Symptoms and General Pathology

All Conditions

Respiratory Tract (Lung and Bronchial) Diseases

Neoplasms

Diseases and Abnormalities at or Before Birth

Rare Diseases

Syndrome

Pneumothorax

Cysts

Birt-Hogg-Dube Syndrome

Pleural Diseases

Respiratory Tract Diseases

Neoplastic Syndromes, Hereditary

Genetic Diseases, Inborn

Primary Spontaneous Pneumothorax

Patients who were treated for spontaneous pneumothorax in Rijnstate hospital. "Interventions": visit to out-patient clinic,CT scan of pulmones.

Patients who were treated for spontaneous pneumothorax in Rijnstate hospital. "Interventions": withdrawal of blood sample for DNA analyses,

A low dose CT scan of the thorax (2mSv) wil be performed once.

CT scan of the thorax

A venous punction in order to withdraw 16ml blood is undertaken once.

blood sample for FLCN mutation analyses

Jincey D. Sriram, MD, MSc

Hans JM Smit, MD,PhD

Hans JM Smit, MD. PhD

Jincey Sriram, MD

Pieter E. Postmus, MD, PhD

Hans JM Smit, MD, PhD

To assess the prevalence of BHD (Birt-Hogg-Dubé syndrome) among patients with spontaneous pneumothorax. Patients who were treated for primary spontaneous pneumothorax in Rijnstate hospital are to be included. Patients will receive a questionnaire. When given consent, the investigators will invite them for a one-time visit to the out-patient clinic. Patients will be asked for a blood sample to determine pathogenic FLCN (folliculin) mutations and a pulmonary CT scan for evaluation of presence of lung cysts.

Based on the results of the pilot study in VUmc \*Free University Medical Center), in which 3 out of 40 tested patients had a pathological FLCN mutation, the investigators decided to extend the study to a second center; Rijnstate Hospital Arnhem. In this hospital a retrospective search was performed; patients who were treated for primary spontaneous pneumothorax were included. In the dossiers the investigators searched for medical history, pneumothorax side and recurrence, diagnostic imaging, treatment, co-morbidity, complications of treatment, skin abnormalities, kidney disease, smoking behavior, medication, and familial incidence of pneumothorax and other diseases. Patients will receive a letter with explanation of the research and a questionnaire in which the investigators ask them their about the medical status, co-morbidity, pneumothorax (number and side), smoking behavior, use of drugs, familial incidence of pneumothorax and other diseases.

The population will be formed out of patients who have returned the fully filled in questionnaire and who have given permission to receive information for further research. This further information will consist of an information letter on BHD syndrome and a consent form for a one-time visit to the out-patient clinic of Rijnstate hospital. Investigators expect that about 200 patients will return the fully filled in questionnaire and give their consent for further research. In a one-time visit in out-patient clinic, there will be given personal information on BHD syndrome and there will be performed physical examination for finding fibrofolliculomas. A pulmonary CT scan for evaluation of presence of lung cysts will be performed. Two samples of venous blood will be collected to access information on DNA diagnostics for pathogenic FLCN mutations. These are associated with the BHD syndrome. This last diagnostic testing will be performed in VUmc (Vrije Universiteit medisch centrum or Free University Medical Centre).

Prevalence of Spontaneous Pneumothorax in BHD

Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With (Hereditary) Spontaneous Pneumothorax

Prof. Dr. Jaap Swieringa stichting

Mr. Willem Bakhuys Roozeboomstichting

Rijnstate Hospital

Hans Smit

MD, PhD

Nutritional and Metabolic Diseases

Gland and Hormone Related Diseases

Digestive System Diseases

Diabetes Mellitus, Type 2

Diabetes Mellitus

Pancreatic Neoplasms

Prediabetic State

Pancreatitis

Pancreatitis, Chronic

Genetic Predisposition to Disease

Glucose Intolerance

Disease Susceptibility

Pancreatic Cyst

Metabolic Diseases

Glucose Metabolism Disorders

Endocrine System Diseases

Pancreatic Diseases

Gastrointestinal Diseases

Gastrointestinal Neoplasms

Digestive System Neoplasms

Endocrine Gland Neoplasms

Chronic Disease

Disease Attributes

Pancreatic Cancer

Chronic Graft Versus Host Disease

All Drugs and Chemicals

Hypoglycemic Agents

Anti-Inflammatory Agents

Antirheumatic Agents

Analgesics

Gastrointestinal Agents

Herbal and Botanical

Hormones

Metformin

Chrysarobin

Pancrelipase

Pancreatin

Anti-Inflammatory Agents, Non-Steroidal

Analgesics, Non-Narcotic

Cola

Must meet one of the following criteria:

1. New onset type 2 diabetes diagnosed within the past 3 years, defined as Hemoglobin A1c ≥ 6.5%\*, fasting blood glucose \>126mg/dL confirmed on a subsequent day or as diagnosed by a physician
2. High-risk pre-diabetes: Hemoglobin A1c \>6.3% or A1c \>6.0% with fasting blood glucose \>110 or 2 hour oral glucose tolerance test between 140-200mg/dL; subjects who have been on metformin \<3 years are eligible

Must meet one of the following criteria:

1. Pancreatic cystic neoplasm for which resection, endoscopic ultrasound or serial imaging has been recommended
2. Chronic pancreatitis as defined by cross-sectional imaging, endoscopic ultrasound, functional testing abnormalities OR as diagnosed by a gastroenterologist

