Showing 5 ideas for tag "insufficiency"

Goal 3: Advance Translational Research

DEVELOPMENT OF BIOMARKERS FOR SLEEP INSUFFICIENCY, CIRCADIAN DISRUPTION AND SLEEP DISORDERS trending idea

There is an urgent need to develop quantifiable biomarkers for acute sleep loss, chronic sleep insufficiency, circadian disruption and sleep disorders such as obstructive sleep apnea. These problems are highly prevalent but currently we do not have biomarkers to use for case identification, prognosis, or assessing response to therapy. There are currently small studies that indicate the feasibility. A recent workshop... 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

The following will be the impact of addressing this critical challenge:

  1. Having an assessment that can be used following a crash to assess the level of sleep loss of the driver.
  2. Having a method to assess chronic sleep insufficiency as a potential pathogenetic process in patients with cardiovascular disease, hypertension, etc.
  3. Having a method to estimate circadian phase so that in patients with chronic insomnia one can identify individuals with delayed sleep phase.
  4. Having a technique to establish magnitude of circadian disruption to assess its role in pathogenesis of diseases such as cardiovascular disease.
  5. Add a molecular biomarker to other techniques to screen for obstructive sleep apnea in high risk populations such as obese commercial drivers.
  6. Utilize a biomarker signature to identify who with obstructive sleep apnea will be particularly at risk for downstream consequences such as cardiovascular disease.
  7. Develop the equivalent of HbA1C to assess therapeutic response to CPAP
Feasibility and challenges of addressing this CQ or CC

The first challenge is to identify a signature for each of these use cases. This will require initial studies in a small number of well phenotyped subjects with all the “-omic” techniques. Thereafter, these multiple cohorts, already available with blood samples, etc. and relative phenotype can be used for validation purposes.

Name of idea submitter and other team members who worked on this idea Sleep Research Society

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240 up votes
61 down votes
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Goal 2: Reduce Human Disease

Developing Standards of Care for adult muscular dystrophy (FSHD, DM) patients affected by hypercarbic respiratory insufficiency

There is an unmet need for the NHLBI to foster basic, preclinical and clinical research on the pulmonary consequences of respiratory insufficiency, and specifically with hypercarbic (high CO2) respiratory insufficiency, in facioscapulohumeral muscular dystrophy (FSHD) and other adult muscular dystrophies. The adult muscular dystrophies have received insufficient attention, both from research and clinical practice perspectives.... more »

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

Feasibility and challenges of addressing this CQ or CC

As with cardiomyopathy and arrhythmia, currently little data is available as to how to best measure/monitor, and when and how to intervene in, the respiratory complications of the adult muscular dystrophies (FSHD, DM, LGMD) using respiratory therapy, non-invasive ventilation (bi-Pap, Trilogy) or ventilation. The absence of home-based sleep studies and technologies to easily assess hypercapnia are identified as a significant gap in knowledge. Additionally, since the cardiac and pulmonary hypercarbic respiratory insufficiency complications are inextricably linked, studies of the interrelationship between cardiac and pulmonary consequences of the muscular dystrophies (congestive heart failure, pulmonary hypertension) are needed, and interdisciplinary teams of researchers may be best equipped to conduct them.

Name of idea submitter and other team members who worked on this idea FSH Society

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-11 net votes
4 up votes
15 down votes
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Goal 3: Advance Translational Research

Develop guidelines, standard of care, new technologies for respiratory care for adult facioscapulohumeral muscular dystrophy

There is a need for NHLBI to develop guidelines, standard of care, new technologies for respiratory care for adult muscular dystrophy (facioscapulohumeral, myotonic and limb girdle) patients with undiagnosed or unforeseen hypercarbia CO2 retention in the acute setting who end up in trouble to help the families, doctors and patients navigate their way back to stable condition e.g. perhaps going forward with non-invasive... 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

Prolonged and healthier lives. Lower costs and disease burden.

Name of idea submitter and other team members who worked on this idea FSH Society

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

Does non-invasive ventilation (Bi-Pap) improve quality of life and muscle health in FSHD patients

What is the difference in quality of life and functioning in adult facioscapulohumeral muscular dystrophy patients who are on non-invasive ventilation Bi-Pap versus age matched FSHD patients not on ventilation in a long term longitudinal study?

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

Details on the impact of addressing this CQ or CC

There is an unmet need for the NHLBI to foster basic, preclinical and clinical research on the pulmonary consequences of respiratory insufficiency, and specifically with hypercarbic (high CO2) respiratory insufficiency, in facioscapulohumeral muscular dystrophy (FSHD) and other adult muscular dystrophies.

Feasibility and challenges of addressing this CQ or CC

The adult muscular dystrophies have received insufficient attention, both from research and clinical practice perspectives. As with cardiomyopathy and arrhythmia, currently little data is available as to how to best measure/monitor, and when and how to intervene in, the respiratory complications of the adult muscular dystrophies (FSHD, DM, LGMD) using respiratory therapy, non-invasive ventilation (bi-Pap, Trilogy) or ventilation. The absence of home-based sleep studies and technologies to easily assess hypercapnia are identified as a significant gap in knowledge. Additionally, since the cardiac and pulmonary hypercarbic respiratory insufficiency complications are inextricably linked, studies of the interrelationship between cardiac and pulmonary consequences of the muscular dystrophies (congestive heart failure, pulmonary hypertension) are needed, and interdisciplinary teams of researchers may be best equipped to conduct them.

Name of idea submitter and other team members who worked on this idea FSH Society

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-9 net votes
8 up votes
17 down votes
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Goal 2: Reduce Human Disease

What causes variation in severity of skeletal muscle, lung, pulmonary and heart system symptoms in FSHD muscular dystrophy

Loss of diaphragm function and impaired respiration is a leading driver of morbidity and mortality in the adult muscular dystrophies such as facioscapulohumeral muscular dystrophy, and therefore requires additional study

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

Details on the impact of addressing this CQ or CC

Muscular dystrophies comprise a heterogeneous group of genetic diseases often characterized by multi-systemic effects and distinct patterns of muscle involvement. While a characteristic pattern of muscle weakness has traditionally been used to define the different subtypes of muscular dystrophy, the cause for the regional distribution of muscle weakness, often with sparing of specific muscle groups, has largely remained unresolved. Moreover, many muscular dystrophies such as the most common form facioscapulohumeral muscular dystrophy, show noticeable variation in disease onset and progression, both between as well as within families. Involvement of the diaphragm and muscles of respiration often proceeds at a rate different from other striated muscles. Loss of diaphragm function and impaired respiration is a leading driver of morbidity and mortality in the muscle diseases, and therefore requires additional study in adult muscular dystrophy.

Feasibility and challenges of addressing this CQ or CC

Studies in mice and humans have provided some evidence for genetic modifiers of disease onset, presentation and progression, but a comprehensive explanation for the observed differences in skeletal muscle, lung, pulmonary and heart system involvement and disease progression is currently lacking. Disease penetrance may be affected by genetic background or gene-environment interactions. Future studies on the identification and validation of such factors, both genetic and non-genetic (off target effects of drugs, diet, exercise), may provide insight into strategies that delay disease onset, prevent off-target effects of drugs and improve quality of life.

Name of idea submitter and other team members who worked on this idea FSH Society

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-10 net votes
6 up votes
16 down votes
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