Urinary Tract, Sexual Organs, and Pregnancy Conditions

All Conditions

Neoplasms

Diseases and Abnormalities at or Before Birth

Infertility

Neoplasms, Second Primary

Genetic Diseases, Inborn

Genital Diseases

Urogenital Diseases

No intervention ; observational

Renske Fles, Phd

Renske Fles

Olga Husson, Phd

Winette van de Graaf, Prof

Rationale: Childhood cancer survivorship attracts attention globally, because successes in treatment have led to increasing number of survivors who reach adulthood, in which survivorship issues affecting health-related quality of life (HRQoL) become prominent. Most paediatric patients are treated intensively with irradiation and/or chemotherapy, which put them at risk for early and/or late adverse medical and psychosocial events. In contrast, much less is known about adolescent and young adult (AYA) cancer patients, diagnosed between 18-39 years, who, with an 80% chance to survive, also have a long life ahead. AYA cancer patients, much more than children, suffer from delay in diagnosis, lack of centralization of care, ageadjusted expertise, and AYA follow-up care. AYAs typically present with a rare tumour: either with a paediatric malignancy (e.g. acute lymphoblastic leukaemia, paediatric brain tumours), a more typical tumour of AYA age (e.g. Hodgkin's disease, germ cell cancer, melanoma, thyroid cancer) or with an adult tumour at unusual young age (e.g. gastrointestinal, lung, breast carcinomas). Next to these differences in epidemiology, the tumour biology, developmental challenges (e.g. forming relationships, becoming financially independent, having children) and treatment regimens differ between AYAs and children, and therefore findings derived from childhood cancer survivors cannot be extrapolated to AYAs. Furthermore, novel treatments with targeted agents or immunotherapy are more likely to be administrated to AYAs compared to children. Finally, a rare group of incurable AYA cancer patients will survive for many years, for whom health outcome and supportive care intervention data are lacking.

Globally, so far, the identification of AYA cancer patient subgroups that might be more susceptible to poor health outcomes has not been systematically addressed. The role of sociodemographic and treatment-associated risks, external exposures (e.g. lifestyle) and host factors (e.g. genetic, biological, physiological); or combinations of influences for impaired (agespecific) health outcomes, remains largely unknown. Understanding who is at risk and why will support the development of evidence-based AYA prevention, treatment and supportive care programs and guidelines, in co-creation with AYA cancer patients.

Objective: To examine the prevalence, risk factors and mechanisms of impaired health outcomes (short- and long-term medical and psychosocial effects and late effects) over time among a population-based sample of AYA cancer patients.

Study design: Prospective, observational cohort study Study population: All AYAs diagnosed (18-39 years at primary diagnosis) with cancer (any type) within the first 3 months after diagnosis (eligibility window of 1 month to ensure all eligible AYA cancer patients can be included) in one of the participating centres (or treated in one of these centres) in The Netherlands.

Main study parameters/endpoints: The main outcomes are medical (e.g. second tumour; survival; fertility) and psychosocial (e.g. distress) health outcomes. Other study parameters (covariates/moderators/mediators) are characteristics of the individual (e.g. age, sex, cultural background, partner status, educational level, occupation, tumour type, disease stage, body composition, comorbid conditions, coping style), characteristics of the environment (e.g. cancer treatment, lifestyle), and genetic and biological factors (e.g. family history of cancer, stress and inflammation markers (e.g. cortisol, IL-6), microbiome).

Nature and extent of the burden and risks associated with participation, benefit and group relatedness: On an individual level, patients who participate are asked to complete questionnaires on an annual basis for at least 10 years. All sample collections will take place at three time points: 0-3 months after diagnosis (baseline), 2 and 5 years; except blood for DNA analyses which will only take place at baseline. The collection of blood, hair and faeces at three occasions is minimally invasive and the risks of blood draws, hair and fecal sampling are negligible. All safety measures and procedures will be performed according to local guidelines. Patients will not experience direct benefit from participation in the COMPRAYA study.

By participating, patients will contribute to a better insight in the prevalence of impaired medical and psychosocial (age-specific) health outcomes in AYA and evidence on factors associated with these health outcomes. This will lead to better and more personalized cancer care and supportive care tools for future AYA cancer patients.

