In Search of the Genetic Origins of TS

The Tourette Syndrome Association International Consortium for Genetics (TSAICG) is working together with the National Institutes of Health (NIH) to find the genes involved in the development of TS.

Over 1,900 people with TS have joined the study, so far, but researchers are still looking for another 300 participants.

If you or a family member is interested, please consider the following information.

The study is seeking adults (ages 18 and older) and youth (ages 6 to 17) who have a diagnosis of TS from a doctor.

To begin the study, adults with TS will fill out a questionnaire about their tics and related symptoms. For youth with TS, a parent will be required to fill out the questionnaire for (or with) their child. The questionnaire can be completed online or over the phone. To start the questionnaire, please visit this website. The questionnaire takes about 20 minutes to complete online.

Answers to the questionnaire will be reviewed by the research team to determine if each participant with TS qualifies for the second part of the study, which involves giving a blood sample used for genetic analysis. Only one eligible family member with a TS diagnosis can provide a blood sample. Individuals with TS can participate in this study only one time. Some participants will also be selected to take part in a longer, optional interview.

To learn more about the study, visit this site or call: 1-877-883-9350 (1-TS STUDY E 50) on the East Coast, and 1-877-883-9950 (1-TS STUDY W 50) on the West Coast.


Research Opportunities

Two TS-related studies are being conducted by doctors at the Washington University School of Medicine.

Dr. Kevin Black is conducting a study with children between the ages of five and 17 who are experiencing a recent (past six months) onset of “tics” — repetitive, involuntary sounds or movements such as eye blinking, sniffing, abdominal tensing, or making small noises.

    The purpose of this study is to compare children who go on to develop Tourette Syndrome (TS) with those who do not. It is the same study as the one Dr. Black initiated last year, with two changes: The study previously considered children ages five to 14 (now five to 17) and defined “recent onset” as occurring in the past three months (now six months).

    Requirements include four visits over approximately 12 months, questionnaires, assessments, interviews, genetic testing (saliva sample), and MRI scan. Compensation is available.

In the second study, Dr. Black teams with Dr. Bradley Schlaggar to look at the way the brain works in people with Tourette Syndrome using brain imaging.

    This study is limited to children eight to 17 years of age who have Tourette Syndrome (chronic motor and/or vocal tics) and are able to safely have an MRI (e.g., no metal implants or braces).

    Requirements include a screening visit lasting up to 6 hours and an MRI visit lasting about 2 hours. Volunteers will be compensated for their time and effort: $50 for the screening visit and $25 for the MRI scanning.

Parental permission is required for both studies. For more information, contact the studies coordinator, Mary, at 314-362-7651.

TSA, Psyadon to Collaborate on Drug Trial

The national Tourette Syndrome Association (TSA) and Psyadon Pharmaceuticals have announced a clinical-trial collaboration to determine the potential efficacy of a novel drug, ecopipam, for managing the symptoms of Tourette Syndrome (TS).

“This is the first time in our 39-year history that TSA has collaborated with the pharmaceutical industry and helped to fund a clinical drug trial for the potential treatment of TS. It marks the beginning of a new phase in our efforts to facilitate the development of effective and safe medications that are urgently needed for people with TS,” said Judit Ungar, TSA President.

The TSA will also assist with recruitment for the clinical trial.

The FDA granted ecopipam an orphan-drug designation for the treatment of TS in September 2010. Richard Chipkin, President and CEO of Psyadon, said: “We are honored to be selected as the first company the TSA has collaborated with on a clinical drug study. Experiments in animals suggest that ecopipam, which belongs to a class of agents referred to as dopamine D1 antagonists, interacts with nerve cells and systems in the brain that are thought to contribute to the development of tics and other symptoms in TS. Based on these studies, there is a good rationale and a logical basis for examining this drug’s efficacy in reducing tic severity in individuals with TS.”

The clinical trial, which has already begun, is a Phase 2a, open-label, non-randomized trial to examine the ability of ecopipam to both reduce tic severity and also to determine its safety in individuals with TS who are 18 to 65 years old. The study, which is being conducted at four sites across the U.S. by leading experts in TS, is expected to last for several months. More information is available here.

Psyadon and TSA anticipate the data from this clinical trial will be released by mid-2012.

New Medical Presentation Highlights

At the November 12, 2010, Tourette Syndrome Association (TSA) Annual Meeting in New York, Dr. Cathy Budman and Dr. Andrew Feigin made presentations on several topics, including an overview of Tourette Syndrome and tic disorders, an update on TS neuroimaging, and summaries of TSA research programs. A video of their presentations is now available at the TSA’s national website.

Research Opportunity for Interested Participants

Dr. Kevin Black (Washington University, St. Louis) is conducting a study with children between the ages of five and 14 who are experiencing a recent (past three months) onset of “tics” — repetitive, involuntary sounds or movements such as eye blinking, sniffing, abdominal tensing or making small noises.

The purpose of the research is to compare children who go on to develop Tourette Syndrome (TS) with those who do not.

Participants are required to make four visits over approximately 12 months. Compensation is available.

For more information, including whom to contact if you’re interested in participating, please visit this site.

Discovery of Rare Genetic Mutation Associated with TS

While the underlying cause in the majority of Tourette Syndrome cases remains elusive, there is compelling evidence that, in many families with a history of the disorder, the inheritance of certain genes could cause or contribute to the development of the condition.

Dr. Matthew State and colleagues at the Yale School of Medicine have published a research study in The New England Journal of Medicine, in which they discuss a defect in a gene called L-histidine decarboxylase or HDC. The researchers believe this defect is responsible for the development of TS in two generations of a particular family: a father and eight of his children. However, this gene defect was not found in hundreds of other families with TS, whose DNA was analyzed in the same study. Accordingly, it appears the HDC gene defect is a rare cause of TS.

Regardless, the discovery by Dr. State and colleagues could be a key development in our understanding of the brain changes that occur in TS patients. HDC is important for the production of histamine, which is well known for its role in allergies, but it is also present in the brain, where it is involved in communication between nerve cells. The HDC gene defect in the family with TS appears to interfere with the production and levels of histamine in certain parts of the brain. This finding raises the possibility that drugs that can alter the histamine systems in the brain might have a therapeutic benefit for TS. Thus, the study published by Dr. State and his colleagues could open new avenues of research and discovery.

The National TSA was instrumental in referring the noted family to Dr. State’s group. In addition to the Yale study authors, two members of the TSA’s International Consortium for Genetics (David Pauls, Ph.D., and Harvey Singer, M.D.) and a member of the TSA’s Medical Advisory Board (Donald Gilbert, M.D.) participated in the study.

We encourage all members of the TS community to assist researchers in their efforts to better understand and develop therapies for TS.

(Also reference this related WSJ report from earlier this month. A subscription may be required to read the entire article.)

Study to Explore Association Between Tics, Urges

Faculty at the Cincinnati Children’s Hospital Medical Center are conducting an Internet-based survey designed to explore the association between tics in children and the presence or absence of an urge right before the tic.

This research study has been reviewed and approved by TSA’s National Medical Advisory Board.

A parent and child (7 to 17 years old) should work together on the survey, to come up with the best answer to each question. The survey should take around half an hour to complete.

To complete the survey, check here and follow the instructions.