Showing 12 ideas for tag "sickle"

Goal 3: Advance Translational Research

Bone Marrow Stem Cell Transplant in Peds sibling matched SCD

There is a need to improve accessibility of Bone Marrow Stem Cell Transplantation (BMSCT) for Sickle Cell Disease patients who are most likely to benefit from this treatment option.

1. Building a culture of trust between and among primary care providers, specialists, patients/families, and other stakeholders

2. Consensus building around BMSCT as an acceptable treatment alternative (as opposed to another research endeavor)... more »

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

Details on the impact of addressing this CQ or CC
  1. It could potentially decrease the prevalence of SCD and significantly decrease the overall morbidity and mortality associated with SCD in children with matched sibling donors.
  2. It could increase the awareness of health professionals who have a low awareness of the role of BMSCT in the treatment and cure of SCD (i.e., those in rural areas)
  3. It can improve patient/family access to information and communications to facilitate informed discussion and choice for all SCD treatment options
  4. It could open the gateway for more therapeutic applications for other genetic diseases
Feasibility and challenges of addressing this CQ or CC
  1. The science in this has evolved substantially such that BMSCT is a viable therapeutic option with reduced morbidity and mortality in the sibling matched population
  2. There is an opportunity to broaden current collaborations with other agencies and the BMSCT community to expand the accessibility of their research forward.
  3. Other agencies are emphasizing work in the area of BMSCT particularly for hemoglobinopathies.

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

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52 net votes
80 up votes
28 down votes
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Goal 3: Advance Translational Research

Allogeneic transplantation as a safe and universally available therapeutic strategy for treating non-malignant blood diseases

Can new advances in allogeneic blood or marrow transplantation (BMT) make the procedure a safe and universally available therapeutic strategy for treating non-malignant blood and immune disorders such as sickle cell anemia, thalassemia, aplastic anemia, and severe combined immune deficiency?

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

Details on the impact of addressing this CQ or CC

The ability of allogeneic blood or marrow transplantation (BMT) to cure diverse non-malignant diseases is well-documented. However, widespread use in diseases such as sickle cell anemia that cause substantial morbidity and shorten life but are not immediately life-threatening, has been limited by transplant-related toxicity and mortality especially in the majority of these patients who lack HLA-matched donors. Several new therapeutic approaches now exist that are promising strategies, separately or in combination, for addressing issues of donor availability, graft rejection, organ toxicity and acute and chronic graft-versus-host disease more effectively. Evaluation and refinement of these therapeutic strategies in both preclinical and Phase I-III clinical trials now offers a real possibility that allogeneic BMT could be applied early in the course of these diseases, allowing normal growth, development, quality of life and lifespan. If successful, allogeneic BMT offers a major advantage over gene therapy approaches even if such approaches become possible in the future; i.e., allogeneic BMT can be done with low-dose, non-toxic conditioning while gene therapy requires high-dose myeloablative therapy which not only can be toxic/fatal to these patients who often have end-organ dysfunction but also universally induces infertility, a major concern of patient groups who usually survive beyond child-bearing years.

Feasibility and challenges of addressing this CQ or CC

There are now single institution and registry (CIBMTR) data showing that related haploidentical allogeneic BMT using post-transplantation cyclophosphamide (PTCy) produces results similar to those seen with HLA-matched sibling donors. Accordingly, every patient in need of allogeneic BMT now can safely undergo the procedure, including those ethnic groups (such as African-Americans and Hispanics) who are unlikely to find a donor in unrelated registries. Combining PTCy with other approaches for preventing graft-versus-host disease (GVHD) can even eliminate GVHD and transplant-related mortality. Although recurrence of malignant diseases remains an issue, especially as GVHD is eliminated, relapse is not a concern for non-malignant diseases after successful allogeneic engraftment. Moreover, the average cost of allogeneic BMT, about $150K, is a cost-savings over the long-term management of many of these diseases. The NHLBI-funded BMT Clinical Trials Network (CTN) has developed the infrastructure to rapidly and efficiently carry out large multi-institutional BMT trials. Over the last 15 year, thousands of patients have been entered on BMT CTN trials. Of note, African-Americans and Hispanics remarkably represent 30% of the accruals on one such trial, CTN1101, studying unrelated umbilical cord and related haploidentical allogeneic BMT. However, funding for the infrastructure for continuing this work remains problematic, since BMT trials generally lack corporate funding.

