What is dwarfism ?
Dwarfism refers to short stature with an adult height of 4 ft and 10 inches or shorter. Dwarfism can be a component of over 200 distinct medical conditions. Many people with dwarfism prefer to be called “little people”.
What is achondroplasia ?
Achondroplasia is the most common form of dwarfism accounting for over 70% of dwarfism. It is often considered the prototype for dwarfism in humans.
What is achondroplasia ?
Achondroplasia is the most common form of dwarfism accounting for over 70% of dwarfism. It is often considered the prototype for dwarfism in humans.
Does achondroplasia affect mental abilities or life span?
No, people with achondroplasia have average intelligence and life expectancy. They are businessman, doctors, lawyers, engineers, architects, historians, teachers, librarians etc.
Can anyone give birth to a child with achondroplasia ?
Yes, in fact 80%-90% of people with achondroplasia are born to average height parents with siblings of average height. There are no known reasons for the occurrence of achondroplasia. It is a random event, more or less like winning the lottery. Most of the time (80%-90%), it results from a new mutation in a family with no previous history of achondroplasia. Individuals with achondroplasia may pass it on to their children an average of 50% of the time.
What is the occurrence rate of achondroplasia ?
Achondroplasia is rare with an estimated occurrence between 1 in every 10,000 to 30,000 live births. This birth rate translates to about 10,000 to 30,000 people with achondroplasia in the USA. A person with achondroplasia has a 50% chance of passing on the condition with each pregnancy.
What causes achondroplasia?
Achondroplasia is a genetic condition caused by a single point mutation in the gene FGFR3 (Fibroblast Growth Factor Receptor 3). The function of this gene is to regulate linear bone growth, especially in the limbs.
How is achondroplasia diagnosed ?
Achondroplasia is typically diagnosed during infancy from clinical features, i.e., disproportionately short limbs and prominent forehead, and characteristic skeletal X-rays. Molecular genetic testing can confirm the diagnosis. Achondroplasia may be suspected before birth based on ultrasound detection of short limb bones, and it can be diagnosed prenatally by molecular testing. Unless a parent has achondroplasia, achondroplasia is rarely diagnosed before the third trimester.
How is achondroplasia managed ?
The current management of achondroplasia primarily involves careful monitoring of child development with special emphasis on anticipating complications known to frequently occur at different ages. These complications can usually be reduced in severity through early recognition and prompt treatment, which frequently involves surgery to counter the effects of disproportional bone growth. Common complications requiring surgery include:
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Spinal cord compression at opening through which it exits the skull (foreman magnum)
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Spinal deformity – Kyphosis and lordosis
Chronic middle ear infection
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Upper airway obstruction due to smaller than average nasal, oral and laryngeal cavities.
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Bowing of legs
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Spinal cord compression in lower spine. (spinal stenosis)
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Are there any alternatives to surgery like drug therapy ?
Currently there are no drug therapies to correct the underlying bone growth disturbance, i.e., to replace these surgeries, in achondroplasia. However, recent advances in molecular biology and drug therapeutics are creating exciting opportunities for nonsurgical interventions. Indeed, the first drug therapy for achondroplasia begining clinical trials in 2012 under the sponsorship of a U.S. pharmaceutical company, BioMarin. Their drug is related to naturally occurring protein called C-type natriuretic peptide (CNP) and has shown promise for increasing proportional bone growth in animals. It will be given as a daily injection, like growth hormone (growth hormone is not effective in dwarfs).
When can we expect to see drug therapies as alternatives to surgical intervention ?
As for all new drugs, several years will be needed to validate that CNP-based therapies are both effective and safe. Based on the pace of research in the achondroplasia field, it is likely that other novel drug approaches will emerge during this period. Another possibility is that drugs used to treat other diseases may be found to benefit bone growth in achondroplasia; such drugs may have the advantage already of having been tested for safety.
What will drug therapies look like ?
This is hard to predict. However, researchers have a goal to make drug delivery as simple as possible. In the ideal case within the next 5-10 years, infants and children with achondroplasia will have a simple pill or syrup to be taken once a week available for treatment. This dosage will ideally affect bone growth and eliminate the need for the surgeries listed above.
How will non-profit funding help develop drug therapies ?
Typically drug therapies are based on scientific discoveries made by researchers in academic, non-profit, settings, usually a laboratory within a university, hospital or other research institution. Funding for these academic laboratories generally comes from grants provided by public institutions, such as the NIH (National Institutes of Health) or foundations dedicated to specific diseases such as muscular dystrophy. Research of this type often provides the scientific foundation needed for development of drugs that eventually make their way to the clinic. One way to view drug development is as a pipeline. Ideas originating in the non-profit academic laboratory progress to a critical stage where prototype drugs are tested in animals to establish “proof of concept”. Once this milestone is reached, the candidate drug is transferred to the pharmaceutical industry for further development, including optimization and clinical trials.Most public medical research funding is targeted towards conditions that affect millions of people instead of to rare, non-fatal conditions like achondroplasia. While understandable, this strategy creates an unmet need in terms of developing effective therapies for achondroplasia. Toward this end, Growing Stronger has taken upon itself to raise funds through a non-profit mechanism to meet this need. More specifically, our goal is to foster research dedicated to developing new drugs for achondroplasia. Linked to this goal is the aim to reduce the need for surgery and the expectation that promising prototype drugs developed with Growing Stronger support will be transferred to industry for optimization, clinical trials and other prerequisites to bringing a drug to market.
What does $100K/year of non-profit funding provide?
$100K/year supports a mentored scientist working under an established world-class scientist to carry out research for prototype drugs that would influence proportional bone growth and eliminate the need for repeated surgeries in achondroplasia. The mentored scientist would have a PhD in a relevant field and devote full time to this project, which would involve a combination of bench (test tube) and cell culture research and experiments in achondroplastic mice. The funds will cover this individual stipend/salary and fringe benefits and the costs of minor equipment, supplies, mouse housing and other reagents and services needed to carry out the investigation.
Watch a video from doctors who have been supported by Growing Stronger grants.
Watch a video from doctors who have been supported by Growing Stronger grants.
What is the roadmap for funding ?
With 10,000 to 30,000 dwarfism-affected families in the US, and hundreds of thousands more around the world, we hope to motivate the larger community of people who support little people to collectively raise over $10M per year for the next 10 years. If you are interested in joining Growing Stronger please contact us via email at: info@growingstronger.org. To donate please visit the donate page.
