In March of 2013, the Tampa 24, wrapped up their final visits to Tampa General Hospital for the human clinical trial to test the efficacy of minocycline in treating symptoms of Angelman Syndrome (AS). The “Tampa 24” is the name penned by the Angelman community for the 24 children randomly chosen to participate in the clinical trial. Since that time, members of the Tampa 24, board members of the Foundation for Angelman Syndrome Therapeutics (FAST), and the team at University of South Florida have all been asked about the results of the minocycline clinical trial.
It may feel as if it has been a long time since we started this journey, but we should try to put this into perspective. First, we, the community, raised enough funding for FAST to support the initial studies conducted by Dr. Edwin Weeber, testing four compounds in the AS mouse model for potential therapeutic benefit. Those studies were initiated in January 2011, and minocycline was quickly identified as having great potential. Two weeks of treatment with minocycline restored motor function and cognition in the AS mice.
In the summer of 2011, we voted our hearts out to win the Vivint Gives Back Contest, which allowed FAST to fund a small human clinical trial to test the efficacy of minocycline in 24 individuals, aged 4 to 12. Dr. Weeber’s clinical trial commenced in February of 2012 with the first 12 participants visiting three times over sixteen weeks. Two participants were seen per week in the trial. Once the first 12 were through the trial, the second set of participants began the trial in the Fall of 2012. Those visits ended in March of 2013.
Bringing a scientific finding from the bench to a human clinical trial in one year is practically unheard of. There are few rare disease groups that have worked this hard to make the possibilities of science a reality for our children. That being said, we are now sailing in uncharted waters of bringing potential treatments for AS into medical practice.
As we eagerly await the official result of the minocycline trial, FAST is committed to sharing all available information that affects our community as soon as we are able to do so. In our journey through these unchartered waters, we at FAST have consulted with clinicians and officials at the National Institutes of Health. We were advised that asking Dr. Weeber to release specific results from the trial, prior to its submission for publication, would not be in the community’s best interest as the work has not had a chance to be peer-reviewed and assessed by experts in relevant fields. This is essentially a quality control step to ensure the data is being interpreted accurately and fairly. Additionally, releasing results before they have been properly evaluated and peer-reviewed could damage any attempts to expand or start new clinical trials for this or other potential therapeutics for AS.
This means we will all have to wait a little while longer to have the specific results from the trial. Dr. Weeber has previously mentioned that preliminary results suggest that minocycline treatment improved behavior, attention and communication in children with AS; however, Dr. Weeber also emphasized that the data was preliminary and that any conclusions about minocycline as an effective therapeutic would have to wait for the conclusion of the clinical trial. Now that the patient portion of the trial has concluded, Dr. Weeber and the team at the University of South Florida are analyzing all of the data to determine what the results of the trial are and to see if any of the findings are statistically significant. The results will then be submitted to a journal for peer-review and publication. Dr. Weeber has stated that he hopes to submit his article for publication by the fall of this year. Given the standard turnaround time for peer-review, the earliest we might hope to see the results “in press” would be this winter. Once the article is in press, we will be able to bring the specific findings to the community.
If the results remain positive, it will be imperative to conduct larger, placebo controlled trials to legitimize the use of minocycline in individuals with AS. These trials are critical to obtaining approval by the FDA for labeling minocycline for this purpose. And, if we have an FDA approved treatment for at least some of the symptoms of AS, it would help us push to have AS added to the newborn screen for genetic disorders. – very exciting!
Various groups, both in the United States and abroad, that are in a position to conduct larger clinical trials in the AS population, are currently organizing and applying for funding to support the larger trials if they are warranted. Dr. Wen-Hann Tan has applied to several sources for funds to conduct a trial of minocycline through the RDCRN for teenagers and young adults. Other groups are trying to arrange trials to extend the current findings within a similar age range to the Tampa trial.
Once the minocycline clinical trial results are available, and if the results are positive, the AS community will be called upon to help support these trials. As such, recruitment for larger clinical trials would hopefully begin soon thereafter. What does this mean for our Angelman community? Qualified candidates will be needed to participate in trials if we want FDA approved treatments for AS.
As Helen Keller once said, “No pessimist ever discovered the secret of the stars, or sailed to an uncharted land, or opened a new doorway for the human spirit.”
We are sailing to that uncharted land and are very optimistic that we are on the right course.
To that end, FAST is committed to raising the funds necessary to find potential therapeutics and ultimately, a cure for AS. We need to have the funds on-hand to support new clinical trials when they are ready to go so the community doesn’t have to wait any longer than necessary for these opportunities.
We are happy to announce that the Fast Integrated Research Environment (FIRE) initiative is underway and the four inaugural researchers involved are already examining new compounds for their therapeutic potential. FAST expects more clinical trials will be developing as the FIRE researchers continue their studies.
As always, we will bring you updates on the FIRE projects and on the clinical trial as soon as we are able to do so. Your continued support is the fuel that is driving us toward a cure; we are raising hope through research and changing lives together.