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| Name | Class |
|---|---|
| Pfizer | INDUSTRY |
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We carry out a prospective non-interventional, longitudinal, observational multicentre registry designed to improve our understanding of the epidemiology of TTR amyloidosis in our country. The main objective of the proposed study is to determine the occurrence of TTR amyloidosis and describe clinical profile of patients in the population of our country.
Demographic information, TTR genotype, medical history, family history of the disease, and transplant history are assessed at baseline. On return visits, signs and symptoms of the disease are evaluated, general examinations are conducted, and laboratory data, measures of neurologic and cardiovascular function, and quality of life are assessed according to the standard of care for patients.
Specific Aims and Hypotheses
Our working hypotheses are:
In aim 2. we will determine and characterize high frequency TTR mutations in the population of our country.
In aim 3. we will determine a clinical profile of patients and we will try to enhance understanding of the natural history of TTR amyloidosis, including the variability, progression of the disease, and predisposing factors. We will evaluate patients' quality of life.
In aim 4. we will search for genotype-phenotype relationship in hereditary TTR amyloidosis.
In aim 5. we will evaluate effects of liver transplantation and other treatments on disease progression in our patients. We will advance knowledge of the disease to optimize the assessment, treatment and monitoring of patients.
In aim 6. we will formulate novel hypotheses for further prospective studies. We will form a community of medical experts on amyloidosis (cardiologists, neurologist, internal medicine physicians, as well as other specialists) to create in the future national centre of amyloidosis in our country that would offer the highest standard of care and gather clinical data on this rare disease.
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| Measure | Description | Time Frame |
|---|---|---|
| disease progression | Signs and symptoms of the disease are evaluated, general examinations are conducted, and laboratory data, measures of neurologic and cardiovascular function, and quality of life are assessed according to the standard of care for patients. | From enrollment for at least 12 month |
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Inclusion Criteria:
Exclusion Criteria:
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All individuals with wild-type TTR amyloidosis and patients with a confirmed TTR mutation with or without a diagnosis of TTR amyloidosis will be eligible to be enrolled in the registry. Enrolment is voluntary and dependent on each subject's written informed consent.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| National Institute of Cardiology | Warsaw | 04-628 | Poland |
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| ID | Term |
|---|---|
| D028227 | Amyloid Neuropathies, Familial |
| C567782 | Amyloidosis, Hereditary, Transthyretin-Related |
| ID | Term |
|---|---|
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D017772 | Amyloid Neuropathies |
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| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D028226 | Amyloidosis, Familial |
| D008661 | Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D000686 | Amyloidosis |
| D057165 | Proteostasis Deficiencies |