Achondroplasia News and Research

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Oral drug offers promising advance for children with achondroplasia

A phase 3 trial is showing "a potentially giant step forward," in treating children with achondroplasia, UCLA Health's Dr. Isidro B. Salusky wrote in a new editorial published in the New England Journal of Medicine (NEJM).

4 Sep 2026

New trial shows oral therapy increases growth in children with achondroplasia

New findings from a trial conducted at Children's Hospital Colorado (Children's Colorado) and University of Colorado (CU) Anschutz School of Medicine demonstrate significantly increased growth rates in children with achondroplasia, the most common form of dwarfism.

30 Jun 2026

New mouse model uncovers achondroplasia's cellular growth plate dysregulation

Achondroplasia, also known as short-limb dwarfism, is associated with neurological symptoms and complications due to narrowing of the skeletal structures surrounding the spinal cord.

26 Feb 2026

PDE3 inhibitors show promise in promoting bone growth

Bone growth occurs through the proliferation of specialized cells of the cartilage tissue, known as chondrocytes, on either end of a bone.

17 Jun 2025

New therapeutic frontiers in the management of achondroplasia

A recent publication in Genes & Diseases has delivered a compelling synthesis of the latest insights into the cellular mechanisms and therapeutic interventions for achondroplasia, the most common form of genetic dwarfism.

20 Apr 2025

Genetic pathways explain why some people grow tall and others stay short

A landmark review in Nature Reviews Genetics dissects the rare and common genetic variants that shape human height. The paper explains how monogenic and polygenic factors converge on key growth pathways and influence disease risk.

7 Apr 2025

Daily tablet shows promise in treating achondroplasia in children

A promising daily tablet is effective at increasing height and improving proportional limb growth in children with achondroplasia, the most common form of dwarfism, according to a new study.

18 Nov 2024

Vosoritide's first phase 2 study shows increased growth in children with hypochondroplasia

Vosoritide's first global phase 2 study showed an average increased growth rate of 1.8 cm per year in children with hypochondroplasia, a genetic cause of short stature in children, according to researchers from Children's National Hospital.

13 Apr 2024

Drug for children with achondroplasia may help reduce chances of SIDS

A drug that boosts bone growth in children with the most common form of dwarfism, may also reduce their chances of sudden infant death syndrome, sleep apnea and needing surgery, according to a new study.

21 Nov 2023

Exploring developmental pathways and disease interactions in nervous and stomatognathic systems

Scientists discuss the intricate relationship between the nervous and stomatognathic systems.

21 Aug 2023

Study details health risks, growth patterns, and treatment outcomes of people with achondroplasia

In a retrospective study believed to be one of the largest of its kind, researchers say they have successfully charted the health risks, growth patterns, and medical and surgical outcomes of 1,374 people with the most common form of dwarfism, called achondroplasia, seen over a 60-year period at four academic medical centers, including Johns Hopkins Medicine.

21 Jun 2021

Groundbreaking drug boosts growth rates in children with achondroplasia

A groundbreaking drug that helps regulate bone development has boosted growth rates in children with achondroplasia - the most common type of dwarfism - in a global trial led by Melbourne's Murdoch Children's Research Institute.

18 Jun 2019

Bioactive compounds in cocoa bean extract could be used to develop new treatment for skeletal diseases

An international team of researchers, led by the University of Granada (UGR) in Spain, has successfully isolated a bioactive compound present in cocoa bean extract that has proven effective in combatting skeletal diseases such as achondroplasia.

7 May 2019

New report expresses ethical concerns about use of non-invasive prenatal testing

A new report on non-invasive prenatal testing by the UK's Nuffield Council on Bioethics expresses concerns about the way the test is being sold by private providers.

1 Mar 2017

Rosuvastatin promotes bone growth in mice with achondroplasia symptoms

Skeletal dysplasia is a group of rare diseases that afflict skeletal growth through abnormalities in bone and cartilage. Its onset hits at the fetal stage and is caused by genetic mutations.

18 Sep 2014

BioMarin to initiate BMN-111 Phase 1 trial in achondroplasia

BioMarin Pharmaceutical Inc. announced today that the Investigational New Drug (IND) application for BMN-111, an analog of C-type Natriuretic Peptide (CNP), for achondroplasia is active.

4 Jan 2012

Children of childhood cancer survivors do not have increased risk for birth defects

A large, retrospective study of the children of childhood cancer survivors who were treated with radiation therapy and/or some forms of chemotherapy found that the offspring do not have an increased risk for birth defects compared to children of cancer survivors who did not receive such treatments.

14 Dec 2011

BioMarin to acquire Pfizer's Ireland manufacturing plant

BioMarin Pharmaceutical Inc. announced today that it has entered into a definitive agreement to acquire a bulk biologics manufacturing plant from Pfizer, located in Shanbally, Cork, Ireland.

24 Jun 2011

BioMarin announces BMN-111 program for treatment of achondroplasia

BioMarin Pharmaceutical Inc. today announced its program for BMN-111, a peptide therapeutic for the treatment of achondroplasia. BioMarin plans to file an IND in the fourth quarter of 2011 and to initiate a Phase 1 clinical trial by the first quarter of 2012.

19 Oct 2010

Rare form of testicular tumour provides new insight into how genetic changes arise in children

A rare form of testicular tumour has provided scientists with new insights into how genetic changes (mutations) arise in our children. The research, funded by the Wellcome Trust and the Danish Cancer Society, could explain why certain diseases are more common in the children of older fathers.

26 Oct 2009