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Protocol Details

The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

94-HG-0132

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 0
Max Age: 100

Referral Letter Required

No

Population Exclusion(s)

Pregnant Women and Fetuses

Special Instructions

Please send genetic summary pictures of affected body parts and immaging studies to Joyce Turner.

Keywords

Sporadic;
Mosaic;
Growth Disorder;
Progressive;
Multiple Abnormalities

Recruitment Keyword(s)

None

Condition(s)

Proteus Syndrome;
PIK3CA Related Overgrowth Spectrum

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research InstituteChildren's National Medical CenterUSUHS

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 and their parents may be eligible for this study. Parents will be studied, when possible, for comparison of molecular findings. 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 will have will be interviewed or complete questionnaires, or both, about how their disease affects them. (Parents will be asked about their feelings about having a child with a rare disorder.) Patients will provide a small blood sample for research and may be asked to undergo biopsies from a normal area of skin and from a tumor.

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Eligibility

INCLUSION CRITERIA:

All patients who meet clinical diagnostic criteria for PS, or who have demonstrated AKT1 p.Glu17Lys mutations as well as their biological parents, are considered eligible for this protocol. As well, we will generally offer an in-person evaluation at the NIHCC to patients with PS whenever possible.

Patients with overgrowth that is not definitively PS (i.e., who do not appear to meet clinical diagnostic criteria) and their biological parents may also be eligible to participate in this study. Decisions to invite patients in this group to the NIHCC for an in-person evaluation are made on a case-by-case basis where the patient s phenotype, health, proximity to the NIH, and fit with our current research aims will all be taken into account. In general, we will consider subjects who have one or more of the manifestations from the PS clinical criteria as eligible.

There are no exclusions for race, age, or gender for participants.

EXCLUSION CRITERIA:

Patients with cancer but who do not have overgrowth or other non-tumor manifestations of PS or non-PS overgrowth, whose tumors may harbor AKT1, PIK3CA, or other mutations, are not eligible for this study. In general, patients who clearly meet diagnostic criteria for a well-characterized overgrowth syndrome that is NOT PS are not eligible for this study. Bannayan-Riley-Ruvalcaba syndrome and PHACES syndrome are examples of such entities. We have no plans to enroll prisoners, fetuses, pregnant women, healthy volunteers, or lab personnel. Some persons with PS and other overgrowth conditions are intellectually disabled (ID) or developmentally delayed (probably ~10%). The consent issues are no different for children with ID than developmentally appropriate children except that assent will be judged by developmental level instead of age. Probands who are adults and decisionally-impaired are eligible only if they have a legal guardian who has authority to sign a consent form on their behalf. Patients who are medically fragile or unable to tolerate travel to the NIHCC will not routinely be eligible for participation.

Since we enroll people of all ages, some of the women we enroll may become pregnant during the course of the study. No imaging studies will be done on women if they are known to be pregnant. No surgical procedures will be undertaken on pregnant women, and we will screen all women of reproductive age with a pregnancy test prior to surgery, as per standard surgical practice.

We will request permission to retain some information about prospective participants who may not be immediately enrolled. As these participants will not immediately be signing a consent form and joining the study, we propose to NOT count these participants in our Inclusion Enrollment Reports until they have formally enrolled in the study (that is, they have signed consent forms).


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Leslie G. Biesecker, M.D.
National Human Genome Research Institute (NHGRI)
BG 50 RM 5140
50 SOUTH DR
BETHESDA MD 20814
(301) 402-2041
lesb@mail.nih.gov

Julie Sapp
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 10
Room 3C710
10 Center Drive
Bethesda, Maryland 20892
(301) 435-2832
sappj@mail.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00001403

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