Hereditary Sensory Neuropathy Type 1 (HSN1)
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Hereditary Sensory Neuropathy Type 1 (HSN1) Overview

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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.
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
Who are the top Hereditary Sensory Neuropathy Type 1 (HSN1) Local Doctors?
Elite in Hereditary Sensory Neuropathy Type 1 (HSN1)
Thorsten Hornemann
Elite in Hereditary Sensory Neuropathy Type 1 (HSN1)
Thorsten Hornemann
Zurich, ZH, CH 

Thorsten Hornemann practices in Zurich, Switzerland. Mr. Hornemann is rated as an Elite expert by MediFind in the treatment of Hereditary Sensory Neuropathy Type 1 (HSN1). His top areas of expertise are Hereditary Sensory Neuropathy Type 1 (HSN1), Hereditary Sensory and Autonomic Neuropathy Type 2, Hajdu-Cheney Syndrome, Anhidrosis, and Gastric Bypass.

Elite in Hereditary Sensory Neuropathy Type 1 (HSN1)
Dr. Florian Eichler
Pediatric Neurology
Elite in Hereditary Sensory Neuropathy Type 1 (HSN1)
Dr. Florian Eichler
Pediatric Neurology

Massachusetts General Hospital

55 Fruit St, 
Boston, MA 
617-726-6093
Languages Spoken:
English
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Florian Eichler is a Pediatric Neurologist in Boston, Massachusetts. Dr. Eichler is rated as an Elite provider by MediFind in the treatment of Hereditary Sensory Neuropathy Type 1 (HSN1). His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Tay-Sachs Disease, Gangliosidosis, and Gastrostomy.

 
 
 
 
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Elite in Hereditary Sensory Neuropathy Type 1 (HSN1)
Dr. Michael Shy
Neurology
Elite in Hereditary Sensory Neuropathy Type 1 (HSN1)
Dr. Michael Shy
Neurology

University Of Iowa Stead Family Children's Hospital

200 Hawkins Dr, 
Iowa City, IA 
319-356-8753
Languages Spoken:
English
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Michael Shy is a Neurologist in Iowa City, Iowa. Dr. Shy is rated as an Elite provider by MediFind in the treatment of Hereditary Sensory Neuropathy Type 1 (HSN1). His top areas of expertise are Charcot-Marie-Tooth Disease, Hereditary Sensory Neuropathy Type 1 (HSN1), Sensorimotor Polyneuropathy, and Septic Arthritis.

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What are the latest Hereditary Sensory Neuropathy Type 1 (HSN1) Clinical Trials?
A Phase I/IIa, Open-label, Multi-center Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of the ATR Kinase Inhibitor ART0380 Administered Orally as Monotherapy and in Combination to Patients With Advanced or Metastatic Solid Tumors
A Phase I/IIa, Open-label, Multi-center Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of the ATR Kinase Inhibitor ART0380 Administered Orally as Monotherapy and in Combination to Patients With Advanced or Metastatic Solid Tumors
Who is this study for: Patients with Cancer
Enrollment Status: Recruiting
Publish Date: January 05, 2026
Intervention Type: Drug
Study Drugs: ART0380, Gemcitabine
Study Phase: Phase 1/Phase 2

Summary: This clinical trial is evaluating a drug called ART0380 in participants with advanced or metastatic solid tumors. The main goals of this study are to: * Find the recommended dose of ART0380 that can be given safely to participants alone and in combination with gemcitabine or irinotecan * Learn more about the side effects of ART0380 alone and in combination with gemcitabine or irinotecan * Learn mo...

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A Phase I, Multicenter Study to Assess the Safety, Tolerability, and Pharmacokinetics of Ascending Doses of AZD1390 in Combination With Radiation Therapy in Patients With Glioblastoma Multiforme and Brain Metastases From Solid Tumors
A Phase I, Multicenter Study to Assess the Safety, Tolerability, and Pharmacokinetics of Ascending Doses of AZD1390 in Combination With Radiation Therapy in Patients With Glioblastoma Multiforme and Brain Metastases From Solid Tumors
Who is this study for: Patients with glioblastoma multiforme and brain metastases from solid tumors
Enrollment Status: Recruiting
Publish Date: December 22, 2025
Intervention Type: Radiation, Drug
Study Drug: AZD1390
Study Phase: Phase 1

Summary: This study will test an investigational drug called AZD1390 in combination with radiation therapy for the treatment of brain tumors. This is the first time AZD1390 is being given to patients. This study will test safety, tolerability and PK (how the drug is absorbed, distributed and eliminated) of ascending doses of AZD1390 in combination with distinct regimens of radiation therapy

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