Learn About Hereditary Sensory Neuropathy Type 1 (HSN1)

What is the definition of Hereditary Sensory Neuropathy Type 1 (HSN1)?
Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. HSN1 is caused by genetic changes in any of several genes, depending on the form of HSN1 (HSN1A is caused by genetic changes in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by genetic changes in the SPTLC2 gene; HSN1D is caused by genetic changes in the ATL1 gene and HSN1E is caused by genetic changes in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner.
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What are the alternative names for Hereditary Sensory Neuropathy Type 1 (HSN1)?
  • Hereditary sensory neuropathy type 1
  • HSAN 1
  • HSN1
  • Hereditary sensory and autonomic neuropathy type 1
  • Neuropathy hereditary sensory and autonomic type 1
  • Neuropathy hereditary sensory radicular, autosomal dominant
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What are the latest Hereditary Sensory Neuropathy Type 1 (HSN1) 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 Hereditary Sensory Neuropathy Type 1 (HSN1)?
Destructive Spondyloarthropathy due to Congenital Insensitivity to Pain with Anhidrosis: A Case Report of Long-Term Follow-Up.
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.
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