Showing 7 ideas for tag "rare"

Goal 2: Reduce Human Disease

Rare Disease Registry

NHLBI should establish a rare disease registry.

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While we agree that some registries of the past had limited utility, state of the art registries of today are different. Registries of rare diseases need support. If left to the foundations and CTSA awards, many of these registries can capture clinical and physiologic data, but struggle to fund radiological repositories and biorepositories that can capture genomic data. When I look at the landscape of those lung diseases that have nothing, the list is very long. “Idiopathic” Fibrotic NSIP, acute interstitial pneumonia, rheumatoid interstitial lung disease, acute and chronic eosinophilic pneumonia, cryptogenic organizing pneumonia, aspiration associated lung disease, radiation pneumonitis, eosinophilic bronchitis, mycobacterium avium complex, hepatopulmonary syndrome, and Churg-Strauss vasculitis while individually very rare make up 3-5% of all lung diseases. If we put 3-5% of the Lung Division budget into these diseases, the impact would be huge. Meaningful impact would include a mentorship program for patient foundations, CTSA directed collaborative biorepositories, a Rare Lung Disease Centers of Excellence program (possibly modeled after the NIH program in diseases of unknown cause), and a conference structure that is funded as a core component of the Lung Division budget. Most important is to assure that linkage to the patients who participate is assured after the collection of the biosamples is obtained.

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To the extent that you might influence NIH politics, one important impediment to this science is the inability of the NIH to keep and sustain patient identifiers. If the IRS can do it, why can’t NIH? Although I realize that this last part is out of your personal control, an internal registry mechanism sponsored by the NHLBI would transform the landscape of the institute for rare disease science. It would solve the problems associated with internal registries being unable to join with other international endeavors (NIH LAM Registry for example).

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Goal 2: Reduce Human Disease

Hosting International Studies on Rare Diseases

A programmatic initiative that would transform the NHLBI for rare diseases is to host some international studies.

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

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The rest of the world is far ahead of the US in Registry science (e.g.. OrphaNet). To take a very rare disease (e.g.. Bechet’s pulmonary aneurysms, or hypocomplementemic urticarial vasculitis associated COPD) and establish an RFA to blend an international Registry with capability for hosting a clinical trial, and 3 years later an RFA to use the biorepository for proof of principal studies and a clinical trial would accelerate the international science agenda to a degree that might be unimaginable. Once established for 1 disease, the infrastructure should be kept intact for other diseases.

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Goal 2: Reduce Human Disease

Rare Diseases

A study section should be seated for clinical trials on rare disease. Members of this study section should consist only of individuals who have previously performed phase I and/or phase II trials, developed IND or IDE applications, or who have extensive experience in informatic or biometric support for clinical trials. My opinion is that seating individuals on these sections who have a laboratory career in cellular or... more »

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Goal 2: Reduce Human Disease

Interaction with Office of Rare Diseases

NHLBI should engage more interactively with the Office of Rare Diseases (ORD).

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

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There is a synergy that comes with collaboration with rare disease clinical science from other institutes. Some of this synergy is scientific, much of it falls into the support engendered to the patient support groups that are partners in filling the funding gap that many NHLBI initiatives have.

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To go it alone in rare disease dissociates the lung disease clinicians from the huge movements in registry science that will impact the field for years to come.

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Goal 2: Reduce Human Disease

How can the study of rare diseases inform our understanding of common diseases?

How can the study of rare diseases inform our understanding of common diseases?

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 Research Advocacy Committee, American Thoracic Society

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Goal 2: Reduce Human Disease

Rare Disease Biorepository

NHLBI should establish a rare disease biorepository that can be used by PhD and MD scientists, and propose new therapies based on the insights gained.

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

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If you think about improving rare disease treatment, any clinical trial is better than no clinical trial. Although I make this point in jest, the important aspect is that the control group is actually as important as the treatment group in establishing the natural history of the disease, establishing a biorepository that can be used by PhD and MD scientists, and proposing new therapies based on the insights gained. I would use as an example the current GRADS program in sarcoidosis and Alpha-1 antitrypsin deficiency. My prediction is that we will find rather minor microbiome elements of disease pathogenesis (it is worth looking). However, the integrated genomics aspects of the protocols will be useful for a decade to stimulate discovery.

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Goal 2: Reduce Human Disease

Rare disease therapeutics high throughput screening

Can we develop model systems for the high throughput screening of new and existing agents as possible therapies for rare diseases?

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

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