Genetics of Tuberous Sclerosis Complex and Related Neurodevelopmental Disorders

The Tuberous Sclerosis Complex (TSC) is an autosomal dominant and occurs due to mutations in TSC1 or TSC2 genes in 80-90% of the patients. TSC is a multi-system disease, it usually presents with seizures, mental retardation and autism, and exhibits a high variability in clinical findings both among and within families.

Investigators at Children’s Hospital Boston are doing research in order to identify genomic abnormalities in patients with TSC outside of the TSC1 and TSC2 genes that may contribute to the neurological manifestations and thus explain the large spectrum of neurological outcome seen in families with TSC.

We hope that will lead to a better understanding of TSC and to new forms of diagnosis and treatment, to benefit children and adults with TSC in the future.

 

Who is eligible to participate?

Any individual with TSC and his or her family members seen at Children’s Hospital Boston are eligible to participate. If there is only one family member affected we would like to also enroll his or her parents.  If more than one family member affected by the disorder, we would like to enroll other relatives as well.

 

Participation

Participation in this study entails a one-time visit, which can be combined with your/your child’s regular clinic visit to the Children’s Hospital Boston or can be arranged at an independent time.

 

What will we do?

If you agree to participate we will obtain your informed consent.

We will obtain the medical information from you, your medical record and physicians.  In some cases, we may ask permission to take pictures and video recordings of you or your family members.

We will obtain saliva, blood (about 1-6 teaspoons), and/or a urine sample from each participant to be used for genetic and protein studies. We will also ask for access to any discarded tissue or fluid samples obtained from future procedures that may take place.

All data and samples will be coded and stored in secure databases and freezers.

 

Cost/time commitment

Enrollment will take approximately 1 hour.  There is no fee to participate in this study, and there will be no financial compensation for your participation in this study.

 

Results

In this study, we are comparing the genetic changes and medical information from different participants and their families to determine which genetic factors may play a role in the broad spectrum of clinical characteristics seen in patients and families with TSC. 

This is a research study, individual results will not be reported to families since they will be conducted in a research laboratory; therefore, we cannot directly released results to participants. However, families are encouraged to call or e-mail us at any time to ask about the overall progress of this research.  If desired, we would also notify participants if relevant genetic testing becomes available

 

Confidentiality

Medical information and results obtained from this study are confidential and are not placed in the medical records of the participants.

Medical information and samples will be accessible only by the study staff and approved researchers.  Only at the participant’s request would we make this information available to others.