The Prospective Observational COMPRAYA Cohort Study

COMPRehensive Assessment of Prevalence, Risk Factors and Mechanisms of Impaired Medical and Psychosocial Health Outcomes Among Adolescents and Young Adults With Cancer: the Prospective Observational COMPRAYA Cohort Study

Linkage to the Netherlands Cancer Registry (NCR) to asses second malignancies.

Linkage will done with the Personal Records Database (BRP) to have information on survival status.

Psychological distress will be assessed at each time point with the Hospital Anxiety and Depression Scale (HADS), with seven items each for assessing symptoms of anxiety and depression. Answers range from 0 to 3 and scores for each subscale are calculated by addition of the items, with a higher score meaning more anxiety or depression.

A questionnaire will be used to asses fertility problems and their wish for children. Linkage will be done to the Netherlands Perinatal Registry (NPR) to receive data about pregnancy and children.

The EORTC QLQ-C30 is a 30-item HRQoL questionnaire consisting of five functional scales (physical, role, cognitive, emotional and social), a global quality of life scales, symptom scales (fatigue, pain, nausea and vomiting) and a number of single items assessing common symptoms (dyspnea, loss of appetite, sleep disturbance, constipation and diarrhea) and perceived financial impact of the disease. After linear transformation, all scales and single item measures range in score from 0-100. A higher score on the functional scales and global QoL means better functioning and HRQoL, whereas a higher score on the symptom scales means more complaints.

The Netherlands Cancer Institute

Symptoms and General Pathology

Respiratory Tract (Lung and Bronchial) Diseases

Rare Diseases

Syndrome

Pneumothorax

Cysts

Birt-Hogg-Dube Syndrome

Pleural Diseases

Respiratory Tract Diseases

Neoplastic Syndromes, Hereditary

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

Immune System Diseases

Digestive System Diseases

Blood and Lymph Conditions

Asthma

Lung Diseases

Fibrosis

Pulmonary Fibrosis

Gastrointestinal Diseases

Sarcoidosis

Lymphangioleiomyomatosis

Hypersensitivity

Lung Diseases, Interstitial

Lymphoproliferative Disorders

Lymphatic Diseases

Hypersensitivity, Delayed

Lymphangiomyoma

Neoplasms by Histologic Type

Perivascular Epithelioid Cell Neoplasms

Neoplasms, Connective and Soft Tissue

Immunoproliferative Disorders

Joel Moss, M.D.

This study will examine bacteria and toxins in the mouth, lung and digestive system that may be the cause of various diseases or symptoms. H. pylori is a bacterium that produces various toxins that may contribute to lung problems. This study will examine specimens collected from the mouth, teeth, lung, digestive tract and blood to measure H. pylori and its toxins and their effects on cells.

People 18 years of age and older with or without gastrointestinal disease may be eligible for this study. These include people without a history of lung disease as well as patients with any of the following: lymphangioleiomyomatosis, asthma, sarcoidosis, other chronic or genetic lung disease (e.g., chronic obstructive pulmonary disease, cystic fibrosis or eosinophilic granuloma).

Participants may undergo the following tests:

* Blood and urine tests, chest x-ray.
* Measurement of arterial blood gases: A small needle is placed in an artery in the forearm to collect arterial blood.
* Lung function tests: Subjects breathe deeply and occasionally hold their breath. They may also receive a medication that expands the airways.
* Fiberoptic bronchoscopy with lavage and bronchial brushing: The subject's mouth and throat are numbed with lidocaine; a sedative may be given for comfort. A thin flexible tube called a bronchoscope is advanced through the nose or mouth into the lung airways to examine the airways. Saline (salt water) is then injected through the bronchoscope into the air passage and then removed by gentle suction. Next, a small brush is passed through the bronchoscope and an area of the airway is brushed to collect some cells for examination.
* Mouth rinsing or teeth brushing to collect cells.
* Endoscopy: A small needle and catheter (thin plastic tube) are placed into an arm vein to administer fluids and medications through the vein. A sedative may be given. The throat is numbed with lidocaine and a thin flexible tube called an endoscope is inserted through the mouth and down the esophagus into the stomach and upper part of the small intestine to examine those areas.

