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Foundation Develops Congenital Myopathy Guide for Families
The Joshua Frase Foundation has developed a publication titled “The Care of Congenital Myopathy: A Guide for Families” in response to requests from families. This work began as a translation into easily understood language from the Consensus Statement on Standard of Care for Congenital Myopathies that was published in 2012 in the Journal of Child Neurology. The foundation also provides documents related to diagnosis and standards of care for clinicians on its website.
The Joshua Frase Foundation has developed a publication titled “The Care of Congenital Myopathy: A Guide for Families” in response to requests from families. This work began as a translation into easily understood language from the Consensus Statement on Standard of Care for Congenital Myopathies that was published in 2012 in the Journal of Child Neurology. The foundation also provides documents related to diagnosis and standards of care for clinicians on its website.
The Joshua Frase Foundation has developed a publication titled “The Care of Congenital Myopathy: A Guide for Families” in response to requests from families. This work began as a translation into easily understood language from the Consensus Statement on Standard of Care for Congenital Myopathies that was published in 2012 in the Journal of Child Neurology. The foundation also provides documents related to diagnosis and standards of care for clinicians on its website.
CurePSP Is Accepting Proposals for Research Projects
July 15 is the deadline for proposals to be submitted to Cure PSP, a nonprofit organization, for research projects with the potential to advance the understanding, treatment, and prevention of progressive supranuclear palsy, corticobasal degeneration, amyotrophic lateral sclerosis-parkinsonism-dementia complex of Guam and/or Guadeloupean tauopathy, and other atypical Parkinsonian disorders.
July 15 is the deadline for proposals to be submitted to Cure PSP, a nonprofit organization, for research projects with the potential to advance the understanding, treatment, and prevention of progressive supranuclear palsy, corticobasal degeneration, amyotrophic lateral sclerosis-parkinsonism-dementia complex of Guam and/or Guadeloupean tauopathy, and other atypical Parkinsonian disorders.
July 15 is the deadline for proposals to be submitted to Cure PSP, a nonprofit organization, for research projects with the potential to advance the understanding, treatment, and prevention of progressive supranuclear palsy, corticobasal degeneration, amyotrophic lateral sclerosis-parkinsonism-dementia complex of Guam and/or Guadeloupean tauopathy, and other atypical Parkinsonian disorders.
Drug Approved for LAM Illustrates How Patient Organizations Can Partner With Researchers
On May 28, FDA approved Rapamune (sirolimus) as a treatment for LAM (lymphangioleiomyomatosis), a rare, progressive and potentially fatal lung disease that affects primarily women of childbearing age. It is the first treatment to be approved for LAM. The LAM Foundation, a patient advocacy organization established by the parents of a young woman who died of LAM, worked closely with researchers at the University of Cincinnati Medical School on research that ultimately led to development of this treatment by Wyeth Pharmaceuticals, Inc. An editorial in the New England Journal of Medicine a few years ago cited the partnership between the patient organization and researchers as a model for advancing treatments for rare diseases. Read the FDA press release about the drug approval.
On May 28, FDA approved Rapamune (sirolimus) as a treatment for LAM (lymphangioleiomyomatosis), a rare, progressive and potentially fatal lung disease that affects primarily women of childbearing age. It is the first treatment to be approved for LAM. The LAM Foundation, a patient advocacy organization established by the parents of a young woman who died of LAM, worked closely with researchers at the University of Cincinnati Medical School on research that ultimately led to development of this treatment by Wyeth Pharmaceuticals, Inc. An editorial in the New England Journal of Medicine a few years ago cited the partnership between the patient organization and researchers as a model for advancing treatments for rare diseases. Read the FDA press release about the drug approval.
On May 28, FDA approved Rapamune (sirolimus) as a treatment for LAM (lymphangioleiomyomatosis), a rare, progressive and potentially fatal lung disease that affects primarily women of childbearing age. It is the first treatment to be approved for LAM. The LAM Foundation, a patient advocacy organization established by the parents of a young woman who died of LAM, worked closely with researchers at the University of Cincinnati Medical School on research that ultimately led to development of this treatment by Wyeth Pharmaceuticals, Inc. An editorial in the New England Journal of Medicine a few years ago cited the partnership between the patient organization and researchers as a model for advancing treatments for rare diseases. Read the FDA press release about the drug approval.
Foundation for Prader-Willi Research and NORD Launch Global Registry
To accelerate research and better understanding of Prader-Willi syndrome (PWS), NORD and the Foundation for Prader-Willi Research have established a Global Prader-Willi Syndrome Registry. This new resource creates a platform for patients around the world to share information with researchers on developmental history, medical complications, and quality of life for individuals living with PWS. The registry is the second to be launched on a platform developed by NORD to serve rare disease patients, researchers, and medical experts by facilitating the global collection of rare disease data and experiences. NORD’s registry platform has been cited by Janet Woodcock, MD, Director of FDA’s Center for Drug Evaluation and Research, as an example of how patient organizations can contribute significantly toward better understanding of rare diseases and the development of treatments.
