What current research is being done on achondroplasia?
BioMarin is currently testing the BMN-111 drug in average statured adults to determine if it is safe for humans. Once it is considered by the FDA (US Food and Drug Administration) to be safe, BioMarin intends to begin a trial in children with achondroplasia.
Is there a cure coming soon for achondroplasia?
Currently there are no treatments able to reverse achondroplasia, which is caused by mutations in a gene — called FGFR3 — that result in the excess production of proteins that slow bone growth, nor are there ways to treat the genetic culprit itself.
Is there gene therapy for achondroplasia?
Currently there is no treatment for achondroplasia. Scientists on the EU-funded ‘Development of biotherapies for growth plate disorders’ (GENECELLTHER) project proposed gene therapy for treating children with achondroplasia.
What is the life expectancy for a person with achondroplasia?
Achondroplasia is the most common cause of dwarfism and affects about 1 in 27,500 people….
| Achondroplasia | |
|---|---|
| Treatment | Support groups, growth hormone therapy, treatment of complications |
| Prognosis | 10-year shorter life expectancy |
| Frequency | 1 in 27,500 people |
What treatments are available for achondroplasia?
Achondroplasia Treatment Options
- Spinal fusion to stabilize the spine.
- Spinal decompression to free up the compressed spinal cord or nerve roots.
- Guided-growth surgery and/or osteotomy (cutting bone) to correct uneven growth or abnormal rotation of the bones.
- Limb-lengthening surgery to add length in the legs or arms.
Can we prevent achondroplasia?
Currently, there is no way to prevent achondroplasia, since most cases result from unexpected new mutations. Doctors may treat some children with growth hormone, but this does not significantly affect the height of the child with achondroplasia. In some very specific cases, surgeries to lengthen legs may be considered.
Who is most likely to get achondroplasia?
Affected Populations Achondroplasia appears to affect males and females in equal numbers. This disorder begins in the developing fetus and is one of the most common forms of skeletal dysplasia that causes dwarfism. The estimated frequency of achondroplasia has ranged from about one in 15,000 to one in 35,000 births.
At what age is dwarfism apparent?
Disproportionate dwarfism is usually apparent at birth or early in infancy. Proportionate dwarfism may not be diagnosed until later in childhood or the teenage years if your child isn’t growing at an expected rate.
How long is the average lifespan of a person with achondroplasia?
According to the NHGRI , most people with achondroplasia have a normal life span. However, there’s a slightly increased risk of death during the first year of life. There may also be an increased risk of heart disease later in life.