Research in
achondroplasia
Research in achondroplasia is ongoing, with a focus on understanding the underlying genetic and molecular mechanisms of the condition and developing potential treatments to help children and their families. Future breakthroughs in research may lead to more effective therapies, and ongoing clinical trials offer hope for potential treatments in the coming years.
Various organizations and advocacy groups dedicated to achondroplasia continue to raise awareness and support research efforts. They provide resources for affected individuals and their families and work to promote the development of treatments and interventions.
Research,
Therapies
& Trials
There are multiple types of research which are on-going which either directly or indirectly involve children and adults with achondroplasia. Here are some listed below.
Basic Science
Basic science research involves studies with the goal of understanding biological processes. Examples of this type of research in achondroplasia include work to understand the role of FGFR3 signaling in the growth plate and other tissues. Studies like this are performed in a laboratory using cell and animal models. This type of research can provide insights into fundamental biological pathways.
Translational
The goal of translational research is to translate the results from basic science into results that can directly benefit humans. Translational research is the “bridge” between basic science and clinical research and is an important piece of overall research in achondroplasia. The identification of a drug which may alter the pathophysiology in cell and animal models can be an important aim of translational research. If a potential drug can be identified it may become a candidate for a clinical interventional trial in humans.
Clinical
The path from the development of a compound to a clinical trial is a complex and time-consuming process. Significant work must be undertaken to demonstrate how safe a new treatment is and how it works before approval for a clinical trial to be conducted can be obtained. Generally speaking, clinical trials in humans are broken into three phases.
In Phase 1 trials, healthy human adult volunteers are dosed with an investigational new drug, and the goal of the Phase 1 trial is to determine how safe the drug is.
In Phase 2 trials, typically the target population (such as specifically children with achondroplasia) is given various doses of the investigational drug to further determine how safe a drug is and to select the dose of the drug needed for the desired effects (such as bone growth).
In Phase 3 trials, the selected dose of an investigational drug is given to the target population to demonstrate and confirm if the drug is safe and effective. The gold standard for this type of trial is a double blinded and placebo-controlled trial. A blinded trial means that both the participants and the researchers do not know which participants are receiving drug treatment and which are receiving placebo. A placebo is a harmless substance that looks like an investigational drug but has no active drug properties.
Following the completion of a Phase 3 trial, application can be made to the appropriate governmental agencies for them to determine if the drug can be approved for clinical use. If a drug is approved for clinical use, this means that a doctor at a clinic can prescribe the medication.
More information about active clinical trials can be found at www.clinicaltrials.gov.
Quality of Life
Natural History
Natural history research involves the study of the course of a condition over the lifespan. In a natural history study the participants do not receive any intervention or treatment, and the information about individuals with achondroplasia may be gathered retrospectively (such as historical information from medical charts), or prospectively (when participants consent to share their medical history moving forward). These types of studies are critical in understanding what is expected for a person with achondroplasia.
Natural history research has been used to construct growth charts and understand the medical complications associated with achondroplasia. An example of this type of research includes studying the foramen magnum in achondroplasia by reviewing the medical history and trajectory of surgeries for children with achondroplasia. Because of natural history studies in achondroplasia there is an improved understanding of how children with achondroplasia grow and develop, as well as of the age at which the foramen magnum becomes a medical concern and how often surgery is performed. Understanding the natural history of achondroplasia is essential for improved clinical care.
Interventional
Interventional research does not always mean drug intervention but can include research with newly developed drug therapies for children with achondroplasia. When research is performed with an aim of improving supportive care and management strategies this can be termed interventional research. It may mean, for example, studying whether a surgical intervention leads to improved function or whether obtaining an MRI of the brain at a specific age may improve outcomes for individuals with achondroplasia related to foramen magnum stenosis. This type of research can lead to the development of guidelines for monitoring and treating complications associated with achondroplasia.
How do new medications become available?
The drug approval process can take a long time and it requires scientists, researchers, doctors, patients, and the government to work together. We can break this process down into 3 steps: drug discovery, clinical trials, and approval.
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