Critical Components to Successful Clinical Trials

Quick Overview

Clinical trials are a critical component in the development of new treatments for Angelman Syndrome. These trials go through different phases, starting with small studies to determine the effects of the drug and progressing to larger trials to assess safety and efficacy. Objective outcome measures are essential in these trials to accurately assess the impact of the treatment. It is important for the Angelman Syndrome community to participate in these trials and provide data to support the development of new therapies. Additionally, participating in natural history studies and registering in the Global Angelman Registry can also contribute valuable information for research. Collaboration between stakeholders, including patients, caregivers, researchers, and industry, is crucial for the success of clinical trials.

Clinical trials play a crucial role in the development of new treatments and therapies for medical conditions. In the case of Angelman Syndrome (AS), a rare genetic disorder, clinical trials are essential for finding potential interventions and therapeutics. In this talk, we will discuss the key components of successful clinical trials and what the AS community can do to support and participate in these trials.

The Importance of Clinical Trials

Clinical trials are the bridge between basic research and the development of interventions and therapeutics. They involve different phases, each with its own objectives and requirements. In the first phase, researchers study the effects of a drug on a small group of participants to determine dosing and safety. In the second phase, the focus shifts to evaluating the drug’s efficacy and safety in a larger group. Finally, in the third phase, the drug is tested on a larger population to gather more data on its effectiveness and safety.

The Need for Objective Outcome Measures

One of the critical components of successful clinical trials is the use of objective outcome measures. These measures are tests and assessments that accurately evaluate the function and progress of individuals before and after treatment. For individuals with AS, outcome measures can include tests of motor skills, communication abilities, and overall quality of life. Developing strong and objective outcome measures is crucial for assessing the effectiveness of potential treatments and therapies.

Challenges in AS Clinical Trials

AS presents unique challenges in clinical trials due to the small number of individuals with the condition and the heterogeneity of symptoms. The small population size makes it difficult to achieve statistically significant results, which is why it is essential for the AS community to participate in trials. Additionally, the wide range of symptoms and variations in individuals with AS require careful consideration when designing trials and selecting outcome measures.

How the AS Community Can Support Clinical Trials

Participation in clinical trials is vital for the development of treatments for AS. The AS community can support clinical trials in several ways:

  1. Participate: Individuals with AS and their families should consider participating in clinical trials whenever possible. is a useful resource for finding ongoing trials. Signing up for newsletters from parent organizations and research initiatives like the Angelman Syndrome Biomarkers and Outcome Measures Alliance (ABOM) can also provide information on trials.

  2. Stay Informed: It is crucial to stay informed about clinical trials and the regulatory processes involved. The FDA website provides information on clinical trials and patient rights. Being knowledgeable about the process can help individuals make informed decisions and advocate for their needs.

  3. Document and Share Data: Keeping records of a child’s development and experiences can provide valuable data for researchers. Documenting milestones, treatments, and any changes observed can contribute to the understanding of AS and help researchers design effective trials.

  4. Participate in Natural History Studies: Natural history studies track the progression of a disease over time. Participating in these studies can provide valuable data for researchers and help identify outcome measures that accurately reflect the impact of AS on individuals and their families.

  5. Engage with the AS Community: Joining online communities and support groups can provide opportunities to share experiences, learn from others, and stay updated on the latest research and clinical trials. Engaging with the community can also help individuals feel supported and connected.


Successful clinical trials are essential for finding effective treatments and therapies for Angelman Syndrome. The AS community plays a crucial role in supporting and participating in these trials. By staying informed, participating in trials, and sharing data, individuals and families affected by AS can contribute to the development of interventions that can improve the lives of those with the condition.

Talk details

  • Title: Critical Components to Successful Clinical Trials
  • Author(s): Rebecca Burdine
  • Author(s)’ affiliation: ASF
  • Publication date: 2017-08-14
  • Collection: 2017 ASF Family Conference