PRF By The Numbers
| PRF By The Numbers |
PRF By The Numbers is a data sharing tool originating from The Progeria Research Foundation’s programs and services. We translate information collected from within our programs and develop charts and graphs which track our progress year to year. This allows you to assess where we’ve been, and the improvements we’ve made for children with Progeria. According the National Institutes of Health: “data sharing is essential for expedited translation of research results into knowledge, products, and procedures to improve human health” (see NIH website). In other words, everyone benefits by knowing as much as possible about Progeria - the scientific and medical communities, the public, and the children.
Here’s how it works…
We take raw data collected through our programs and services, de-identify any personal information to protect the participant, and present it to you in a format that is engaging and informative. PRF programs and services include: the PRF International Registry, the PRF Diagnostics Program, the PRF Cell & Tissue Bank, and the PRF Medical & Research Database.
So dig in and enjoy PRF By The Numbers! We love suggestions - if you don’t see some facts and figures here that you think would be informative, please let us know.
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PRF By The Numbers Summary Data |
As of September 17, 2012:
- Number of living PRF-identified cases of HGPS* worldwide: 86
- Number of living PRF-identified cases
worldwide of Progeroid Laminopathies**:10
Countries - Number of countries: 34
- Number of Languages Spoken: 24
| Languages |
- Number of living PRF-identified cases of HGPS* in the
United States: 18
- Number of living PRF-identified cases of Progeroid Laminopathies** in the United States: 4
*Children in the HGPS category have a progerin producing mutation in the LMNA gene
** Children in the Progeroid Laminopathy category have a mutation in the Lamin pathway but do not produce progerin
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International Progeria Registry* Overview |
Program Goals: Serve as a springboard for program enrollment and outreach.
As of September 17, 2012:
| PRF International Registry |
♦ Number of children Registered with PRF: 172
| Countries |
♦ Countries of Origin: 41
*PRF International Registry includes those with genetically confirmed or clinically suspected Progeria, as well as those with other progeroid syndromes
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PRF Programs Opportunities |
Back to Top of Programs Recruitment Section
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PRF Diagnostics Program Overview |
Program Goals: Provide genetic testing to children with suspected Progeria in association with a CLIA-approved diagnostics lab, and provide a definitive diagnosis that can translate into earlier diagnosis, fewer misdiagnoses and early medical intervention to ensure a better quality of life for those affected.
As of September 17, 2012:
♦ Number of clinically affected people tested by PRF: 104
♦ Total testing Positive for Mutation on LMNA: 75
♦ Number of Parents/Siblings Tested: 29
♦ Number of Prenatal Tests: 3
♦ Number of children from Diagnostics Program who entered clinical drug treatment trials: 32
| PRF Diagnostics Program |
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The PRF Diagnostics Program Summary |
Back to Top of Diagnostics Program Section
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PRF Cell & Tissue Bank Overview |
Program Goals: Provide a resource for researchers worldwide, ensuring sufficient availability of genetic and biological materials that are essential for research aimed at understanding the pathophysiology of disease and the links between Progeria, aging and heart disease.
As of September 17, 2012:
| PRF Cell & Tissue Bank Program |
♦ Total Number of Cell Lines: 185
♦ Total Number of Fibroblast Lines: 63
♦ Total Number of Lymphoblast Lines: 113
♦ Total Number of iPS Cell Lines: 9
| Countries of Research Teams |
♦ Cells have been sent to 47 research teams in 9 countries:
♦ Total Number of Cell & Tissue Bank Participants: 168
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♦ Number of Affected participants: 97
◊ Number of Affected Cell Lines: 110
♦ Number of Parents/Siblings: 71
◊ Number of Parent/Sibling Cell Lines: 75
What we’ve learned
through research using the PRF Cell & Tissue Bank materials/lines:
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PRF Cell & Tissue Bank Publications |
♦ Since 2003, 33 articles have been published stemming from research using the PRF Cell & Tissue Bank resources.
| PRF Cell & Tissue Bank Publications |
Back to Top of Cell & Tissue Bank Section
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PRF Medical & Research Database Overview |
Program Goals: Collect the patient health records for living and deceased children with Progeria to obtain long-term clinical data, abstract data from these records for longitudinal and cross-sectional analyses, and draw upon this centralized source of health care information to:
- Better understand the clinical disease process in Progeria and aging related diseases
- Develop treatment strategies and recommendations for health care professionals and families
As of September 17, 2012:
| Countries |
Total Participants: 117 from 36 countries and 1 territory
Age Range at Time of Enrollment: 4 months -18 years
| PRF Medical & Research Database Program |
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PRF Medical & Research Database Summary |
- Project staff obtain the patient’s medical (including film studies), dental, PT/OT and school health records from birth throughout the participant’s lifespan, and perform periodic record collection to follow the course of disease.
- Retrospective data abstraction protocol allows for specifically targeted or broad spectrum of data.
| Retrospective Data: | |
| Medical Records: | 91 Participants |
| X-rays/Film Studies: | 53 Participants |
Data Abstracted from records: |
99 Participants |
| Prospective Data: | |
| Weight reports: | 77 Participants |
What we’ve learned
from the PRF Medical & Research Database:
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PRF Medical & Research Database Weighing-In Program* |
Weighing-In program collects weight-for-age data prospectively; parents weigh child weekly or monthly on scale provided by PRF and report weights electronically.
* The data from this program was key in the development of primary clinical parameters for the first drug treatment trial for Progeria.
♦ Number Enrolled in the PRF Weighing-In Program: 77
♦ Number of Countries: 29 and 1 territory
♦ Number of children from Weighing-In Program who entered clinical drug treatment trials: 42
| Countries |
What we’ve learned
from the Weighing-in Program:
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PRF Medical & Research Database Publications |
♦ Number of scientific publications stemming from PRF Medical & Research Database resources since 2003: 14
Including:
The Progeria Handbook. A Guide for Families & Health Care Providers of Children with Progeria. The Progeria Research Foundation.
Leslie B. Gordon (editor) 2010.
The Handbook has been translated into Spanish and Portuguese
♦ Number of Progeria Handbooks distributed to families of children/adults with Progeria and their care givers: 412
| PRF Medical & Research Database Publications |
Back to top of Medical & Research Database Section