Trials & Studies in AS

There are so many ways to get involved!

FAST is committed to keeping you up to date with the latest in Angelman research and trials. Here are a few resources to assist you in understanding the types of clinical trials that exist. We are here to keep you informed and up to date on the various different options available for individuals living with Angelman syndrome.

Observational Studies vs. Clinical Trials

What is the difference?

When we consider clinical trials, and try to understand each aspect and phase of these trials, we encourage reviewing the most well respected resources available which can be found  at clinicaltrials.gov or nih.gov. These are  the FDA and NIH websites, respectively. Nearly all United States interventional trials must be cleared through the FDA for initiation. Some more simple research studies do not require governmental agency approval, especially if it involves an already approved FDA drug or compound, a questionnaire, or field testing various different endpoints or biomarkers.

Often researchers will perform different types of clinical studies and the National Institutes of Health (NIH) tries to separate this clinical research into 2 main categories

  • Observational Studies
  • Clinical Trials

Observational Studies: In many clinical studies the investigator (sometimes referred to as a researcher, or a primary investigator [PI]), does not do any experiments or test new treatments on the individual with the disorder they are investigating. Instead, they observe them or may do some standardized assessments. This observation or assessment helps the investigator understand the disorder, better describe the condition, and understand the most impacted areas of that condition (for example: communication abilities, sleep, motor function, fine motor function, seizures, etc..). Types of observational studies you might see include:

A detailed description of a single (or a few) patients. This is to document new and unusual cases.

Compares the rate or prevalence of a condition in a group of people, such as different geographic locations, different races, or different demographics.

An evaluation of many people at one moment in time. This can show how common a condition is, and maybe identify factors associated with the condition in a more general way.

Comparing a group of people with the condition to another group without the condition. This may identify risk factors or causes for the condition, or just identify strengths or weaknesses in a domain when compared to a different population.

A study where a large group of people are observed over a longer period of time. This can show the progression of the disorder, or the lack thereof. The Angelman Syndrome Natural History Study is this type of study.

Participate in a Study

Angelman Syndrome Natural History Study
Description:
Help improve our understanding of how development, behavior, and communication change in individuals with Angelman syndrome over time.
Location:
Rush University Medical Center (Chicago, IL)
Boston Children’s Hospital (Boston, MA)
Rady Children’s Hospital (San Diego, CA)
Emory University (Atlanta, GA)
Monroe Carell Jr. Children's Hospital at Vanderbilt University (Nashville, TN)
UNC Carolina Institute for Developmental Disabilities (Carrboro, NC)
Children’s Hospital Colorado (Aurora, CO)
Participants:
Individuals with Angelman syndrome of any age. Study requires at least one visit to a study site for an exam and observations. (Virtual visit option also available at this time.)
Contact Information:
Boston Children’s Hospital
617-919-4800
Contact Email:
ASNaturalHistoryStudy@childrens.harvard.edu
Global Angelman Syndrome Registry
Description:
The Global Angelman Syndrome Registry is a project designed to empower individuals diagnosed with Angelman syndrome, their families and those working towards research and treatments. Parents and caregivers can drive data collection by contributing to the largest dataset on Angelman syndrome by entering details of their loved one/s diagnosis, medical history, development, and more in a series of online modules. The Global Angelman Syndrome Registry is a tool for understanding developmental progress, medication, and seizure management, but more importantly, it provides an invaluable resource to advance the search for therapeutics. We ask that you complete the registration and update it annually as a part of moving us toward meaningful treatments.
Location:
Online
Participants:
Individuals with Angelman syndrome of any age.
Learn More (Website):
Learn More (PDF):
Contact Information:
Global Angelman Syndrome Registry
Contact Email:
curator@angelmanregistry.info

Clinical Trials: In these types of studies, investigators test new ways to prevent, detect, or treat a disorder. Treatments might include investigating new drugs (novel or previously approved for other indications), a combination of drugs, new devices, or new approaches to use existing treatments. Clinical trials can also evaluate other aspects of patient care, like techniques to improve symptoms (e.g. specific speech therapy, physical therapy, or behavioral therapy approaches, etc..) or quality of life.

A well designed clinical trial is the gold-standard to prove that any treatment, or new medical approach, actually works.  Clinical trials are usually conducted in different phases. Depending on the disease, the known safety data of a drug or device, or the size of the population, some of these phases might be skipped or combined.

The purpose of a Phase 1 clinical trial is to find out if the new medical approach, drug, or device being tested is safe, well tolerated, to identify any potential side effects (adverse events), and to figure out the appropriate dose and dose frequency so that a larger study can be conducted to truly test the potential efficacy of the drug or device. This is often evaluated in a small number of patients (~20-100), depending on the size of the population and the different variables being tested.

The purpose of a Phase II clinical trial is to start testing whether a new medical approach, drug, or device, actually works to improve the symptoms or quality of life in this population. Side effects and tolerability continue to be carefully monitored, and all of this information goes into designing the larger Phase III clinical trial. This type of trial usually involves a larger number of individuals (~50-300), depending on the size of the population.

The purpose of a Phase III clinical trial is to try and prove whether a new medical approach, drug, or device works, while  continuing to monitor side effects.  The numbers of patients in these trials are usually larger, and this number is determined based on statistics from the useful endpoints evaluated in the Phase I/II trials. A large enough number of patients are needed to statistically show a meaningful change in the domains determined to be important in the disease, and impacted by the drug/intervention. For rare diseases this is often a few hundred (if possible) to even a few thousand individuals.

The purpose of a Phase IV clinical trial is for when a drug or intervention is being marketed to continue to gather information on its effects. Once the drug/device/therapeutic is approved by the FDA, the drug becomes available to the public and more monitoring is necessary to ensure safety in the general population is monitored for. Data about the benefits, best use, or issues related to the treatment are collected and analyzed by the research team

After a clinical trial ends, the researchers carefully review information collected during the study. These results drive the decision to continue or stop the clinical trial. For example, after a Phase I or Phase II study, the researchers may choose to stop the process because the new treatment was unsafe or did not help seem to show benefit to the patient. Alternatively, at this point the trial may move on to a Phase III clinical trial because results from the first two phases were showing some potential promise.

Once a new medical approach, drug, or device is proven safe and effective in a clinical trial, it may become a new standard of medical practice and approved by the regulatory agency to be widely available.

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www.nih.gov

For more information about current clinical trials visit: www.clinicaltrials.gov or www.angelmanclinicaltrials.com

This website does not provide medical advice. The information, including, but not limited to text, graphics, images and any other content contained on this website is for informational purposes only.  Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen and never disregard professional medical advice or delay in seeking it because of something you have read on this website. 

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