Viewing Study NCT00001403



Ignite Creation Date: 2024-05-05 @ 11:19 AM
Last Modification Date: 2024-10-26 @ 9:02 AM
Study NCT ID: NCT00001403
Status: RECRUITING
Last Update Posted: 2024-07-01
First Post: 1999-11-03

Brief Title: Study of Proteus Syndrome and Related Congenital Disorders
Sponsor: National Human Genome Research Institute NHGRI
Organization: National Institutes of Health Clinical Center CC

Study Overview

Official Title: The Phenotype and Etiology of Proteus Syndrome
Status: RECRUITING
Status Verified Date: 2024-09-26
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
Brief Summary: 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

Detailed Description: The purpose of this project is to specifically delineate the phenotype and natural history and genetic etiology of Proteus syndrome PS and other overgrowth disorders hypothesized to be in the PI3KAKT pathway As we have recently determined the molecular cause of PS and the related disorder of fibroadipose overgrowth our main objectives moving forward include genotype-phenotype correlations identifying quantifiable phenotypic characteristics in patients and measuring changes in these characteristics over time developing potential biomarkers for future therapeutic research and using our new molecular insights to expand our understanding of both PS and related overgrowth disorders The natural history and specific phenotypic characteristics of patients with PS and selected other overgrowth disorders will be determined by clinical assessment and longitudinal follow-up of patients which includes patients who have been exposed to therapeutic agents such as an AKT inhibitor Subjects will be screened for eligibility using published diagnostic criteria for PS screening for AKT1 and other pathway gene mutations may be used in patients with overlapping phenotypes The discovery of the AKT1 activating mutation in patients with this disease provides an attractive target for directed treatment for this devastating disorder This protocol aims to aid in identifying individuals with molecularly-confirmed AKT1 mutations who may be candidates for pharmacologic interventional studies We also propose to expand our clinical ascertainment to determine the full range of PSAKT1 activating mutation phenotypes and to study other overlapping conditions The etiology of these disorders will be studied using candidate gene analysis primarily based on the PI3KAKT pathway and possibly exome and whole genome sequencing performed as part of protocol 10-HG-0065

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None
Secondary IDs
Secondary ID Type Domain Link
94-HG-0132 None None None