Symptoms and General Pathology

All Conditions

Neoplasms

Heart and Blood Diseases

Blood and Lymph Conditions

Immune System Diseases

Rare Diseases

Recurrence

Multiple Myeloma

Neoplasms, Plasma Cell

Genetic Predisposition to Disease

Disease Susceptibility

Neoplasms by Histologic Type

Hemostatic Disorders

Blood Coagulation Disorders

Vascular Diseases

Paraproteinemias

Blood Protein Disorders

Hematologic Diseases

Hemorrhagic Disorders

Lymphoproliferative Disorders

Immunoproliferative Disorders

This study will involve a single patient group, namely patients with a diagnosis of multiple myeloma diagnosed by a bone marrow aspirate with cytological analysis of the bone marrow smear.Bone marrow samples obtained during the routine follow-up will undergo plasmocyte enrichment using immunopurification using CD138+ beads and nucleic acids will be extracted for sequencing.

The aim of this study is to perform DNA sequencing on abnormal plasmocytes obtained from patients with multiple myeloma, in order to identify alterations which are associated with the existence of this disease. DNA analyses will be performed in a single experiment once all samples have been collected.

DNA sequencing

Charles DUMONTET, Pr

There is a growing body of data suggesting that the the risk of developing multiple myeloma, or myelomagenesis, is associated with genetic alterations occurring in the tumor cells. A limited number of candidate genes and polymorphisms have been reported in patients with this disease. In this study the investigators will compare the genetic information obtained on purified abnormal plasmocytes obtained from patients with multiple myeloma with available public databases in an effort to identify and if possible validate the role of certain mutations and/or polymorphisms in myelomagenesis. Plasmocytes will be obtained by immunomagnetic enrichment using CD138+ beads.

DNA analyses will be performed on purified abnormal plasmocytes, obtained from bone marrow aspirates performed during the standard follow-up of patients with multiple myeloma.

The Aim is to Identify Recurrent Genomic Mutations and/or Predisposing Polymorphisms in Patients With Sporadic Cases of Multiple Myeloma

Analysis of Genomic Alterations in Sporadic Cases of Multiple Myeloma

DNA data acquired in myeloma patient samples will be compared to those of healthy subjects using publically available databases.

Hospices Civils de Lyon

Diseases and Abnormalities at or Before Birth

Infections

Musculoskeletal Diseases

Syndrome

Congenital Abnormalities

Growth Disorders

Abnormalities, Multiple

Proteus Infections

Proteus Syndrome

Communicable Diseases

Enterobacteriaceae Infections

Bacterial Infections

Gram-Negative Bacterial Infections

Mycoses

Bacterial Infections and Mycoses

Hamartoma Syndrome, Multiple

Hamartoma

Neoplasms, Multiple Primary

Bone Diseases

Bone Diseases, Developmental

Limb Deformities, Congenital

Musculoskeletal Abnormalities

PIK3CA-related Overgrowth Spectrum

Patients with Proteus syndrome (PS) and other overgrowth disorders hypothesized to be in the AKT/PI3K pathway

Julie Sapp

Leslie G Biesecker, M.D.

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.

...

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 PI3K/AKT 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 PS/AKT1 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 PI3K/AKT pathway) and possibly exome and whole genome sequencing, performed as part of protocol 10-HG-0065.

Study of Proteus Syndrome and Related Congenital Disorders

The Phenotype and Etiology of Proteus Syndrome

Determine causative genotypes of overgrowth disorders

Determine natural history of a variety of overgrowth disorders

Children's National Research Institute

Uniformed Services University of the Health Sciences

National Human Genome Research Institute (NHGRI)

Mouth and Tooth Diseases

Ear, Nose, and Throat Diseases

Nasopharyngeal Carcinoma

Carcinoma

Neoplasms, Glandular and Epithelial

Nasopharyngeal Neoplasms

Pharyngeal Neoplasms

Otorhinolaryngologic Neoplasms

Head and Neck Neoplasms

Nasopharyngeal Diseases

Pharyngeal Diseases

Stomatognathic Diseases

Otorhinolaryngologic Diseases

Anti-Infective Agents

All Drugs and Chemicals

Anti-Bacterial Agents

Antibiotics, Antitubercular

The patients (1) were diagnosed with NPC; 2)18\< Age \<75.

(1) 18\< Age \<75, and Han Chinese residents living in Hunan more than 3 years. (2) Health examination population who physical examination, assistant examination and serological examination were normal; None of the patients had rhinitis or used any antibiotics during the three months last 3 months.

This study investigated the correlation between the changes in the intestinal flora and NPC by an examination of the intestinal flora and multiple clinical indicators of the blood of 8 carefully screened patients of familial NPC, 24 patients of sporadic NPC and 27 healthy controls and a comparison of the differences in their intestinal flora structures and biological functions. By analyzing the function of the intestinal floras of NPC patients, we aimed to provide a better biological marker for patients with familial and sporadic NPC and constructed a disease prediction model for high-risk populations.

Nasopharyngeal carcinoma (NPC) is a malignant nasopharyngeal disease with a complicated etiology that occurs mostly in southern China. Intestinal flora imbalance is believed to be associated with a variety of organ malignancies. Currently, the relationship between intestinal flora and NPC is not clear, although many studies have shown that intestinal flora can be used as a biomarker for many cancers and to predict cancer.

To compare the differences in intestinal flora compositions and biological functions among patients with familial NPC (NPC_F), patients with sporadic NPC (NPC_S) and healthy controls (NOR), we compared the intestinal flora DNA sequencing and hematological testing results between every two groups using bioinformatic methods.

The faeces and the sera of the recruited participants

Intestinal Flora Sequencing for Nasopharyngeal Carcinoma

Intestinal Flora Disruption and a Novel Intestinal Biomarker Associated With Nasopharyngeal Carcinoma

NPC patients with a first degree NPC family history

NPC patients without any tumor family history

The Third Xiangya Hospital of Central South University

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
The Aim is to Identify Recurrent Genomic Mutations and/or Predisposing Polymorphisms in Patients With Sporadic Cases of Multiple Myeloma	NCT05331313	Multiple Myelom...	DNA sequencing	18 Years -	Hospices Civils de Lyon
Study of Proteus Syndrome and Related Congenital Disorders	NCT00001403	Proteus Syndrom... PIK3CA Related ...		1 Month - 99 Years	National Institutes of Health Clinical Center (CC)
Intestinal Flora Sequencing for Nasopharyngeal Carcinoma	NCT04094545	Nasopharyngeal ...		18 Years - 75 Years	The Third Xiangya Hospital of Central South University
Study of Proteus Syndrome and Related Congenital Disorders	NCT00001403	Proteus Syndrom... PIK3CA Related ...		1 Month - 99 Years	National Institutes of Health Clinical Center (CC)

Spots Global Cancer Trial Database for sporadic

Every month we try and update this database with for sporadic cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for sporadic

Every month we try and update this database with for sporadic cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for sporadic cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.