Genetic Mapping Studies of Adolescent Idiopathic Scoliosis

March 12, 2007

Institutional Review Board, Hospital for Special Surgery

The safety of our participants is our top priority. The trial/study is approved and periodically reviewed by the Institutional Review Board (IRB), which includes doctors, administrators, ethicists, and members of the general public. The safety of clinical trials is reviewed by the U.S. Food and Drug Administration.

Before enrolling in a clinical trial or research study, the investigator will explain the purpose of the trial/study, its expected benefits, any possible risks or side effects, and what your role will be. If you want to join the trial/study, you must sign informed consent documents. You can leave a trial/study at any time without penalty.

For further information, see Understanding Clinical Trials/Research Studies.

Principal Investigator

Cathleen L. Raggio, MD

Co-Investigators

Oheneba Boachie-Adjei, MD
Philip F. Giampietro, MD
Matthew Cunningham, MD
Robert Blank, MD
Tom Ross, RN

Summary

The purpose of this study is to better understand the genetic causes of Adolescent Idiopathic Scoliosis (AIS).  We anticipate that recruitment of approximately 700 patients. 500 of those will take place at the Hospital for Special Surgery, University of Wisconsin, Madison and other participating centers, and approximately 200 patients and their respective parents will be recruited from the Marshfield Clinic.  Your participation will involve a total of 1 visit that will last approximately 30 minutes.

Inclusion/Exclusion Criteria

Inclusion Criteria:
The eligibility requirement for family trio enrollment is to have one affected child/adult with AIS and two parents (status with respect to AIS is not relevant for inclusion/exclusion). In addition, there must be a positive family history of AIS in the patient’s parents, sibling, grandparents, aunt or uncle.  A trio will be considered positive for family history of AIS based on the description of an affected family member with a scoliotic curve, treatment with bracing and/or clinical description of shoulder asymmetry. AIS occurs in all racial and ethnic groups. Individuals of all races and nationalities with AIS will be invited to participate.

Exclusion Criteria:

• The presence of an underlying condition associated with AIS such as Marfan syndrome, Ehlers-Danlos syndrome, muscular dystrophy, etc....
• Unavailability of a biological parent of the affected child for trio analysis. A family trio is defined as an affected child who developed scoliosis and both parents. The parents don’t have to have scoliosis to be considered a trio.
• Discovery on non-paternity on genetic analysis of a particular family trio.
  
  

Contact Information

Cathleen L. Raggio, MD – Principal Investigator
212.606.1339
raggioc@hss.edu.

Tom Ross, RN – Research Coordinator
212.606.1723
rosst@hss.edu