Chapter 1-3 Flashcards
In the US, a disease is considered rare when
affects fewer than 200,000
Patients with rare diseases comprise 1 out of every _______ Americans and _________ of the European Union (EU) population.
10; 6% to 8%
Approximately 80% of rare diseases may have or be caused by which factor?
Genetic changes
Which of the following are key characteristics of rare diseases? (Select all that apply.)
A. They are characterized by consistent signs and symptoms that are common among most rare diseases.
B. They are characterized by relatively common symptoms that can hide underlying rare diseases leading to misdiagnosis and delayed treatment.
C. They are often chronic, progressive, degenerative, and life-threatening.
D. They often have a definitive cure.
B. They are characterized by relatively common symptoms that can hide underlying rare diseases leading to misdiagnosis and delayed treatment.
C. They are often chronic, progressive, degenerative, and life-threatening.
Which of the following is NOT a common challenge of rare diseases?
A. Inequities and difficulties in accessing treatment and care
B. Substantial economic impact for patients and their families
C. Overwhelming volume of scientific data about the disease
D. Delayed diagnosis and/or misdiagnosis
C. Overwhelming volume of scientific data about the disease
Challenges to managing rare diseases include which of the following? (Select all that apply.)
A. Treatments are often not available
B. Treatments may be costly
C. Lack of clinical guidelines for most rare diseases
D. Few prescribers are knowledgeable about or comfortable with managing therapies for rare diseases
All
Incentives for the development of treatments for rare disease introduced in the 1983 Orphan Drug Act (ODA) include which of the following? (Select all that apply.)
A. Seven years of market exclusivity for an approved orphan drug
B. Patent protection for an approved orphan drug formulation for 30 years
C. Tax credits of up to 50% for certain clinical testing expenses for companies whose product obtains an orphan drug designation from the US Food and Drug Administration (FDA)
D. Exemption from Phase 2/3 pivotal clinical testing requirements due to the few numbers of eligible patients
A. Seven years of market exclusivity for an approved orphan drug
C. Tax credits of up to 50% for certain clinical testing expenses for companies whose product obtains an orphan drug designation from the US Food and Drug Administration (FDA)
The European Union was the first region in the world to pass orphan drug regulations and incentives.
False
Which of the following statements best describes the goals of Therapeutics for Rare and Neglected Diseases (TRND) program?
A. Create an integrated research pipeline to help encourage and accelerate the development of new treatments for rare and neglected disorders
B. Develop interdependent healthcare networks to help aid patients get access to healthcare providers with expertise in rare and neglected disorders
C. Create a consortium of pharmaceutical and biotech companies to assist patients with the cost of orphan drugs for the treatment of rare and neglected disorders
D. Develop continuing medical education (CME) for healthcare providers to increase awareness of rare and neglected disorders and their treatment
A. Create an integrated research pipeline to help encourage and accelerate the development of new treatments for rare and neglected disorders
Typically, diseases are considered “neglected” because __________.
although they may inflict severe health burdens in developing countries, they are not seen as a public health priority in more industrialized countries
When is Rare Disease Day® held each year?
Last day in February
Which of the following is a patient advocacy group “dedicated to individuals with rare diseases and the organizations that serve them”?
A. Therapeutics for Rare and Neglected Diseases (TRND)
B. National Organization for Rare Disorders (NORD)
C. American Autoimmune & Related Diseases Association, Inc. (AARDA)
D. Global Rare Disease Project (GRDP)
B. National Organization for Rare Disorders (NORD)
Common characteristics of rare diseases
Key characteristics of rare diseases include:
• a wide diversity of signs and symptoms that vary not only from disease to disease but also from patient to patient
• not limited to a particular organ group or specialty area, age, or patient demographic
• characterized by relatively common symptoms
• often chronic, progressive, degenerative, and life-threatening
• can be disabling; quality of life of patients is often compromised by lack or loss of autonomy
• potentially painful, causing suffering for the patient and their family
• are frequently without a known cure
Define rare disease
is any disease that affects a small percentage of the population. In the United States, a disease or disorder is defined as rare when it affects fewer than 200,000 people in the country at any given time. In Europe, a disease or disorder is defined as rare when it affects fewer than 1 in 2,000 people.
Common challenges of patients with rare disease
Challenges of rare diseases include:
• barriers to diagnosis, such as the fact that relatively common symptoms can hide underlying rare diseases, can lead to misdiagnosis and/or a delay in diagnosis, and therefore, delayed treatment or lack of appropriate treatment (if available)
• the scarcity of available treatments for rare disease
• limited scientific understanding of the disease
• lack of quality information about the disease for patients and their families
• heavy social consequences for patients and their families
• substantial economic impact for patients and their families
• inadequate healthcare
• inequities and difficulties in accessing treatment and care
Common challenges of healthcare providers
healthcare provider’s unawareness of rare diseases and their inability to provide optimal care
• treatments not available, or when available, may be costly
• insurance or other access barriers to obtaining treatment
• lack of clinical guidelines for vast majority of rare diseases
Incentives of the Orphan Drug Act (1983)
7 years of market exclusivity for an approved orphan drug and tax credits of up to 50% for certain clinical testing expenses for companies whose product obtains an orphan drug designation from the US Food and Drug Administration (FDA).
Identify diseases that can directly or indirectly impact the lungs causing ILD
- Idiopathic pulmonary fibrosis (IPF)
- Systemic sclerosis (SSc)
- Polymyositis (PM) and dermatomyositis (DM)
- Mixed connective tissue disease (MCTD)
- Hypersensitivity pneumonitis (HP)
- Asbestosis
Which of the following statements best describes the primary function of the respiratory system?
A. Obtains CO2 for the body and removes O2 from the body
B. Regulates acid base balance in the blood
C. Obtains O2 for the body and removes CO2 from the body
D. Filters unwanted physical and chemical substances
Obtains O2 for the body and removes CO2 from the body
