Learn About Zellweger Syndrome

What is the definition of Zellweger Syndrome?
Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities. Affected children also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. Zellweger syndrome is caused by genetic changes in any one of at least 12 genes; genetic changes in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner.
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What are the alternative names for Zellweger Syndrome?
  • Zellweger syndrome
  • CHR
  • Cerebrohepatorenal syndrome
  • ZS
  • ZWS
  • Zellweger leukodystrophy
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What are the latest Zellweger Syndrome Clinical Trials?
MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG

Summary: This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).

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Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Zellweger Syndrome?
Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.
Cholbam® and Zellweger spectrum disorders: treatment implementation and management.
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Peroxisomal Dysfunction and Oxidative Stress in Neurodegenerative Disease: A Bidirectional Crosstalk.