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| Name | Class |
|---|---|
| Engage Health Inc. | INDUSTRY |
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The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.
This will be a cross-sectional study conducted in approximately 130 individuals (or representative parents/caregivers of patients) living with Fabry disease. All study participants will complete the RSVP followed by a structured interview conducted by trained interviewers. It is estimated that each respondent will need up to 60 minutes for the entire process; 10 minutes to complete the RSVP including uploading the proof of Fabry disease diagnosis or verifying membership with Fabry groups, including but not limited to: Fabry Support and Information Group, National Fabry Disease Foundation, MPS Society UK, Morbus Fabry Selbsthilfergruppe, Fabry International Network, or others, and approximately 50 minutes to complete the interview.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| ERT User- Did Not Switch to Galafold | ERT users with mutation amenable to Galafold who did not switch |
| |
| ERT User- Switched and Stayed on Galafold | ERT users with the mutation amenable to Galafold who switched and stayed on Galafold |
| |
| No Previous Therapy- Started Galafold and Stayed On | Those naïve to therapy with the mutation amenable to Galafold who went on and stayed on Galafold |
| |
| No Previous Therapy- No Current Therapy | Those who were naïve to therapy with the mutation amenable to Galafold and have never been on any therapy. |
| |
| ERT Users- Switched and Discontinued Galafold | Participants who are ERT users with an amenable mutation who switched to and later discontinued Galafold |
| |
| No Previous Therapy- Started Galafold and Discontinued |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| This is a non-interventional study | Other | This is a non-interventional study |
|
| Measure | Description | Time Frame |
|---|---|---|
| Patterns and Trends that Provide Evidence and Context for the Treatment Choices and Experiences of Those with Fabry Disease | The goal of the statistical analysis is to uncover patterns and trends that provide both evidence and context for the treatment choices and experiences of patients and families impacted by Fabry disease. All findings will be summarized in the final report, which will not identify any respondent as described above. At the conclusion of this study, the researchers may publish their findings in a medical / scientific journal. | 1-2 months |
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Inclusion Criteria:
Exclusion Criteria:
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Purposive sampling techniques will be used which will seek to initially recruit 30 participants (person with Fabry or their parent/legal guardian) from each of four groups noted below:
There will also be an attempt to recruit 5 patients from each of the two groups:
In order to get a geographic sampling, the first four groups will attempt to recruit 30 patients/parents or caregivers of patients with representation from Germany, the UK, and the US.
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| Name | Affiliation | Role |
|---|---|---|
| Niloofar Nobakht, MD | Ronald Regan UCLA Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Engage Health | Eagan | Minnesota | 55121 | United States |
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| Label | URL |
|---|---|
| Galafold and Fabry Disease | View source |
| Review of Fabry Disease | View source |
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The pseudonymized answers provided by each respondent will be combined with those of others participating in the study and the pseudonymized database (Excel format) will be locked and provided to Engage Health personnel for analysis ("Study Data"). The goal of the statistical analysis is to uncover patterns and trends that provide both evidence and context for the treatment choices and experiences of patients and families impacted by Fabry disease.
All findings will be summarized in the final report, which will not identify any respondent as described above. At the conclusion of this study, the researchers may publish their findings in a medical/scientific journal.
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| D007007 | Hypohidrosis |
| D011507 | Proteinuria |
| D000794 | Angiokeratoma |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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Participants who are naïve to therapy with an amenable mutation, went on Galafold, and discontinued |
|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D013543 | Sweat Gland Diseases |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D014555 | Urination Disorders |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D020924 | Urological Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D009383 | Neoplasms, Vascular Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |