X-Linked Hypophosphatemia Overview

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Learn About X-Linked Hypophosphatemia

What is the definition of X-Linked Hypophosphatemia?
X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usually diagnosed in childhood. Features include bowed or bent legs, short stature, bone pain, and severe dental pain. XLH is caused by genetic changes in the PHEX gene on the X chromosome, and inheritance is X-linked dominant.
What are the alternative names for X-Linked Hypophosphatemia?
  • X-linked hypophosphatemia
  • HPDR
  • Hypophophatemia, X-linked
  • Hypophophatemic vitamin D-resistant rickets
  • Hypophosphatemic rickets, X-linked dominant
  • Vitamin D-Resistant Rickets, X-linked
  • X-linked hypophosphatemic rickets
  • XLH
Who are the top X-Linked Hypophosphatemia Local Doctors?
Leanne M. Ward
Elite in X-Linked Hypophosphatemia
Leanne M. Ward
Elite in X-Linked Hypophosphatemia
Leanne M. Ward
401 Smyth Rd, R250H, K1H 8L1, 
Ottawa, ON, CA 

Leanne Ward practices in Ottawa, Canada. Ward and is rated as an Elite expert by MediFind in the treatment of X-Linked Hypophosphatemia. Her top areas of expertise are Rickets, X-Linked Hypophosphatemia, Hypophosphatemia, and Malnutrition.

Maria L. Brandi
Elite in X-Linked Hypophosphatemia
Maria L. Brandi
Elite in X-Linked Hypophosphatemia
Maria L. Brandi
Florence, IT 

Maria Brandi practices in Florence, Italy. Brandi and is rated as an Elite expert by MediFind in the treatment of X-Linked Hypophosphatemia. Their top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Hypophosphatemia, Parathyroidectomy, and Hormone Replacement Therapy (HRT).

 
 
 
 
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Elite in X-Linked Hypophosphatemia
Dr. Michael Econs
Endocrinology
Elite in X-Linked Hypophosphatemia
Dr. Michael Econs
Endocrinology

University Medical Diagnostic Associates Inc

550 N University Blvd, 
Indianapolis, IN 
217-274-5000
Languages Spoken:
English
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Michael Econs is an Endocrinologist in Indianapolis, Indiana. Dr. Econs and is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. His top areas of expertise are Osteosclerosis Autosomal Dominant, Osteopetrosis, X-Linked Hypophosphatemia, and Hypophosphatemia.

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What are the latest X-Linked Hypophosphatemia Clinical Trials?
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Enrollment Status: Recruiting
Publish Date: February 12, 2025

Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...

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The ENERGY 3 Study: A Randomized, Controlled, Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of INZ-701 in Children With Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency
The ENERGY 3 Study: A Randomized, Controlled, Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of INZ-701 in Children With Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency
Enrollment Status: Recruiting
Publish Date: February 07, 2025
Intervention Type: Drug
Study Phase: Phase 3

Summary: The primary purpose of Study INZ701-106 (The ENERGY 3 Study) is to assess the efficacy and safety of INZ-701 in children with ENPP1 Deficiency.

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