Vacuolating cytotoxin A (VacA toxin), an 88-kDa multifunctional protein, and other toxins are produced by Helicobacter pylori. We hypothesize that H. pylori, VacA toxin, and other toxins within the gastrointestinal tract and/or oropharynx are also found in the lung and may contribute to decline in lung function. Analyses of gastrointestinal, oropharyngeal, lung and blood specimens will improve the understanding of H. pylori, VacA toxin, and other toxins as well as their potential role in pathophysiology of disease. The objectives of this exploratory protocol are to procure gastrointestinal, oropharyngeal, lung and/or blood specimens from healthy research volunteers and subjects with lung disease (e.g., lymphangioleiomyomatosis, asthma, sarcoidosis, pulmonary fibrosis) and to analyze these specimens for H. pylori, VacA toxin, and other toxins. We hypothesize that the toxins may have a role in the pathogenesis of lung disease and in the subclinical decline in lung function seen with aging.

Role of Helicobacter Pylori and Its Toxins in Lung and Digestive System Diseases

Role of Helicobacter Pylori and Its Toxins in Pulmonary and Oropharyngeal Disease

Procure and analyze gastrointestinal, oropharyngeal, lung and/or blood specimens from healthy research volunteers and subjects with lung disease (e. g., lymphangioleiomyomatosis, asthma, sarcoidosis, pulmonary fibrosis). Comparison of specimens from subjects may further the understanding of H. pylori, VacA cytotoxin, and/or other toxins in oropharyngeal, pulmonary, and gastrointestinal conditions.

National Heart, Lung, and Blood Institute (NHLBI)

Lung Neoplasms

Genetic Predisposition to Disease

Disease Susceptibility

Disease Attributes

Individuals known to carry or at risk for carrying germline EGFR mutations (e.g., T790M, R776G/H/X, V769M, V834L, V843I, P848L, and others that will be identified). Patients with lung cancer with a somatic EGFR mutation prior to the initiation of treatment or who are found to have a suspected germline EGFR mutation via ctDNA analysis are also eligible.

Individuals known to carry or at risk for carrying non-EGFR germline mutations (e.g., HER2, BRCA2, MET, YAP1, and others that will be identified). Patients with lung cancer with a somatic variant suggestive of a possible hereditary lung cancer risk are also eligible.

Individuals and families with history of lung cancer where no pathogenic germline variant has been identified, but ascertained through history of one or more of the following:

* Multi-generational or first-degree relative with lung cancer
* Personal history of multiple primary lung cancers or other neoplasms
* Multi-focal lung cancer

* Provide blood and/or saliva sample
* Answer short questionnaires
* Consider consenting to other optional parts of the research such as:

  * use stored tissue samples related to prior cancer treatment
  * Allow access to deceased relatives' medical records and stored specimens
  * Provide blood 1x per year for up to 5 years
  * Provide contact information of family members

Data and Specimen Collection

Pasi A Jänne, MD, PhD

Jaclyn LoPiccolo, MD, PhD

Pasi A Janne, MD, PhD

The purpose of this research study is to learn more about the inherited risk for developing lung cancer.

Lung cancer is largely tobacco related, but the contribution of inherited susceptibility has been less well-studied, particularly among never-smokers. The goal of this study is to learn more about genetic susceptibility to lung cancer by studying individuals and families with known pathogenic germline mutations and/or family histories suggestive for heritable lung cancer, specifically in cases where tobacco exposure is minimal. Patients will be identified through somatic multi-gene panel testing (MGPT) as well as through reported personal and family histories of one or multiple cancers.

The overriding goal of this protocol is to follow patients with known germline mutations and strong family histories of lung cancer to better determine their risk of lung cancer and inform a screening paradigm based on this risk. This will allow us to observe the natural history of this disease and better understand the mechanisms underlying lung tumorigenesis in patients with susceptible germline backgrounds. These patients and their families will be enrolled as individuals with or without lung cancer who meet the following criteria: 1) individuals known to carry or at risk for carrying a germline EGFR mutation (T790M or other), identified through family members or by somatic genotyping at diagnosis, 2) individuals known to carry or at risk for carrying a pathogenic germline mutation in genes other than EGFR and with family history of lung cancer, or 3) individuals with no known germline mutation but with minimal exposure to tobacco and family history of lung cancer, personal history of other primary cancers, or multi-focal lung cancer.

This study is designed to create a data and specimen repository as well as follow patients over time to learn how to better predict lung cancer risk for those with certain genetic changes and family history of lung cancer, and to better understand how and why lung cancer develops in families.

The research study procedures include screening for eligibility, collection of information from participants' medical record, short questionnaires, and collecting blood and/or saliva samples. Procedures may also include use of tissue samples, access to medical records and stored specimens from deceased relatives, and contact information of family members.

