Goal 2: Reduce Human Disease

Rare Lung Diseases/Sarcoidosis

To conduct longitudinal gene expression analysis of adaptive immunophenotypes within newly-diagnosed sarcoidosis subjects who spontaneously resolve their pulmonary disease compared to those to experience disease progression.

Submitted by (@nhlbiforumadministrator)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Compelling Question (CQ)

Details on the impact of addressing this CQ or CC :

As you know, sarcoidosis is a granulomatous disease of unknown etiology, characterized by disparate clinical outcomes. Its pathogenesis is a multifactorial process, characterized by dysregulation of T lymphocyte function and Th-1 cytokine expression. Systemic defects in IL-2 and IFNy expression in sarcoidosis have been well-described" 2 Reductions in the cytokine IL-2 and its mediator, lymphocyte-specific protein tyrosine kinase (p56Lck), correlate with disease severity", Also, CD4+ and CD8+ T cells, as well as B cell lymphopenia is associated with disease severity", These observations are particularly important because loss of adaptive immunity and reduced Lck expression has been associated with disease progression among granulomatous disease.

Name of idea submitter and other team members who worked on this idea : ATS Member

Voting

3 net votes
3 up votes
0 down votes
Active

Goal 2: Reduce Human Disease

Rare Lung Diseases/Sarcoidosis

To investigate the effects of antimycobacterial therapy on pulmonary and extrapulmonary immune response and granulomatous disease.

Submitted by (@nhlbiforumadministrator)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Compelling Question (CQ)

Details on the impact of addressing this CQ or CC :

As you know, sarcoidosis is a granulomatous disease of unknown etiology, characterized by disparate clinical outcomes. Its pathogenesis is a multifactorial process, characterized by dysregulation of T lymphocyte function and Th-1 cytokine expression. Systemic defects in IL-2 and IFNy expression in sarcoidosis have been well-described" 2 Reductions in the cytokine IL-2 and its mediator, lymphocyte-specific protein tyrosine kinase (p56Lck), correlate with disease severity", Also, CD4+ and CD8+ T cells, as well as B cell lymphopenia is associated with disease severity", These observations are particularly important because loss of adaptive immunity and reduced Lck expression has been associated with disease progression among granulomatous disease.

Name of idea submitter and other team members who worked on this idea : ATS Member

Voting

2 net votes
2 up votes
0 down votes
Active

Goal 2: Reduce Human Disease

Define the biological basis, new diagnostics and therapeutics for severe sarcoidosis phenotypes

Sarcoidosis affects individuals of all races and ages and both genders, although it tends to cause significant morbidity and mortality for people in the prime of their productive life. Women, minorities and underserved populations tend to be more affected. Recent studies suggest that sarcoidosis and its severe manifestations, such as cardiac, neurologic and end stage pulmonary disease' are increasing, While the current ...more »

Submitted by (@maierl)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Critical Challenge (CC)

Details on the impact of addressing this CQ or CC :

Increasing our understanding of the biological basis of sarcoidosis, its more severe phenotypes, and resolution of disease, will help improve detection and personalized management and treatment of this disease, ultimately reducing disease burden. With the current availability of epidemiologic, genetic, genomic and epigenetic tools and studies, as well as buy in from sarcoidosis patient groups, we are poised to address why some people develop more severe forms of this disease. While genetic variants are associated with sarcoidosis, the specific variants responsible for disease risk and that dictate disease activity are largely unknown. The results of studies to date suggest that other susceptibility factors or forms of genetic regulation must act in concert with exposure in the development of sarcoidosis. Growing data in other immune-mediated diseases suggests that epigenetic mechanisms in combination with genetic susceptibility and environment may help explain disease risk. By understanding these genetic, genomic and epigenetic factors, and better defining the natural history of sarcoidosis, interventions can be tested and undertaken to potentially prevent or treat the development and or progression of this devastating disease.

Feasibility and challenges of addressing this CQ or CC :

The care and management of individuals with sarcoidosis is not well standardized. This has been hampered by a lack of understanding of the natural history, which appears to vary significantly. As a result, undertaking studies to define the pathobiology of this disease is biased based on the centers and researchers involved. There have been few limited multi-center studies of sarcoidosis, except for pharmaceutical trials. In the past few years, NHLBI has funded the GRADS study, a cross-sectional multi-center study, laying the ground work for needed longitudinal multi-center studies of the biological basis of disease. With involvement from a larger sarcoidosis research community and the ability to undertake large scale studies to not only define the epidemiology of this disease, but also the pathobiology of disease based on integrative Omics, new personalized diagnostics and therapeutics can be developed and tested to help address the burden of sarcoidosis.

