cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.60645/bdc-5gzg-8185
title: Multicenter Study of Hydroxyurea (MSH)

description: 
This study aimed to determine whether or not treatment with hydroxyurea titrated to maximum tolerated doses would reduce the frequency of vaso-occlusive (painful) crises by at least 50% in 299 men and women between 18 and 50 years old with a diagnosis of sickle cell anemia by gel electrophoresis conducted by a Core Laboratory. A secondary objective investigated correlations of fetal hemoglobin (HbF) levels and other patient or treatment characteristics with the occurrence of vaso-occlusive (painful) crises, and the effect of treatment on the quality of life.

This controlled trial made hydroxyurea the first drug of proven benefit in preventing vaso-occlusive pain crisis and acute chest syndrome caused by sickle cell disease, with additional findings including reduced mortality in adult patients taking hydroxyurea for frequent painful sickle cell episodes after 9 of years follow-up. No significant side-effects of hydroxyurea therapy were noted.

Instructions for requesting individual-level data are available on BioData Catalyst at [https://biodatacatalyst.nhlbi.nih.gov/resources/data/](https://biodatacatalyst.nhlbi.nih.gov/resources/data/). Apply for data access in dbGaP. Upon approval, users may begin accessing requested data in BioData Catalyst. For questions about availability, you may contact the BioData Catalyst team at [https://biodatacatalyst.nhlbi.nih.gov/contact](https://biodatacatalyst.nhlbi.nih.gov/contact).
DOI: 10.60645/bdc-0g2z-ft16
title: Cooperative Study of Sickle Cell Disease (CSSCD)

description: 
The Cooperative Study of Sickle Cell Disease was initiated in 1977 to determine the natural history of sickle cell disease (SCD) from birth to death in order to identify those factors contributing to the morbidity and mortality of the disease. Specific objectives included: 1) to study the effect of sickle cell disease on growth and development from birth through adolescence 2) to study the conditions or events that may be related to the onset of painful crises 3) to obtain data on the nature, duration, and outcome of major complications of SCD 4) determine the nature, prevalence, and age- related incidence of organ damage due to SCD, and 5) study the role of SCD and its interaction with selected health events.

Phases 2 and 3 of the study involved followup of the infant cohort. A total of 709 infants (age less than 6 months) were enrolled during Phase 1 of the Cooperative Study of Sickle Cell Disease (CSSCD), and Phases 2 and 3 of the CSSCD was designed to follow these children for an additional 10 years. The study objectives included: 1) define prospectively the natural history of sickle cell disease; 2) determine the relationships between cognitive and academic functioning and brain status as determined by MRI; 3) determine the cognitive or behavioral markers of silent infarct; 4) determine the relationship of family functioning on the Family Environment Scale (FES) to brain status, cognitive functioning, and social and demographic factors; 5) continue studies that will enhance the state of knowledge on the influence of sickle cell disease on the psychosocial adjustment of children and adolescents.


Phase 2A of the study sought to examine the progression of organ damage in the heart, lung, kidney, and liver in adult cohort patients (born before 1/1/56) enrolled in phase 1 of the study between 3/79 and 5/81. A total of 620 patients from 11 centers were eligible for phase 2A.

Instructions for requesting individual-level data are available on BioData Catalyst at [https://biodatacatalyst.nhlbi.nih.gov/resources/data/](https://biodatacatalyst.nhlbi.nih.gov/resources/data/). Apply for data access in dbGaP. Upon approval, users may begin accessing requested data in BioData Catalyst. For questions about availability, you may contact the BioData Catalyst team at [https://biodatacatalyst.nhlbi.nih.gov/contact](https://biodatacatalyst.nhlbi.nih.gov/contact).
DOI: 10.60645/bdc-s8m4-9x3s
title: PETAL Repository of Electronic Data COVID-19 Observational Study (RED CORAL)

description: 
To describe characteristics, treatment, and outcomes among patients hospitalized with COVID-19 early in the pandemic, 1480 consecutive adult inpatients with laboratory-confirmed, symptomatic SARS-CoV-2 infection admitted to 57 US hospitals from March 1 to April 1, 2020 were studied.
DOI: 10.60645/bdc-x45y-b86g
title: Metabolomic Predictors of Insulin Resistance and Diabetes