It is expected that about 500 people will participant in this study.

Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

The Dana-Farber / Harvard Cancer Center encourages and supports the responsible and ethical sharing of data from clinical trials. De-identified participant data from the final research dataset used in the published manuscript may only be shared under the terms of a Data Use Agreement. Requests may be directed to: \[contact information for Sponsor Investigator or designee\]. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.

To determine the prevalence of rare germline EGFR T790M or other (e.g., EGFR V843I and R776H) mutations in lung cancer patients and in relatives of carriers of germline EGFR mutations

To determine the prevalence of rare germline non-EGFR mutations (e.g., HER2, BRCA2, MET, YAP1) in lung cancer patients and in relatives of carriers of germline non-EGFR mutations

To determine prevalence of rare pathogenic or likely pathogenic germline variants in individuals and families where lung cancer has occurred in multiple generations or across multiple family members of the same generation

To determine prevalence of rare pathogenic or likely pathogenic germline variants in lung cancer patients with multiple primary cancers or multi-focal NSCLC

To make a preliminary assessment of the natural history of lung cancers occurring in patients with germline EGFR mutations

To generate an initial estimate of the prevalence of CT-detected lung nodules in individuals with germline EGFR mutations

Prospective registry of patients and families with hereditary or familial lung cancer to collect clinicopathologic information and biologic specimens.

Dana-Farber Cancer Institute

Principal Investigator

Skin and Connective Tissue Diseases

Breast Neoplasms

Breast Diseases

Skin Diseases

blood sample for BRCA2 mutation detection

In mainland France, breast cancer is the most common cancer in women, with an estimated incidence of over 58,000 new cases. Even if breast cancer is a cancer with a good prognosis, it is responsible for more than 12,000 deaths per year (first cause of death by cancer in women in France).

Breast cancer is a multifactorial disease, which results from the interaction between environmental, lifestyle, hormonal and genetic risk factors.

In Reunion, more than 400 cases of breast cancer are diagnosed annually. As in mainland France, it is by far the most common cancer in Reunionese women, and its incidence continues to increase significantly since the age-standardized incidence rate increased by 28% between 2007 and 2017 to establish at 64.2/100,000 AP.

Two studies carried out in patients carrying mutations in the breast-ovary predisposition genes in Reunion, showed that more than 50% of patients carrying BRCA mutation have a mutation specific to the Reunion population on the BRCA2 gene.

These two studies, which confirm the genetic specificities of Reunion already described in other pathologies (Mucoviscidosis or Friedreich's Ataxia), suggest that this mutation could have a significant frequency in patients with breast cancer. Thus, evaluating the prevalence of this mutation in patients with breast cancer in Réunion would make it possible to adapt the indications for access to the oncogenetics consultation and the associated preventive measures

Contribution of Oncogenetics in Breast Cancer in Reunion Epidemiology of Breast Cancer in Reunion: Study of the Reunion Mutation on BRCA2

Centre Hospitalier Universitaire de la Réunion

Disclosure of results with a Genetic Counselor.

eHealth disclosure of results by private web-portal (with option to speak with a GC).

The intervention involves delivering actionable genetic research results to participants via a secure, private web-portal.

private web-portal eHealth disclosure of genetic results

The intervention involves pre-disclosure education via an eHealth intervention (web or chatbot). The intervention will review the types of actionable results being returned, the method of return, the differences between research and clinical testing, the need for confirmation testing and the benefits, risks and limitations of receiving actionable genetic research results and study steps and procedures.

eHealth education intervention (web or chatbot)

Angela Bradbury, MD

The goal of this hybrid type 1 effectiveness-implementation study is to evaluate and compare different ways of delivering genetic research results to participants. The main questions the study aims to answer are:

* Is sharing actionable genetic research results with participants through a multimedia patient-informed eHealth intervention (e.g. patient portal) no worse than sharing results by telephone or videoconference with a genetic counselor?
* Will research participants access an eHealth educational intervention or chatbot education to learn about research results being offered and the option to decline learning their individual research results and how frequently participants choose to decline actionable research results?
* Who benefits less and more from digital intervention with return of actionable research results and what barriers exist to using these tools for return of research results outside this study?

Participants in the biobank will be offered digital tools to learn about research results being offered and the option to decline receiving these results. Those who don't decline and have an actionable result will be randomly assigned to receive their results with a genetic counselor or through an eHealth portal. Participants will complete surveys before and after receipt of results to understand patient experiences with these methods of education and return of results to determine if digital tools can be used to help ensure more patients get access to research results which could impact their health.