Name of idea submitter and other team members who worked on this idea : Lisa Maier, Nabeel Hamzeh, Tasha Fingerlin, Ivana Yang, Brian O'Connor, Elliott Crouser

Voting

1 net vote
3 up votes
2 down votes
Active

Goal 2: Reduce Human Disease

Improving the Detection and Treatment of Cardiac Sarcoidosis

Sarcoidosis afflicts young adults, particularly African Americans and females, and often causes chronic disability or death. Cardiac sarcoidosis (CS) was once considered to be a rare disease manifestation; however, with the development of improved diagnostic testing procedures, such as MRI and PET scans, CS is now known to afflict up to 40% of sarcoidosis patients and is recognized as a major cause of death. The current ...more »

Submitted by (@elliott.crouser)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Critical Challenge (CC)

Details on the impact of addressing this CQ or CC :

Improved detection of cardiac sarcoidosis (CS) is necessary to screen for CS in the sarcoidosis population and to identify those patients requiring further testing and personalized treatments. The optimal CS detection tool would be able to quantify the burden of cardiac disease, and would provide insight into disease activity (e.g., acutely active/reversible versus inactive/irreversible cardiac disease). Once validated, the CS detection tool would be used to risk stratify patients for the purpose of initial and subsequent treatments.

Feasibility and challenges of addressing this CQ or CC :

Current and evolving imaging techniques have rapidly improved the detection of sarcoidosis, so these technologies are feasible. However, it is unclear how to interpret the results of these novel imaging techniques in the context of treating humans with sarcoidosis. A number of challenges remain (e.g., how to distinguish active from inactive cardiac sarcoidosis, and how to objectively assess disease severity as relates to the risk of serious adverse cardiac events). A strength of this project being that this field is poised for clinical investigations designed to improve cardiac sarcoidosis detection and treatment using existing technologies.

Name of idea submitter and other team members who worked on this idea : Elliott Crouser, Subha Raman, Nabeel Hamzeh, Lisa Maier

Voting

-4 net votes
2 up votes
6 down votes
Active

Goal 2: Reduce Human Disease

Cardiac Sarcoidosis

There is a fundamental gap in our knowledge about many aspects of cardiac sarcoidosis. Isolated cardiac involvement poses a particular challenge for diagnosis. Delay in establishing the correct diagnosis can be long and impacts in outcome since delay in therapy adversely impacts on outcome in these patients. There should be an increased effort to increase our knowledge about cardiac sarcoidosis; it's natural history, ...more »

Submitted by (@fbogun)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Critical Challenge (CC)

Details on the impact of addressing this CQ or CC :

If there is shortening of the delay in diagnosis, this would have a tremendous impact on outcome.

If there is improvement in risk stratification this would also improve outcome. Better knowledge of the natural history may allow earlier detection of cardiac involvement and prevention of major cardiac complications of cardiac involvement

Feasibility and challenges of addressing this CQ or CC :

This is a "rare disease" but there are registries that have patient populations that may be sufficient to address some of the challenges of "rare diseases". Not enough funding is currently dedicated to these "rare" diseases to improve some of the parameters indicated (delay in diagnosis).

Name of idea submitter and other team members who worked on this idea : Frank B.

Voting

-1 net votes
1 up votes
2 down votes
Active

Goal 2: Reduce Human Disease

Sarcoidosis disease course

Why is sarcoidosis self-limited in some individuals and progressive in others?

Submitted by (@nhlbiforumadministrator)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Compelling Question (CQ)

Name of idea submitter and other team members who worked on this idea : NHLBI Staff

Voting

-7 net votes
7 up votes
14 down votes
Active

Goal 2: Reduce Human Disease

Sarcoidosis Awareness

I don't understand why that with so many people suffering and there is still no cause or cure. This disease isn't a new disease and it is still having trouble getting recognized by The Government who make the very ill work instead of giving them the disability they deserve. I understand that Cancer is a horrible disease, but having Sarcoidosis can be just as bad as a sentence as having cancer. Live one day in my body. ...more »

Submitted by (@fjr311)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Critical Challenge (CC)

Details on the impact of addressing this CQ or CC :

We are a non profit organization that is trying to raise money for Sarcoidosis Patients who can't afford their medicines and other financial obligations, due to many can't work because the disease takes their body away from them and limits them.

Sarcoidosis (pronounced SAR-COY-DOE-SIS) is an inflammatory disease that can affect almost any organ in the body. It causes heightened immunity, which means that a person’s immune system, which normally protects the body from infection and disease, overreacts, resulting in damage to the body’s own tissues. The classic feature of sarcoidosis is the formation of granulomas, microscopic clumps of inflammatory cells that group together (and look like granules, hence the name). When too man y of these clumps form in an organ they can interfere with how that organ functions.

