ophthalmologist, physiatrist, neurologist or others) as indicated by the patient s medical history and test results

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders.
   Seidlitz J, Nadig A, Liu S, Bethlehem RAI, et al · · 2020 · cited 242× · PMID 32620757 · DOI 10.1038/s41467-020-17051-5
2. PROMIS Sleep Disturbance and Sleep-Related Impairment in Adolescents: Examining Psychometrics Using Self-Report and Actigraphy.
   Hanish AE, Lin-Dyken DC, Han JC. · · 2017 · cited 89× · PMID 28448375 · DOI 10.1097/nnr.0000000000000217
3. Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
   Han JC, Thurm A, Golden Williams C, Joseph LA, et al · · 2013 · cited 50× · PMID 23517654 · DOI 10.1016/j.cortex.2013.02.009
4. In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene.
   Peter CJ, Saito A, Hasegawa Y, Tanaka Y, et al · · 2019 · cited 47× · PMID 31511512 · DOI 10.1038/s41467-019-12013-y
5. Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
   Han JC, Reyes-Capo DP, Liu CY, Reynolds JC, et al · · 2018 · cited 43× · PMID 29718281 · DOI 10.1210/jc.2018-00496
6. Hyperphagia among patients with Bardet-Biedl syndrome.
   Sherafat-Kazemzadeh R, Ivey L, Kahn SR, Sapp JC, et al · · 2013 · cited 43× · PMID 23776152 · DOI 10.1111/j.2047-6310.2013.00182.x
7. Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency.
   Hanish AE, Butman JA, Thomas F, Yao J, et al · · 2016 · cited 24× · PMID 26439359 · DOI 10.1111/jsr.12345
8. Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.
   Hanish AE, Han JC. · · 2018 · cited 9× · PMID 29343077 · DOI 10.1177/1099800417753670