Hypophosphatasia News and Research

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Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease.

Insilico Medicine to present scientific data on novel anti-cancer assets at major cancer conferences

Clinical stage artificial intelligence (AI) drug discovery company Insilico Medicine ("Insilico") has been invited to present scientific data on its novel anti-cancer assets at three major upcoming cancer conferences -- the European Society for Medical Oncology (ESMO) conference in Madrid Oct. 20-24, 2023; the Society of Immunotherapy of Cancer (SITC) conference Nov. 1-5, 2023 in San Diego; and the San Antonio Breast Cancer Symposium (SABCS) Dec. 5-9, 2023.

16 Oct 2023

$Researchers report a new genetic cause for infantile fractures$

Researchers report a new genetic cause for infantile fractures

An intrauterine fracture is a rare finding during routine prenatal imaging. This condition can be due to maternal trauma, genetic disorders of the skeleton, as well as other predisposing maternal metabolic and vascular disorders.

18 Jun 2021

Gene therapy may be a safe and effective single-dose treatment for soft bone disease

A preclinical study led by scientists at Sanford Burnham Prebys has established that AAV8-TNAP-D10--a gene therapy that replaces a key enzyme found in bone--may be a safe and effective single-dose treatment for hypophosphatasia (HPP).

7 Jun 2021

POU1F1 gene variant linked to pituitary dwarfism in Karelian Bear Dogs

A study carried out at the University of Helsinki investigated pituitary dwarfism in Karelian Bear Dogs and found a link to a variant of the POU1F1 gene. The results can also help understand the gene's significance to the human pituitary gland's development and function.

22 Feb 2021

Weak evidence found on added benefit of asfotase alfa treatment for infants with hypophosphatasia

Hypophosphatasia (HPP) is a rare congenital metabolic disorder. The frequency of severe courses of disease is estimated at 1:100 000: A deficiency of the enzyme phosphatase results in insufficient mineralization of the bones and thus in severe skeletal malformations.

27 Jan 2020

Study: 15,000 cases of hypophosphatasia potentially undetected in Spanish population

Hypophosphatasia (HPP) is a rare and serious hereditary disease that is potentially life-threatening and is caused by one or more mutations in the gene coding for alkaline phosphatase (ALPL). It is frequently misdiagnosed.

15 Nov 2019

Researchers uncover first spontaneous animal model of human hypophosphatasia

A research group led by Professor Hannes Lohi at the University of Helsinki and Folkhälsan Research Center has uncovered a new skeletal disease in dogs.

30 Jan 2019

Alexion announces positive results from Phase 3 PREVENT study of Soliris in patients with NMOSD

Alexion Pharmaceuticals, Inc. today announced positive topline results from the Phase 3 PREVENT study of Soliris in patients with anti-aquaporin-4 auto antibody-positive neuromyelitis optica spectrum disorder.

24 Sep 2018

Alexion initiates new global Uncommon Strength campaign to raise awareness of rare diseases

Alexion Pharmaceuticals, Inc. today announced the launch of Uncommon Strength, a global campaign to raise awareness of rare diseases through the celebration of the extraordinary resilience and inner strength of those impacted by these diseases.

15 Sep 2016

Strensiq approved for treatment of patients with juvenile-onset HPP

Today, the U.S. Food and Drug Administration approved Strensiq (asfotase alfa) as the first approved treatment for perinatal, infantile and juvenile-onset hypophosphatasia (HPP).

24 Oct 2015

Japanese researchers explore use of bone marrow transplants to treat hypophosphatasia

Recent research carried out by a team of researchers in Japan has investigated the use of bone marrow transplants (BMTs) to treat hypophosphatasia (HPP). In this study, the researchers carried out BMT for two infants with HPP in combination with allogenic (other-donated) mesenchymal stem cell transplants (MSCTs). The allogenic MSC donors were a parent of the infant.

10 Feb 2015

Enzyme therapy may prevent skeletal abnormalities associated with neurofibromatosis type-1

An enzyme therapy may prevent skeletal abnormalities associated with the genetic disorder neurofibromatosis type-1, Vanderbilt investigators have discovered.

15 Aug 2014

Alexion Pharmaceuticals reports full year 2013 GAAP and non-GAAP financial results

Alexion Pharmaceuticals, Inc. today announced financial results for the quarter and year ended December 31, 2013. For the three months ended December 31, 2013, Alexion Pharmaceuticals, Inc. ("Alexion" or the "Company") reported net product sales of Soliris® (eculizumab) of $441.9 million, compared to $320.5 million for the same period in 2012.

30 Jan 2014

Asfotase alfa gets Breakthrough Therapy designation from FDA for treatment of patients with HPP

Alexion Pharma International Sàrl, a subsidiary of Alexion Pharmaceuticals, Inc., today announced that the U.S. Food and Drug Administration has granted Breakthrough Therapy designation to asfotase alfa for the treatment of patients with hypophosphatasia (HPP) whose first signs or symptoms occurred prior to 18 years of age, including perinatal-, infantile-, and juvenile-onset forms of the disease.

28 May 2013

Osteopontin plays a role in X-linked hypophosphatemia

Diagnosed in toddlers, X-linked hypophosphatemia (XLH) is the most common form of heritable rickets, in which soft bones bend and deform, and tooth abscesses develop because infections penetrate soft teeth that are not properly calcified. Researchers at McGill University and the Federal University of Sao Paulo have identified that osteopontin, a major bone and tooth substrate protein, plays a role in XLH. Their discovery may pave the way to effectively treating this rare disease.

21 Feb 2013

Alexion second quarter net product sales increase to $274.7 million

Alexion Pharmaceuticals, Inc. today announced financial results for the three and six months ended June 30, 2012.

25 Jul 2012

Doctors identify promising new treatment for hypophosphatasia

Doctors at Washington University School of Medicine in St. Louis, working with Shriners Hospital for Children and other institutions, have identified a promising new treatment for a rare and sometimes life-threatening bone disorder that can affect infants and young children.

8 Mar 2012

Alexion to acquire 100% of capital stock of Enobia

Alexion Pharmaceuticals, Inc. and Enobia Pharma Corp. today announced that the companies have signed a definitive agreement under which Alexion will acquire 100% of the capital stock of Enobia.

29 Dec 2011

Enobia raises US$40M through private placement

Enobia Pharma Inc., a clinical stage biotech company focused on developing novel therapeutics for serious bone disorders, today announced that it has raised US$40 million through the private placement of approximately 13,724,000 shares of its common stock to new pharmaceutical and financial investors.

10 Aug 2011

Enobia completes patient enrollment in ENB-0040 Phase II study for HPP

Enobia Pharma Inc., today announced that it has successfully completed enrollment in its Phase II study of ENB-0040, a bone targeted enzyme replacement therapy being investigated in adolescents and adults with hypophosphatasia, a serious, rare metabolic bone disorder.

25 Feb 2011