description: 
Our lab has identified and validated novel metabolite profiles of those destined to develop overt T2D. These metabolites were elevated up to 12 years before the onset of T2D in individuals who were initially glucose-tolerant; improved prediction of T2D beyond clinical risk factors and established biochemical markers; and have been validated by other groups. We have now extended our studies to participants in the [Jackson Heart Study](https://www.jacksonheartstudy.org/) (JHS), an African American (AA) population with a high prevalence of T2D and its complications. We have also tested the predictive value of metabolites in a key clinical trial, the [Diabetes Prevention Program](https://www.cdc.gov/diabetes/prevention/index.html) (DPP).



Our study has leveraged critical advances. Beyond the named metabolites that we have associated with incident T2D, our recent "whole metabolome" analyses of T2D and related traits in JHS have nominated hundreds of unknown compounds that are uncorrelated with existing biochemical markers for unambiguous identification. We have used novel, in-house mass spectrometry (MS) and bioinformatics tools to unambiguously identify these compounds. To complement the MS work, genome wide association studies (GWAS) and genetic correlation analyses of metabolites and proteins were used to assign metabolite peaks to pathways (e.g., based on association with known metabolites or with enzymes or solute carriers) that informed their identity. Available data will include metabolomics datasets and gwas summary statistics.
DOI: 10.60645/bdc-3cc1-5nuj
title: Metabolomic Predictors of Insulin Resistance and Diabetes

description: 
Our lab has identified and validated novel metabolite profiles of those destined to develop overt T2D. These metabolites were elevated up to 12 years before the onset of T2D in individuals who were initially glucose-tolerant; improved prediction of T2D beyond clinical risk factors and established biochemical markers; and have been validated by other groups. We have now extended our studies to participants in the [Jackson Heart Study](https://www.jacksonheartstudy.org/) (JHS), an African American (AA) population with a high prevalence of T2D and its complications. We have also tested the predictive value of metabolites in a key clinical trial, the [Diabetes Prevention Program](https://www.cdc.gov/diabetes/prevention/index.html) (DPP).



Our study has leveraged critical advances. Beyond the named metabolites that we have associated with incident T2D, our recent "whole metabolome" analyses of T2D and related traits in JHS have nominated hundreds of unknown compounds that are uncorrelated with existing biochemical markers for unambiguous identification. We have used novel, in-house mass spectrometry (MS) and bioinformatics tools to unambiguously identify these compounds. To complement the MS work, genome wide association studies (GWAS) and genetic correlation analyses of metabolites and proteins were used to assign metabolite peaks to pathways (e.g., based on association with known metabolites or with enzymes or solute carriers) that informed their identity. Available data will include metabolomics datasets and gwas summary statistics.
DOI: 10.60645/bdc-ruq0-p394
title: Metabolomic Predictors of Insulin Resistance and Diabetes

description: 
Our lab has identified and validated novel metabolite profiles of those destined to develop overt T2D. These metabolites were elevated up to 12 years before the onset of T2D in individuals who were initially glucose-tolerant; improved prediction of T2D beyond clinical risk factors and established biochemical markers; and have been validated by other groups. We have now extended our studies to participants in the [Jackson Heart Study](https://www.jacksonheartstudy.org/) (JHS), an African American (AA) population with a high prevalence of T2D and its complications. We have also tested the predictive value of metabolites in a key clinical trial, the [Diabetes Prevention Program](https://www.cdc.gov/diabetes/prevention/index.html) (DPP).



Our study has leveraged critical advances. Beyond the named metabolites that we have associated with incident T2D, our recent "whole metabolome" analyses of T2D and related traits in JHS have nominated hundreds of unknown compounds that are uncorrelated with existing biochemical markers for unambiguous identification. We have used novel, in-house mass spectrometry (MS) and bioinformatics tools to unambiguously identify these compounds. To complement the MS work, genome wide association studies (GWAS) and genetic correlation analyses of metabolites and proteins were used to assign metabolite peaks to pathways (e.g., based on association with known metabolites or with enzymes or solute carriers) that informed their identity. Available data will include metabolomics datasets and gwas summary statistics.
DOI: 10.60645/bdc-67y2-8069
title: Metabolomic Predictors of Insulin Resistance and Diabetes