The scientific aims of the study are:

Aim 1 (Effectiveness of eHealth return of results): To evaluate in a randomized study whether disclosure of actionable genetic results by an eHealth intervention (eHealthROR) provides non-inferior short-term and longitudinal outcomes (knowledge, psychological distress, health and psychosocial behaviors and costs) compared to phone disclosure by a GC (e.g. usual care).

Aim 2 (eHealth education and assessing preferences): To evaluate: a) the uptake of supplemental eHealth (eHealthED) and chatbot education (chatED) among 1250 Penn Biobank research participants notified of the option to opt-out of receipt of actionable genetic research results; b) the frequency of opting-out of receipt of actionable genetic research results; and c) the impact of eHealthED/chatED use on opting out of receipt of results.

Aim 3 (Implementation): To conduct a multi-stakeholder mixed-methods process evaluation, to understand: a) potential moderators (e.g. intervention usage, sociodemographic factors, genetic test result) of short-term and longitudinal outcomes to understand who benefits more or less from eHealth/chatbot education and eHealth return of result; and b) facilitators and barriers to implementation of eHealth/chatbot interventions for return of actionable genetic research results and recommendations for future adaptation and sustainability.

Penn Medicine Biobank Return of Results Program

A Randomized Study of Web Versus Genetic Counselor Return of Actionable Genetic Research Results to Biobank Participants

We will adhere to the NIH Grant Policy on Sharing of Unique Research Resources including the Sharing of Biomedical Research Resources Principles and Guidelines for Recipients of NIH Grants and Contracts. Any unique resources developed as a result of this grant, will be made available immediately after publication. We will consider requests for individual participant data, contingent upon signing a Data Use Agreement.

Will be evaluated using an adapted version of the Know Gene Scale, a 16-item assessment administered to patients after genetic testing and/or genetic counseling to measure their understanding of the health implications of genetic testing results. The scale uses three responses, Agree, Disagree, and Don't Know, as response to a statement about genetics. Final scores range from 0-16, with a higher score indicating a better outcome for knowledge.

Will be measured using an 8-item version of the Revised Impact of Events Scale (RIES). The RIES has been utilized to assess response to disease-related stressors, such as being at genetic risk. The scale uses a minimum of 0 to maximum of 5 to rate each item. Final total scores range from 0 to 40, with higher scores meaning a worse outcome.

Risk-reducing behaviors intention and performance will be assessed with close-ended and open-ended items depending on the specific gene. General health status and risk modifying behaviors will also be assessed.

Perceived risk of cancer or cardiovascular disease will be measured utilizing 2 items. The first item will use a verbal scale with a minimum value of "much lower" to maximum value of "much higher" to measure perceived risk of disease in comparison to general population risk. The second item will assess overall perception of risk utilizing a scale from 0% (minimum) to 100% (maximum) lifetime risk for the disease. Higher values indicate a higher level of perceived risk of disease.

Will be evaluated utilizing the 4-item NIH Patient-Reported Outcomes Measurement Information System (PROMIS) depression measure and the 4-item NIH PROMIS anxiety measure. The PROMIS depression and anxiety measures each have a minimum score of 4 and a maximum score of 20, with higher scores meaning a worse outcome.

Evaluation of distress, uncertainty, and positive responses measured using 20 items from the Multi-dimensional Impact of Cancer Risk Assessment Questionnaire (MICRA). The scale uses a minimum value of 0 (Never) to maximum value of 5 (Often) for each item. Final total scores can range from 0 to 100, with higher scores meaning a worse outcome.

Will be evaluated utilizing the 5-item validated Decisional Regret Scale. The scale uses a minimum value of 1 (Strongly Agree) to maximum value of 5 (Strongly Disagree) for each item. Final total global scores range from 0 (no regret) to 100 (high regret).

3 items evaluating intent to communicate genetic test results with health care providers, family members and other third parties

3 items to evaluate actual communication of genetic test results to health care providers, family members, and other third parties

Fox Chase Cancer Center

Columbia University

Thomas Jefferson University

University of Pennsylvania

Leukemia

Preleukemia

Myelodysplastic Syndromes

Anemia

Lymphoma

Anemia, Aplastic

Hematologic Diseases

Bone Marrow Failure Disorders

Pancytopenia

Bone Marrow Diseases

Precancerous Conditions

Lymphosarcoma

Aplastic Anemia

Transplantation of cryopreserved umbilical cord blood unit(s)

Umbilical Cord Blood Transplantation

Pablo Rubinstein, M.D.

