Vascular Malformations and Abnormalities of Growth

To take part in this study you/your child have a vascular malformation, a type of blood vessel disorder whose cause is unknown.

The investigators will do this by looking at changes in the genes and proteins in the cells of the malformation as well as normal cells.

The investigators are doing this research because currently there is no known cause of vascular malformations and no way to know whether or not other health problems will occur in addition to the malformation. Through this research we hope to create standard methods for doctors to examine and treat people with vascular anomalies.

Study Overview

• Status: Completed
• Conditions: Abnormality
• Intervention / Treatment: Procedure: skin biopsy

Detailed Description

If you/your child agree to participate

1. Informed consent and permission to use or disclose you/your child's health information for reserve purposes will be obtained by the research team. You will receive a copy of the consent form.
2. You/your child will be examined by a physician from the research team and interviewed about your medical background and condition every year for five years.
3. You/your child will have photographs taken of the affected area at each visit.
4. You/your child will have two, one time biopsies or skin samples taken by a dermatologist. Skin areas will be numbed with lidocaine and a 4 or 5 millimeter (or approximately 0.15 to 0.19 inch) sample will be taken in two different locations. The dermatologist taking the skin sample will use every effort to choose an area that can be covered by clothing or kept out of sight to others. The doctor will either use gelfoam or one stitch/suture per biopsy to seal off the area, which helps with healing and preventing bleeding. If a stitch is placed in the biopsy site, another visit about 7-10 days following the procedure will be necessary to remove the stitch.

5. You may still participate in the study if you consent to having only one biopsy taken of your affected (lesion) skin and not one of your unaffected (normal) skin.

• Study Type: Interventional
• Enrollment (Anticipated): 50
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Wisconsin
    • Milwaukee, Wisconsin, United States, 53226
      • Childrens Hospital of Wisconsin

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Greater than 1 year of age
• Diagnosis of vascular malformation
• Each patient's authorized legal guardian must understand the nature of the study and must provide written informed consent. Each patient must also give assent to study participation given they have the cognitive capacity to do so.

Exclusion Criteria:

• Patients less than 1 year of age
• Vascular malformations likely to result in poor wound healing or located in areas of the body prone to significant scarring
• Individuals with vascular malformations and previous diagnosis of disseminated intravascular coagulopathy

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: single group single arm study; Open no masking is used. All involved know the identity of the intervention assignment	Procedure: skin biopsy; Two skin biopsies will be taken one time

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Percent of growth over time	5 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Patient specific gene and protein expression levels that can distinguish affected from unaffected tissue in patients.	5 years

Collaborators and Investigators

• Sponsor: Medical College of Wisconsin
• Collaborators: Children's National Research Institute
• Investigators: Principal Investigator: Kelly Duffy, MD, Children's Hospital and Health System Foundation, Wisconsin

Study record dates

Study Major Dates

• Study Start: November 1, 2008
• Primary Completion (Actual): December 1, 2013
• Study Completion (Actual): December 1, 2013

Study Registration Dates

• First Submitted: April 15, 2010
• First Submitted That Met QC Criteria: April 15, 2010
• First Posted (Estimate): April 16, 2010

Study Record Updates

• Last Update Posted (Estimate): January 7, 2014
• Last Update Submitted That Met QC Criteria: January 6, 2014
• Last Verified: January 1, 2014

More Information

Terms related to this study

• Keywords: vascular malformation; vascular anomalies; abnormalities of growth; overgrowth; subjects with vascular malformations abnormalities of growth.
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Cardiovascular Abnormalities; Congenital Abnormalities; Vascular Malformations
• Other Study ID Numbers: CHW 08/204, GC 821