Last update 21 Mar 2024

WAGR Syndrome

Last update 21 Mar 2024

Basic Info

Synonyms

11p Partial Monosomy Syndrome, 11p partial monosomy syndrome, 11p partial monosomy syndrome (diagnosis)

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Introduction

A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.

Clinical Trials associated with WAGR Syndrome

NCT03413371 / Unknown statusNot ApplicableIIT

Influence of SPI-guided Analgesia With Preventive Different Peribulbar Blocks (PBB) on the Presence of OCR, Postoperative Pain, PONV in Patients Undergoing VRS Under General Anaesthesia: a Randomised, Controlled Trial

The aim of this randomized trial is to assess the efficacy of preventive analgesia using different peribulbar blocks (PBB) under SPI-guided anaesthesia for vitreoretinal surgery (VRS), presence of PONV (postoperative nausea and vomiting) and oculocardiac reflex (OCR) and compare Numerical Rating Scale (NRS) with Surgical Pleth Index (SPI) for monitoring pain perception postoperatively.
Patients will receive general anaesthesia combined with either preventive PBB using either lidocaine with bupivacaine or bupivacaine or ropivacaine

Start Date26 Apr 2018

Sponsor / Collaborator

Medical University of Silesia

[+1]

NCT01793168 / RecruitingNot Applicable

Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Start Date01 Jul 2010

Sponsor / Collaborator

Sanford Health Corp.

[+11]

NCT00758108 / CompletedNot ApplicableIIT

WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype

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

Start Date11 Sep 2008

Sponsor / Collaborator

Eunice Kennedy Shriver National Institute Of Child Health And Human Development

100 Clinical Results associated with WAGR Syndrome

100 Translational Medicine associated with WAGR Syndrome

0 Patents (Medical) associated with WAGR Syndrome

275

Literatures (Medical) associated with WAGR Syndrome

16 Feb 2024·Acta paediatrica (Oslo, Norway : 1992)

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.

Article

Author: Sebastião Cronemberger ; Anna L B Albuquerque ; Ana Cristina Simões E Silva ; Jovita Lane Soares Santos Zanini ; Alexandre Higino Gonçalves da Silva ; Luciana F Barbosa ; Francine da Cunha Rubião ; Felipe L de Lima ; Rossana Fonseca Casimiro ; Márcio Placedino Martins ; Alberto Diniz-Filho ; Luciana Bastos-Rodrigues ; Eitan Friedman ; Luiz De Marco

AIM:

This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome).

METHODS:

Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing.

RESULTS:

Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software.

CONCLUSION:

WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.

07 Feb 2024·Pediatric nephrology (Berlin, Germany)

WT1-related disorders: more than Denys-Drash syndrome.

Article

Author: Mercedes Lopez-Gonzalez ; Gema Ariceta

Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Denys-Drash syndrome (DDS), Frasier syndrome (FS), Meacham syndrome, and WAGR syndrome. DDS is classically defined by the triad of steroid-resistant nephrotic syndrome (SRNS) onset in the first year of life, disorders of sex development (DSD), and a predisposition to Wilms tumor (WT). Currently, a paradigm shift acknowledges a diverse spectrum of presentations beyond traditional syndromic definitions. Consequently, the concept of WT1-related disorders becomes more precise. A genotype-phenotype correlation has been established, emphasizing that the location and type of WT1 mutations significantly influence the clinical presentation, the condition severity, and the chronology of patient manifestations. Individuals presenting with persistent proteinuria, with or without nephrotic syndrome, and varying degrees of kidney dysfunction accompanied by genital malformations should prompt suspicion of WT1 mutations. Recent genetic advances enable a more accurate estimation of malignancy risk in these patients, facilitating a conservative nephron-sparing surgery (NSS) approach in select cases, with a focus on preserving residual kidney function and delaying nephrectomies. Other key management strategies include kidney transplantation and addressing DSD and gonadoblastoma. In summary, recent genetic insights underscore the imperative to implement individualized, integrated, and multidisciplinary management strategies for WT1-related disorders. This approach is pivotal in optimizing patient outcomes and addressing the complexities associated with these diverse clinical manifestations.