In people of the United States, sarcoidosis most commonly targets the lungs and lymph nodes, but the disease can and usually does affect others organs, too, including (but not limited to) the skin, eyes, liver, salivary glands, sinuses, kidneys, heart, the muscles and bones, and the brain and nervous system.Locally, nationally and internationally, Sarcoidosis of Long Island is a charitable organization to provide emotional,and financial assistance to individuals living with Sarcoidosis as well as partnering with other organizations to help find a cure. There are many people with Sarcoidosis that can't get disability because it is not recognized as a disability.

Feasibility and challenges of addressing this CQ or CC :

I just want to let everyone know that no matter how hard it has affected my life, I will keep a smile on my face. Even though I am on disability, I know that it may have changed my life but it won’t run my life. I refuse to give into this disease, don’t get me wrong there are days where I cry and ask why me.I just answer myself by saying God only gives you what you can handle. I use a cane now and then but that doesn’t define me. What defines me is the strength to carry on. Sarcoidosis is what I have not what I am! My mission in life is to help others with diseases that on the outside you look fine, but on the inside the pain is unbearable.In December of 2013 I ended up having another surgery to fix the mesh of the hernia so that makes a total of 6 surgeries in 3 years. But I am still here kicking and fighting.

My Sarcoidosis thoughts as I live and move forward with this disease.

I know that I am not perfect and will never be, but I do know one thing. I would do as much as I could to help others anyway legal. I am not trying to put myself on a pedestal, but us as a "Sarkie" nation, which many of us do, need to get together and get this whole movement working together. We are all in it for the right reasons, now let's keep the momentum going so we can all get this disease controlled and then see it go to the waste side.Good news is in April Sarcoidosis of Long Island is going to be working with The Town of Brookhaven for a walk through Beautiful and Historic Stony Brook.

Name of idea submitter and other team members who worked on this idea : Frank Rivera- Sarcoidosis of Long Island

Voting

3 net votes
5 up votes
2 down votes
Active

Goal 2: Reduce Human Disease

I challenge you to invest money and research into a cure for Sarcoidosis

My critical challenge is for you to find a cure for Sarcoidosis.

Submitted by (@tcrawford)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Critical Challenge (CC)

Details on the impact of addressing this CQ or CC :

Sarcoidosis is so poorly understood. Patients suffer in silence with little or no help from the medical community. In order to manage their disease process, patients are forced to see numerous doctors to address the different organs affected by this disease. Patients are expected to work, while struggling with fatigue, pain and other symptoms. They are expected to complain little. If they complain too much, they are labeled problem patients. A cure for this disease must be pursued.

Feasibility and challenges of addressing this CQ or CC :

The challenges associated with addressing this critical challenge is that the disease varies greatly among the affected patients. Money is also a huge issue. The fact that this disease is viewed as primarily affecting minorities and as only a disease of the lungs are huge hurdles in anyone having a desire to pursue a cure.

Name of idea submitter and other team members who worked on this idea : Tara Crawford

Voting

-4 net votes
4 up votes
8 down votes
Active

Goal 2: Reduce Human Disease

Rare Lung Diseases/Sarcoidosis

To delineate if sarcoidosis pulmonary and extrapulmonary disease reflect the same immunophenotypes.

Submitted by (@nhlbiforumadministrator)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Compelling Question (CQ)

Details on the impact of addressing this CQ or CC :

As you know, sarcoidosis is a granulomatous disease of unknown etiology, characterized by disparate clinical outcomes. Its pathogenesis is a multifactorial process, characterized by dysregulation of T lymphocyte function and Th-1 cytokine expression. Systemic defects in IL-2 and IFNy expression in sarcoidosis have been well-described" 2 Reductions in the cytokine IL-2 and its mediator, lymphocyte-specific protein tyrosine kinase (p56Lck), correlate with disease severity", Also, CD4+ and CD8+ T cells, as well as B cell lymphopenia is associated with disease severity", These observations are particularly important because loss of adaptive immunity and reduced Lck expression has been associated with disease progression among granulomatous disease.

Name of idea submitter and other team members who worked on this idea : ATS Member

Voting

3 net votes
3 up votes
0 down votes
Active

Goal 2: Reduce Human Disease

Education of Doctors about Sarcoidosis

It is very difficult to find doctors that are educated in Sarcoidosis. Some think its not big deal, patients are hypochondriacs, looking for attention etc. How do we get the doctors to learn more about Sarcoidosis to better help their patients who live with this.

Submitted by (@lindajohns)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Compelling Question (CQ)

Details on the impact of addressing this CQ or CC :

I think that patients with Sarcoidosis with better informed doctors would receive better treatment ideas and options.

Feasibility and challenges of addressing this CQ or CC :

You have to start somewhere. Since doctors are who will help those with Sarcoidosis I feel that is where it needs to start.

Name of idea submitter and other team members who worked on this idea : Linda Johns

Voting

-6 net votes
8 up votes
14 down votes
Active