Rare Daily Staff

Genetic test company Invitae said it has launched Discover Dysplasias, an initiative with BioMarin Pharmaceutical to offer genetic testing at no charge to patients who show signs or symptoms of having a skeletal dysplasia.

Skeletal dysplasias involve a group of rare, mostly genetic disorders that affect bones and joints and impact growth and development in children. BioMarin is in late-stage development of a therapy to treat achondroplasia, the most common form of human dwarfism. It also has therapies for certain MPS diseases that involve dysplasia.

“There are hundreds of different types of skeletal dysplasia, many with similar clinical features. If left untreated, patients can experience a variety of serious consequences, such as developmental delay, as well as serious spinal and joint problems,” said Robert Nussbaum, chief medical officer of Invitae. “By identifying the genetic cause of the disease earlier, clinicians can get children on a treatment plan specific to their precise condition sooner, which could help avoid or delay the most serious consequences of the disease.”

In some cases, signs are noticeable at birth, while more serious symptoms may not develop until later in childhood. Children with skeletal dysplasia may exhibit:

  • Short stature and/or slow rate of growth
  • Disproportionately large head or forehead
  • Disproportionately short arms or legs
  • Joint stiffness, pain or arthritis
  • Bowlegs or scoliosis
  • Cleft palate
  • Delayed developmental milestones, such as late walking

Skeletal dysplasias are typically diagnosed based on symptoms, clinician observation and diagnostic imaging. Genetic testing can provide a specific diagnosis and, in some cases, may help put patients on the path to disease-specific management sooner.

The Discover Dysplasias program is available to healthcare providers in the United States who can use the program to order testing for patients with signs or symptoms suggestive of or consistent with a diagnosis of skeletal dysplasia. Invitae is offering genetic testing for 109 genes associated with skeletal dysplasia, as well as no-charge genetic counseling to help clinicians, patients, and their families understand the results.

To be eligible, patients must have one of the following: skeletal abnormalities suggestive of skeletal dysplasia, short stature, disproportionate growth, dysmorphic facial features, or other signs or symptoms suggestive of a skeletal dysplasia.

Photo: Robert Nussbaum, chief medical officer of Invitae

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