20 Jan 2024·Journal of the neurological sciences

Fast but not furious: Rapid ocrelizumab infusion as a strategy to optimize multiple sclerosis patients' management.

Article

Author: Chiara Zanetta ; Patricia Faustino ; Simone Guerrieri ; Agostino Nozzolillo ; Angela Genchi ; Chiara Bucca ; Maria A Rocca ; Lucia Moiola ; Massimo Filippi

OBJECTIVES:

Multiple sclerosis clinicians are continuously challenged to be innovative in delivering therapies and there is ongoing pressure to maximize day-hospital vacancies. We describe our single-center experience with ocrelizumab (OCR) rapid infusion (OCR-RI) in patients with MS (pwMS).

METHODS:

For pwMS with prior exposure to OCR standard infusion (OCR-SI) for at least one year/two cycles, infusion time was reduced from 3.5 to 2.0 h. A comparative analysis between OCR-RI vs OCR-SI patients was conducted.

RESULTS:

283 (76.7%) out of 369 OCR-treated pwMS performed OCR-RI; 86 subjects did not start OCR-RI due to infusion-related reactions (IRR) occurring with OCR-SI (n = 13) or OCR-treatment duration shorter than one year (n = 73). Disease duration was longer in OCR-RI (p < 0.001). Median numbers of overall-OCR and OCR-RI cycles were 7 (IQR = 5-8) and 4 (IQR = 2-5) (p < 0.001). Overall, 38 (10.3%) IRR were reported, 25 (8.8%) in OCR-RI and 13 (15.1%) in OCR-SI group. IRR frequency did not differ between the two groups (p = 0.106). IRR included throat irritation, rash, hypotension, fever and gastrointestinal symptoms. IRR severity was mild (81.6%) or moderate (18.4%), all resolved and did not differ in distribution between the two groups. When IRR occurred, infusions were temporarily stopped, hydration and/or symptomatic medications were given and infusions were subsequently resumed at standard velocity. OCR-RI was not a risk factor for IRR (OR 0.55, 95% CI: 0.27-1.13, p = 0.096).

CONCLUSIONS:

In our cohort, IRR frequency, severity and management were comparable to literature. No severe IRR were observed. RI protocols represent a strategy to optimize patients' management in the clinic.

News (Medical) associated with WAGR Syndrome

18 Aug 2022

·www.prnewswire.com

Northwestern Mutual Invests in Diverse Pipeline of Pediatric Oncology Researchers