description: 
Our lab has identified and validated novel metabolite profiles of those destined to develop overt T2D. These metabolites were elevated up to 12 years before the onset of T2D in individuals who were initially glucose-tolerant; improved prediction of T2D beyond clinical risk factors and established biochemical markers; and have been validated by other groups. We have now extended our studies to participants in the [Jackson Heart Study](https://www.jacksonheartstudy.org/) (JHS), an African American (AA) population with a high prevalence of T2D and its complications. We have also tested the predictive value of metabolites in a key clinical trial, the [Diabetes Prevention Program](https://www.cdc.gov/diabetes/prevention/index.html) (DPP).



Our study has leveraged critical advances. Beyond the named metabolites that we have associated with incident T2D, our recent "whole metabolome" analyses of T2D and related traits in JHS have nominated hundreds of unknown compounds that are uncorrelated with existing biochemical markers for unambiguous identification. We have used novel, in-house mass spectrometry (MS) and bioinformatics tools to unambiguously identify these compounds. To complement the MS work, genome wide association studies (GWAS) and genetic correlation analyses of metabolites and proteins were used to assign metabolite peaks to pathways (e.g., based on association with known metabolites or with enzymes or solute carriers) that informed their identity. Available data will include metabolomics datasets and gwas summary statistics.
DOI: 10.60645/bdc-2a2f-n750
title: Hematopoietic Cell Transplant for Sickle Cell Disease (HCT for SCD)

description: 
The Center for International Blood and Marrow Transplant Research (CIBMTR) is a hematopoietic cell transplant registry that was established in 1972 at the Medical College of Wisconsin. The overarching goal of the registry is to study trends in transplantations and to advance the understanding and application of allogeneic hematopoietic cell transplantation for malignant and non-malignant diseases. Included in this dataset are children, adolescents and young adults with severe sickle cell disease who received an allogeneic hematopoietic cell transplant in the United States and provided written informed consent for research.

Hematopoietic cell transplant for sickle cell disease is curative. Offering this treatment for patients with severe disease is challenging as only about 20-25% of patients expected to benefit have an HLA-matched sibling. Consequently, several transplantations have utilized an HLA-matched or mismatched unrelated adult donor and HLA-mismatched relative. Transplantation strategies have also evolved over time that has included transplant conditioning regimens of varying intensity, grafts other than bone marrow and novel approaches to overcome the donor-recipient histocompatibility barrier and limit graft-versus-host disease. The data that is available for sickle cell disease transplants have been utilized to report on outcomes after transplantation and compare outcomes after transplantation of grafts HLA-matched related, HLA-mismatched related, HLA-matched and HLA-mismatched unrelated donors. Collectively, these data have advanced our knowledge and understanding of hematopoietic cell transplant for this disease. These data can also serve as "contemporaneous controls" for comparison with other more recent curative treatments like gene therapy and gene editing.

Data available for request include allogeneic hematopoietic cell transplants for sickle cell disease (Hb SS and Hb S&#946; thalassemia) in the United States from 1991 to 2019. Follow-up data through December 2020 are available.

Instructions for requesting individual-level data are available on BioData Catalyst at [https://biodatacatalyst.nhlbi.nih.gov/resources/data/](https://biodatacatalyst.nhlbi.nih.gov/resources/data/). Apply for data access in dbGaP. Upon approval, users may begin accessing requested data in BioData Catalyst. For questions about availability, you may contact the BioData Catalyst team at [https://biodatacatalyst.nhlbi.nih.gov/contact](https://biodatacatalyst.nhlbi.nih.gov/contact).<br>
DOI: 10.60645/bdc-788g-754q
title: Optimizing Primary Stroke Prevention in Children with Sickle Cell Anemia (STOP II)

description: 
The STOP II trial evaluated whether prophylactic transfusion in patients with sickle cell disease and high risk of stroke can be safely halted after 30 months of treatment during which patients became low risk for stroke.

Stroke causes substantial morbidity in children with sickle cell disease. To prevent first strokes, the Stroke Prevention Trial in Sickle Cell Anemia (STOP) used prophylactic transfusions in children who were identified by transcranial Doppler (TCD) ultrasonography as being at high risk for stroke. This strategy reduced the incidence of stroke among such children from 10% per year to less than 1% per year, leading to recommendations for TCD screening and prophylactic transfusion for children with abnormal velocities on ultrasonography.