Umbilical cord blood is used as a source of hematopoietic stem cells for bone marrow reconstitution in patients who would be potential candidates for a bone marrow transplant from an unrelated marrow donor. The outcome of transplantation is obtained to assess cord blood myeloid and platelet engraftment, transplant related mortality, overall survival, graft vs. host disease and, for patients with leukemia, lymphoma or myelodysplasia, relapse.

Umbilical cord blood donated to the New York Blood Center's National Cord Blood Program is collect, tested, processed, cryoprotected and frozen in liquid nitrogen for possible future transplantation to anyone who needs it. The Program has operated under a FDA IND exemption since 1996 and is licensed as a tissue bank by the New York State Department of Health.

Candidates for transplant are patients who disease requires bone marrow transplantation but who do not have a suitable related bone marrow donor. Most patients are those with high risk of refractory leukemia, lymphoma, myelodysplasia, severe aplastic anemia and certain genetic hematologic, immunologic and metabolic diseases.

Patients are treated at bone marrow transplant centers in the United States and in other countries with active marrow transplant programs. Because the NYBC Program operates under IND, patients must sign an informed consent for cord blood transplantation.

Transplant centers report on the transplant procedure (including immediate complications) and on transplant outcome at 3, 6 and 12 months post-transplant and annually thereafter. Data report to the New York Blood Center includes information about the patient's disease and pre-transplant conditioning regimen and post-transplant endpoints, primarily myeloid and platelet engraftment, transplant related mortality, overall survival, acute and chronic graft vs. host disease, relapse and other post-transplant complications such as infectious disease. The outcome data is used to assess safety and efficacy and will be used to apply for a license from the FDA.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
The Prospective Observational COMPRAYA Cohort Study	NCT04682470	Second Cancer Survivorship Fertility Issue... Distress, Emoti... Lifestyle Genetic Disease Cancer	No intervention...	18 Years - 39 Years	The Netherlands Cancer Institute
Prevalence of Spontaneous Pneumothorax in BHD	NCT02916992	Spontaneous Pne...	CT scan of the ... blood sample fo...	18 Years -	Free University Medical Center
Role of Helicobacter Pylori and Its Toxins in Lung and Digestive System Diseases	NCT00366509	Pulmonary Disea... Oropharyngeal D... Lymphangioleiom... Pulmonary Fibro... Asthma Sarcoidosis		18 Years - 99 Years	National Institutes of Health Clinical Center (CC)
Investigating Hereditary Risk In Thoracic Cancers (INHERIT)	NCT05587439	Lung Cancer Genetic Disease Genetic Predisp... Hereditary Dise...	Data and Specim...	18 Years -	Dana-Farber Cancer Institute
Contribution of Oncogenetics in Breast Cancer in Reunion Epidemiology of Breast Cancer in Reunion: Study of the Reunion Mutation on BRCA2	NCT05898009	Breast Cancer Genetic Disease BRCA2 Mutation	blood sample fo...	18 Years -	Centre Hospitalier Universitaire de la Réunion
Investigating Hereditary Risk In Thoracic Cancers (INHERIT)	NCT05587439	Lung Cancer Genetic Disease Genetic Predisp... Hereditary Dise...	Data and Specim...	18 Years -	Dana-Farber Cancer Institute
The Prospective Observational COMPRAYA Cohort Study	NCT04682470	Second Cancer Survivorship Fertility Issue... Distress, Emoti... Lifestyle Genetic Disease Cancer	No intervention...	18 Years - 39 Years	The Netherlands Cancer Institute
Penn Medicine Biobank Return of Results Program	NCT06089954	Genetic Disease Cancer Cardiovascular ...	private web-por... eHealth educati...	18 Years -	University of Pennsylvania
Penn Medicine Biobank Return of Results Program	NCT06089954	Genetic Disease Cancer Cardiovascular ...	private web-por... eHealth educati...	18 Years -	University of Pennsylvania
New York Blood Center National Cord Blood Program	NCT00212407	Leukemia Lymphoma Genetic Disease Severe Aplastic... Myelodysplasia	Umbilical Cord ...	-	New York Blood Center

Spots Global Cancer Trial Database for genetic disease