Grants awarded through Alex's Lemonade Stand Foundation will support 10 students nationwide MILWAUKEE, Aug. 18, 2022 /PRNewswire/ -- Continuing its commitment to the fight against childhood cancer and increasing diversity in the pediatric oncology research community, Northwestern Mutual, through its Foundation, is once again sponsoring a cohort of researchers through Alex's Lemonade Stand Foundation's 2022 Pediatric Oncology Student Training (POST) Program. The company has dedicated $50,000 to support 10 undergraduate, graduate or medical students through an 8-10 week training program, pairing them with mentors who are conducting research in the field of pediatric oncology. "Although more than 17,000 children are diagnosed with cancer in the United States each year, childhood cancer research continues to be significantly underfunded," said Steve Radke, president, Northwestern Mutual Foundation. "These students hold the key to future research breakthroughs, and we are honored to support them as they advance their knowledge and passion in discovering innovative childhood cancer treatments." Established by Alex's Lemonade Stand Foundation in 2011, the POST Program aims to increase exposure to the field of pediatric oncology and develop practical research skills among undergraduate, graduate and medical students, while also providing students with the opportunity to experience research firsthand. Encouraging a more diverse pipeline of researchers, Northwestern Mutual's grant will support students from underrepresented backgrounds as they pursue research related to childhood cancer. "Northwestern Mutual's commitment to children with cancer is extraordinary," said Liz Scott, mother of Alex Scott and Co-Executive Director of Alex's Lemonade Stand Foundation. "Their investment in young researchers through our Pediatric Oncology Student Training program is another example of their commitment to supporting the next generation of researchers dedicated to improving the lives of kids with cancer." The 2022 cohort of Pediatric Oncology Student Training Program students are conducting research projects with a variety of focuses, including Financial Toxicity at End-of-Life and Beyond, Wilms Tumor Risk and Management in WAGR Syndrome, Understanding Disparities in Pediatric Solid Tumor Oncology Trial Enrollment, and Characterizing Therapeutic Vulnerabilities in Mismatch Repair Deficient Pediatric High-grade Gliomas. The complete list of 2022 POST Program recipients can be found here. Since 2012, the Northwestern Mutual Foundation has been committed to advancing the search for better treatments and cures for pediatric cancer through its Childhood Cancer Program by donating more than $45 million to support families and survivors and has funded more than 520,000 hours of research with partners like Alex's Lemonade Stand Foundation and other nonprofit organizations across the United States. About Northwestern Mutual Foundation The mission of the Northwestern Mutual Foundation is to improve the lives of children and families in need. The Foundation has given more than $400 million since its inception in 1992 and is designed to create lasting impact in the communities where the company's employees and financial representatives live and work. We accomplish this by combining financial support, volunteerism, thought leadership and convening community partners to deliver the best outcomes. Our efforts are focused nationally on curing childhood cancer, and locally on education, neighborhoods and making our hometown of Milwaukee a great destination. Visit Northwestern Mutual Foundation to learn more. About Alex's Lemonade Stand Foundation Alex's Lemonade Stand Foundation (ALSF) emerged from the front yard lemonade stand of 4-year-old Alexandra "Alex" Scott, who was fighting cancer and wanted to raise money to find cures for all children with cancer. Her spirit and determination inspired others to support her cause, and when she passed away at the age of 8, she had raised $1 million. Since then, the Foundation bearing her name has evolved into a national fundraising movement. Today, ALSF is one of the leading funders of pediatric cancer research in the U.S. and Canada raising more than $250 million so far, funding over 1,000 research projects and providing programs to families affected by childhood cancer. For more information, visit AlexsLemonade.org. About Northwestern Mutual Northwestern Mutual has been helping people and businesses achieve financial security for more than 165 years. Through a holistic planning approach, Northwestern Mutual combines the expertise of its financial professionals with a personalized digital experience and industry-leading products to help its clients plan for what's most important. With more than $560 billion in combined company and client assets, $34 billion in revenues, and $2.1 trillion worth of life insurance protection in force, Northwestern Mutual delivers financial security to nearly five million people with life, disability income and long-term care insurance, annuities, and brokerage and advisory services. Northwestern Mutual ranked 97 on the 2022 FORTUNE 500 and was recognized by FORTUNE® as one of the "World's Most Admired" life insurance companies in 2022. Northwestern Mutual is the marketing name for The Northwestern Mutual Life Insurance Company (NM), Milwaukee, WI (life and disability insurance, annuities, and life insurance with long-term care benefits) and its subsidiaries. Subsidiaries include Northwestern Mutual Investment Services, LLC (NMIS) (investment brokerage services), broker-dealer, registered investment adviser, member FINRA and SIPC; the Northwestern Mutual Wealth Management Company® (NMWMC) (investment advisory and services), federal savings bank; and Northwestern Long Term Care Insurance Company (NLTC) (long-term care insurance). Not all Northwestern Mutual representatives are advisors. Only those representatives with "Advisor" in their title or who otherwise disclose their status as an advisor of NMWMC are credentialed as NMWMC representatives to provide investment advisory services. SOURCE Northwestern Mutual

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WAGR Syndrome

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