Despite the reduced risk of stroke, long-term use of transfusions can cause adverse side effects, such as iron overload or alloimmunization. However, cessation of transfusions is associated with recurrence of stroke, and at the time of the STOP II trial, there were no clinical or laboratory indicators to guide the duration of prophylaxis. Therefore the STOP II trial was initiated to determine whether transfusions could be limited by monitoring patients with TCD examinations after transfusions were halted and resuming transfusions if the examination indicated a high risk of stroke.

The trial was halted for safety concerns after 79 of a planned 100 children were randomized. Discontinuation of transfusion for the prevention of stroke in children with sickle cell disease resulted in a high rate of reversion to abnormal blood-flow velocities on Doppler studies and stroke incidence.

Instructions for requesting individual-level data are available on BioData Catalyst at [https://biodatacatalyst.nhlbi.nih.gov/resources/data/](https://biodatacatalyst.nhlbi.nih.gov/resources/data/). Apply for data access in dbGaP. Upon approval, users may begin accessing requested data in BioData Catalyst. For questions about availability, you may contact the BioData Catalyst team at [https://biodatacatalyst.nhlbi.nih.gov/contact](https://biodatacatalyst.nhlbi.nih.gov/contact).
DOI: 10.60645/bdc-f028-p06z
title: Hydroxyurea to Prevent Organ Damage in Children with Sickle Cell Anemia (BABY HUG) Phase III Clinical Trial and Follow-Up Observational Studies I and II

description: <li>A randomized controlled trial comparing hydroxyurea to placebo in very young children with sickle cell anemia (BABY HUG Randomized Controlled Trial)
</li><li>The first observational follow-up study of children from the randomized controlled trial (BABY HUG Follow-Up Study I). All children in Follow-Up Study I were offered the option of taking open-label hydroxyurea, with treatment decisions made by the family and the clinical team caring for the child.
</li>- The second observational follow-up study of children from BABY HUG Follow-Up Study I. All children in Follow-Up Study II were offered the option of taking open-label hydroxyurea, with treatment decisions made by the family and the clinical team caring for the child.
The purpose of the Randomized Controlled Trial was to determine if hydroxyurea can safely prevent early end organ damage in very young children with sickle cell anemia.


The purpose of the BABY HUG Follow-up Study I was to provide structured follow-up of the children enrolled in the BABY HUG Randomized Controlled Trial, in order to characterize the long-term toxicities and unexpected risks (if any) associated with treatment with hydroxyurea at an early age.


The objective of Follow-Up Study II was to obtain additional data about the long-term safety and efficacy of hydroxyurea use in children with Sickle Cell Anemia through at least the first decade of life.

Instructions for requesting individual-level data are available on BioData Catalyst at [https://biodatacatalyst.nhlbi.nih.gov/resources/data/](https://biodatacatalyst.nhlbi.nih.gov/resources/data/). Apply for data access in dbGaP. Upon approval, users may begin accessing requested data in BioData Catalyst. For questions about availability, you may contact the BioData Catalyst team at [https://biodatacatalyst.nhlbi.nih.gov/contact](https://biodatacatalyst.nhlbi.nih.gov/contact).
DOI: 10.60645/bdc-cv58-5yph
title: Framingham CHARGE Alzheimer&#39;s Disease Sequencing Project (ADSP)

description: 
To identify novel genetic variation influencing AD risk and protection, the Alzheimer's Disease Sequencing Project (ADSP) was implemented as a collaborative effort of the National Institutes on Aging, the National Human Genome Research Institute, and the Alzheimer disease research community. Study design and sample selection were conducted to address issues of phenotypic heterogeneity and maximize statistical power. The study design includes 2 primary phases: a whole-genome sequencing (WGS) family-based study and a whole-exome sequencing (WES) case-control study. The WGS study was designed to target rarer variation through allelic segregation and linkage analyses in multiplex AD families. The WES case-control study was designed to target low-frequency coding variation in genes that contribute to AD risk or protection.