Must meet one of the following criteria:

1. Two or more blood relatives with PDAC (includes 1st-3rd degree relatives as defined in Table 2)
2. One 1st degree relative with PDAC diagnosed before age 60
3. Germline mutation associated with a higher than average risk of PDAC including but not limited to the following: Hereditary breast and ovarian cancer syndromes BRCA1, BRCA2, PALB2 Hereditary nonpolyposis colon cancer (Lynch) syndrome MLH1, MSH2, MSH6, PMS2 Familial adenomatous polyposis (APC) Familial atypical multiple melanoma and mole syndrome CKDN2a, p16 Peutz-Jeghers syndrome STK11 Ataxia-telangiectasia ATM Juvenile polyposis syndromes SMAD4, BMPR1A Li Fraumeni TP53 Cystic fibrosis and unaffected carriers CFTR
4. Personal or family history which meets clinical criteria for a hereditary cancer syndrome and includes a relative with PDAC

The goal of the test is to determine hormone secretion from the pancreas and small intestine in response to the mixed meal.

Mixed Meal Tolerance Test

This test provides the average level of blood glucose over the last 3 months.

Hemoglobin A1c

Other exploratory blood biomarkers including cell free DNA and other markers in development

Other exploratory blood biomarkers

Suzanne M Wessling, RN, BSN

Kelsey A Klute, MD

Identifying biomarkers of early pancreatic ductal adenocarcinoma (PDAC) could facilitate screening for individuals at higher than average risk and expedite the diagnosis in individuals with symptoms and substantially improve an individual's chance of surviving the disease.

The investigators propose a longitudinal study of subjects at higher than average risk of PDAC in order to generate clinical data and bank serial blood specimens.

Patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) have only an 10% chance of surviving 5 years after diagnosis. Most PDAC is advanced and not amenable to curative therapies at the time of diagnosis, owing to lack of symptoms in early disease, nonspecific symptoms when they do develop resulting in a delay in diagnosis. Identifying biomarkers of early PDAC could facilitate screening for individuals at higher than average risk and expedite the diagnosis in individuals with symptoms and substantially improve an individual's chance of surviving the disease.

The investigators propose a longitudinal study of subjects at higher than average risk of PDAC in order to generate clinical data and bank serial blood specimens. Subjects will include individuals with family history of pancreas cancer, individuals with cystic pancreas lesions or chronic pancreatitis, and individuals with new-onset diabetes. Identifying specific biomarkers - blood markers and/or a clinical "prodrome" - in participants who go on to develop PDAC could improve the diagnostic approach outcomes for patients diagnosed with PDAC.

Detection of early PDAC will ideally use clinical and/or biochemical markers of early disease in combination with novel imaging techniques to identify disease much earlier than current modalities. This study will focus on clinical symptoms and blood biomarkers and will allow the study of novel biomarkers in development using banked blood specimens. Identifying individuals with new-onset diabetes and/or diabetes in the setting of chronic pancreatitis, and who have clear evidence of type 3c diabetes may allow for targeted screening of these individuals, with Mixed Meal Tolerance Test, for pancreas cancer in light of the high risk of cancer in these individuals.

Blood may be analyzed for other markers which are currently in development. NOTE: Blood must be collected in Omaha.

Blood Markers of Early Pancreas Cancer

A Longitudinal Cohort Study to Identify Clinical and Blood Markers of Early Pancreas Cancer

The Pancreatic Cancer Detection Consortium (PCDC) includes collaborators at several institutions, including UNMC, working to identify biomarkers and develop novel imaging techniques to identify pre-malignant and subclinical PDAC. One of the primary objectives of the consortium is to establish a repository of serial biospecimens collected from subjects prior to their diagnosis of PDAC. These specimens will be readily available when biomarkers in development are ready for validation. Due to the low incidence of pancreas cancer, even in groups at substantially increased risk, obtaining enough specimens to use for biomarker identification from those subjects who go on to develop PDAC requires collaborative effort between multiple institutions. This proposal is the contribution from UNMC to the consortium's biorepository effort.

Number of pancreas cancer cases diagnosed.

Biomarkers which may predict early pancreas cancer.

Result of MMTT which may indicate type 3c diabetes, which may be a risk factor

National Cancer Institute (NCI)

Virginia Mason Hospital/Medical Center

VA Nebraska Western Iowa Health Care System

University of Nebraska

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Prevalence of Spontaneous Pneumothorax in BHD	NCT02916992	Spontaneous Pne...	CT scan of the ... blood sample fo...	18 Years -	Free University Medical Center
Blood Markers of Early Pancreas Cancer	NCT03568630	Diabetes Mellit... PreDiabetes Pancreas Cyst Chronic Pancrea... Genetic Predisp... Inherited Disea...	Mixed Meal Tole... Hemoglobin A1c Other explorato...	19 Years -	University of Nebraska
Blood Markers of Early Pancreas Cancer	NCT03568630	Diabetes Mellit... PreDiabetes Pancreas Cyst Chronic Pancrea... Genetic Predisp... Inherited Disea...	Mixed Meal Tole... Hemoglobin A1c Other explorato...	19 Years -	University of Nebraska

Spots Global Cancer Trial Database for inherited disease