Name of idea submitter and other team members who worked on this idea Rick Jones

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164 net votes
214 up votes
50 down votes
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Goal 3: Advance Translational Research

Genome Editing and Gene Therapy

There is a critical need for the establishment of strategies that will determine the efficacy, safety, and toxicity of genome editing techniques specifically in hematologic diseases.

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

Details on the impact of addressing this CQ or CC

Inherited monogenic hematologic diseases such as hemophilia, beta-thalassemia and sickle cell disease are prime targets for future application of genome editing technology. However, studies are still needed to advance our understanding of the biology of genome editing as well as determine which other disorders are amenable to genome editing correction. Emphasis on preclinical research that focuses on determining the accuracy, safety and efficiency of this technology in order to help minimize off-target mutations and reduce toxicity, is essential for effective translation of this technology into the clinic. Once preclinical efficacy is established, support will be needed for clinical vector production, toxicity testing of the vectors/reagents used, and the performance of clinical trials. The gene correction strategies developed for inherited disorders will also be attractive for other hematologic diseases, and autoimmune disorders like lupus, rheumatoid arthritis, and type I diabetes). There is also a critical need for supporting preclinical validation studies, scale-up and GMP cell manufacturing, all of which could be shared infrastructures across multiple diseases in the NHLBI portfolio.

Name of idea submitter and other team members who worked on this idea Alice Kuaban on behalf of the American Society of Hematology (ASH)

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69 net votes
87 up votes
18 down votes
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Goal 3: Advance Translational Research

Dissemination & Implementation of new treatments and therapies in sickle cell disease

Are current advances in gene editing, new drug therapies and less restrictive BMT criteria being explained and rolled out to the sickle cell community in an effective and timely manner? When can people living with sickle cell disease experience a better quality of life on more permanent based on the treatments we already have?

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

Details on the impact of addressing this CQ or CC

Bone marrow transplant criteria has become less restrictive yet there has not been a steep increase in procedures. My understanding is that a sibling or child with the trait can be a donor. At some point this treatment needs to become more widely accessible and discussed with all patients by their doctors.

Name of idea submitter and other team members who worked on this idea Sickle Cell Warriors, Inc.

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46 net votes
55 up votes
9 down votes
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Goal 3: Advance Translational Research

Sickle Cell Trait complications

What are the factors leading to severe health consequences in the sickle cell trait population?

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

Details on the impact of addressing this CQ or CC

It has been reported for many decades that the sickle cell trait population are an asymptomatic group; however, there have been an increasing number of reports in the media and the medical literature suggesting the opposite.

Name of idea submitter and other team members who worked on this idea Sickle Cell Warriors, Inc. community members

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30 net votes
38 up votes
8 down votes
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Goal 3: Advance Translational Research

Financial and psycosocial impact of transition in sickle cell disease

What are the financial and social implications for individuals living with SCD from adolescence transitioning into adult care? What impact does this transition have on the caregiver and family as a whole?

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

Details on the impact of addressing this CQ or CC

It is very difficult for many living with SCD to maintain employment (many people have to rely on disability benefits to survive) finish school, even maintain relationships. Greater understanding of the financial and social impact would enable advocacy and direct patient service organizations to better prepare the transitioning population, reducing the financial strain on the individual and the growing medical debt incurred by hospitals and government social service programs.

Name of idea submitter and other team members who worked on this idea Sickle Cell Warriors, Inc. community members

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30 net votes
38 up votes
8 down votes
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Goal 3: Advance Translational Research

psychosocial care in sickle cell disease

What are the most effective trans-disciplinary and multi-level strategies for accelerating psychosocial care with sickle cell disease and how psychosocial factors impact families?