The FHS ADSP WES samples are from the WES case-control study phase.
DOI: 10.60645/bdc-zi8t-3630
title: Framingham CHARGE Alzheimer&#39;s Disease Sequencing Project (ADSP)

description: 
To identify novel genetic variation influencing AD risk and protection, the Alzheimer's Disease Sequencing Project (ADSP) was implemented as a collaborative effort of the National Institutes on Aging, the National Human Genome Research Institute, and the Alzheimer disease research community. Study design and sample selection were conducted to address issues of phenotypic heterogeneity and maximize statistical power. The study design includes 2 primary phases: a whole-genome sequencing (WGS) family-based study and a whole-exome sequencing (WES) case-control study. The WGS study was designed to target rarer variation through allelic segregation and linkage analyses in multiplex AD families. The WES case-control study was designed to target low-frequency coding variation in genes that contribute to AD risk or protection.


The FHS ADSP WES samples are from the WES case-control study phase.
DOI: 10.60645/bdc-77y4-0036
title: Framingham BRain Imaging, cognition, Dementia and next generation GEnomics (BRIDGET)

description: 
The BRIDGET study population comprises six large, richly phenotyped and genotyped prospective cohort studies of middle-aged and older community-dwelling persons: Austrian Stroke Prevention Study [ASPS], Rotterdam Study, Study of Health in Pomerania [SHIP], 3C-Dijon Study, Lothian Birth Cohort 1936 [LBC1936], and Framingham Heart Study (FHS). The FHS is an external partner participating in this project through independent funding.

Alzheimer's disease (AD) begins many years before diagnosis and yet its etiology is still poorly understood. The BRIDGET consortium aims to identify genetic variants that are associated with structural brain aging, cognitive performance, and dementia risk in richly phenotyped population-based samples. This work aims to provide crucial information on the molecular pathways leading to AD, potentially leading to improved health outcomes for our aging population. This includes an innovative exploration of lifetime changes in methylation associated with structural brain alterations using a novel bisulfite sequencing technology, to help identify functional and disease relevant variants.
DOI: 10.60645/bdc-z4sg-f5sy
title: Framingham BRain Imaging, cognition, Dementia and next generation GEnomics (BRIDGET)

description: 
The BRIDGET study population comprises six large, richly phenotyped and genotyped prospective cohort studies of middle-aged and older community-dwelling persons: Austrian Stroke Prevention Study [ASPS], Rotterdam Study, Study of Health in Pomerania [SHIP], 3C-Dijon Study, Lothian Birth Cohort 1936 [LBC1936], and Framingham Heart Study (FHS). The FHS is an external partner participating in this project through independent funding.

Alzheimer's disease (AD) begins many years before diagnosis and yet its etiology is still poorly understood. The BRIDGET consortium aims to identify genetic variants that are associated with structural brain aging, cognitive performance, and dementia risk in richly phenotyped population-based samples. This work aims to provide crucial information on the molecular pathways leading to AD, potentially leading to improved health outcomes for our aging population. This includes an innovative exploration of lifetime changes in methylation associated with structural brain alterations using a novel bisulfite sequencing technology, to help identify functional and disease relevant variants.
DOI: 10.60645/bdc-6qw5-2z6a
title: Clinical and Genetic Correlates of the Gut Microbiome and Relation to Cardiometabolic Risk

description: 
The human gut harbors trillions of microbes that play dynamic roles in health. While the microbiome contributes to many cardiometabolic traits by modulating host inflammation and metabolism, there is an incomplete understanding regarding the extent and mechanisms by which individual microbes impact risk and development of cardiovascular disease (CVD). The Framingham Heart Study (FHS) is a multi-generational observational study following participants over decades to identify risk factors for CVD by correlating genetic and phenotypic factors with clinical outcomes. As a large-scale population-based cohort with extensive clinical phenotyping, FHS provides a rich landscape to explore the relationships between the gut microbiome and cardiometabolic traits

Available Data sets

Currently we have the following data set available in the 'Authorized Access' area of dbGaP.

1. Cholesterol Metabolism by Uncultured Human Gut Bacteria Influences Host Cholesterol


This data set, consisting of metagenome FASTQ data from 624 FHS participants, was released in conjunction with PMID: [32544460](https://pubmed.ncbi.nlm.nih.gov/32544460/).