RECRUITING

Study of Proteus Syndrome and Related Congenital Disorders

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, the changes in symptoms over time, and the effects of the disease on patients. Patients with Proteus syndrome may be eligible for this study. Study candidates will have a medical history and physical examination, including X-rays and possibly other imaging tests, such as computerized tomography (CT), magnetic resonance imaging (MRI) and ultrasound. Other tests and examinations may be done if needed. Those enrolled in the study may be interviewed or complete questionnaires, or both, about how their disease affects them. Patients will provide a small blood sample for research.

Official Title

The Phenotype and Etiology of Proteus Syndrome

Quick Facts

Study Start:1994-04-27
Study Completion:N/A
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT00001403

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Month to 99 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. Age 18 years or older
  2. Willing and able to provide informed consent
  3. Able to understand and follow study procedures
  4. Stable medical condition
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Julie C Sapp
CONTACT
(301) 435-2832
sappj@mail.nih.gov
Leslie G Biesecker, M.D.
CONTACT
(301) 402-2041
lesb@mail.nih.gov

Principal Investigator

Leslie G Biesecker, M.D.
PRINCIPAL_INVESTIGATOR
National Human Genome Research Institute (NHGRI)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Human Genome Research Institute (NHGRI)

  • Leslie G Biesecker, M.D., PRINCIPAL_INVESTIGATOR, National Human Genome Research Institute (NHGRI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date1994-04-27
Study Completion DateN/A

Study Record Updates

Study Start Date1994-04-27
Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

  • Sporadic
  • Mosaic
  • Growth Disorder
  • Progressive
  • Multiple Abnormalities
  • Natural History

Additional Relevant MeSH Terms

  • Proteus Syndrome
  • PIK3CA Related Overgrowth Spectrum