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

Details on the impact of addressing this CQ or CC

Since sickle cell has multiple layers in medical treatment strategies, how can the same thought process happen when it comes to psychosocial matters? How can the NHLBI develop effective patient engagement trans-disciplinary and multi-level strategies that work with medical strategies to deal with psychosocial matters for individuals and families?

Name of idea submitter and other team members who worked on this idea Sickle Cell Warriors, Inc community members

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38 net votes
46 up votes
8 down votes
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Goal 3: Advance Translational Research

Implementation science research to reduce adverse effects of SCD

From various publications and reports, we have characterized the risks associated with sickle cell disease (SCD) and understand many of the barriers for treatment of SCD in LMICs. How can implementation science research be used to reduce the negative outcomes of SCD in low/middle income countries?

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

Details on the impact of addressing this CQ or CC

• Reduction of deaths and negative outcomes associated with SCD and in LMICs
• Provide the evidence base that supports culturally relevant implementation strategies that reduce deaths associated with SCD in LIMCs

Feasibility and challenges of addressing this CQ or CC

• Yes
, this is feasible
• Common goals and deliverables between NHLBI and partners will need to be identified
• Partnerships can be with international organizations, Ministries of Health and other partners

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

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18 net votes
31 up votes
13 down votes
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Goal 3: Advance Translational Research

Sickle cell disease and fatigue

What factors, other than hemoglobin count, are involved in the extreme fatigue experienced by individuals living with sickle cell disease?

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

Details on the impact of addressing this CQ or CC

Many in the sickle cell community report continuous fatigue that interrupts their daily activities in spite of normal, or above baseline, hemoglobin levels

Name of idea submitter and other team members who worked on this idea Sickle Cell Warriors, Inc. community members

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17 net votes
29 up votes
12 down votes
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Goal 3: Advance Translational Research

Follow-up care for newborns diagnosed with sickle cell trait or disease

• There is a need to develop and support formal programs to provide follow-up care for newborns who test positive for the sickle cell trait or sickle cell disease upon screening. While newborn screening programs exist nationwide, healthcare providers report that often, screening is conducted only upon request (likely related to cost) and there is usually no follow-up afterwards. Interventions are also needed further... more »

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

Name of idea submitter and other team members who worked on this idea International Association of Sickle Cell Nurses and Physician Assistants, Inc.

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14 net votes
17 up votes
3 down votes
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Goal 3: Advance Translational Research

Implementation Science to Improve Care in Sickle Cell Disease

There are approximately 100,000 individuals living with sickle cell disease in the US, however study after study has shown that many lack access to the few existing evidence based interventions such as hydroxyurea. We need to investigate novel ways to increase acess to hematology care and disease modifying therapies.

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

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12 net votes
14 up votes
2 down votes
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Goal 3: Advance Translational Research

Improving Community-Based Care for Sickle Cell Disease

Sickle cell treatment centers are located throughout the United States, primarily in urban areas, and play an invaluable role. However, there is a critical need to identify and educate primary care providers who can provide routine and preventive care, but will also know when to consult with/refer to hematologists and other appropriate providers when necessary.

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

Details on the impact of addressing this CQ or CC

For the first time, comprehensive guidelines addressing the management of sickle cell disease were issued in 2014 by the NHLBI. (Previous guidelines were not comprehensive.) The 2014 guidelines, which address issues such as health maintenance and the treatment of acute and chronic complications, are based on a systematic review of available evidence; consensus of an expert panel; and published, vetted guidelines by other organizations when evidence was unavailable or insufficient. These guidelines can provide a solid overview of the knowledge essential for the care of people with sickle cell disease.

Identifying primary care providers who can provide routine and preventive care but at the same time are knowledgeable about sickle cell disease, should be a more efficient, less costly method of provide important health services to people with sickle cell disease and should ultimately improve the health and well being of this population, particularly for people who do not live near a sickle cell center.

Feasibility and challenges of addressing this CQ or CC

Addressing this question is very feasible. However, for a variety of reasons, including misconceptions about patients with the condition, it may be challenging to recruit large numbers of primary care providers.

Name of idea submitter and other team members who worked on this idea The Sickle Cell Association of New Jersey

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9 net votes
9 up votes
0 down votes
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