To accelerate research and better understanding of Prader-Willi syndrome (PWS), NORD and the Foundation for Prader-Willi Research have established a Global Prader-Willi Syndrome Registry. This new resource creates a platform for patients around the world to share information with researchers on developmental history, medical complications, and quality of life for individuals living with PWS. The registry is the second to be launched on a platform developed by NORD to serve rare disease patients, researchers, and medical experts by facilitating the global collection of rare disease data and experiences. NORD’s registry platform has been cited by Janet Woodcock, MD, Director of FDA’s Center for Drug Evaluation and Research, as an example of how patient organizations can contribute significantly toward better understanding of rare diseases and the development of treatments.
To accelerate research and better understanding of Prader-Willi syndrome (PWS), NORD and the Foundation for Prader-Willi Research have established a Global Prader-Willi Syndrome Registry. This new resource creates a platform for patients around the world to share information with researchers on developmental history, medical complications, and quality of life for individuals living with PWS. The registry is the second to be launched on a platform developed by NORD to serve rare disease patients, researchers, and medical experts by facilitating the global collection of rare disease data and experiences. NORD’s registry platform has been cited by Janet Woodcock, MD, Director of FDA’s Center for Drug Evaluation and Research, as an example of how patient organizations can contribute significantly toward better understanding of rare diseases and the development of treatments.
NORD Issues Statement on Approval of 21st Century Cures Initiative and Introduction of OPEN Act
NORD President and CEO Peter L. Saltonstall praised the House Energy and Commerce Committee for its recent unanimous approval of the 21st Century Cures Initiative, which includes broad-ranging provisions to enhance the development and delivery of medical treatments. Mr. Saltonstall also noted the introduction in the Senate of the OPEN Act, which encourages the repurposing of approved drugs for the treatment of life-threatening rare diseases. Read the NORD statement.
NORD President and CEO Peter L. Saltonstall praised the House Energy and Commerce Committee for its recent unanimous approval of the 21st Century Cures Initiative, which includes broad-ranging provisions to enhance the development and delivery of medical treatments. Mr. Saltonstall also noted the introduction in the Senate of the OPEN Act, which encourages the repurposing of approved drugs for the treatment of life-threatening rare diseases. Read the NORD statement.
NORD President and CEO Peter L. Saltonstall praised the House Energy and Commerce Committee for its recent unanimous approval of the 21st Century Cures Initiative, which includes broad-ranging provisions to enhance the development and delivery of medical treatments. Mr. Saltonstall also noted the introduction in the Senate of the OPEN Act, which encourages the repurposing of approved drugs for the treatment of life-threatening rare diseases. Read the NORD statement.
NIH Will Not Fund Gene-Editing Technologies in Human Embryos
NIH Director Francis S. Collins, MD, PhD, has announced that the agency will not fund gene-editing technologies in human embryos. The strong arguments against gene-editing, he said, include serious and unquantifiable safety issues, ethical issues that arise by altering human DNA in a way that can be inherited without consent of the next generation, and a current lack of compelling medical applications justifying the use of gene-editing techniques in embryos. Read the statement.
In related news, the National Academy of Sciences and the National Academy of Medicine are launching a major initiative to guide decision-making about research involving human gene editing. A multidisciplinary, international committee will be appointed to explore the associated scientific, ethical, and policy issues and recommend guidelines for gene-editing technologies.
http://www8.nationalacademies.org/onpinews/newsitem.aspx?RecordID=05182015
NIH Director Francis S. Collins, MD, PhD, has announced that the agency will not fund gene-editing technologies in human embryos. The strong arguments against gene-editing, he said, include serious and unquantifiable safety issues, ethical issues that arise by altering human DNA in a way that can be inherited without consent of the next generation, and a current lack of compelling medical applications justifying the use of gene-editing techniques in embryos. Read the statement.
In related news, the National Academy of Sciences and the National Academy of Medicine are launching a major initiative to guide decision-making about research involving human gene editing. A multidisciplinary, international committee will be appointed to explore the associated scientific, ethical, and policy issues and recommend guidelines for gene-editing technologies.
http://www8.nationalacademies.org/onpinews/newsitem.aspx?RecordID=05182015
NIH Director Francis S. Collins, MD, PhD, has announced that the agency will not fund gene-editing technologies in human embryos. The strong arguments against gene-editing, he said, include serious and unquantifiable safety issues, ethical issues that arise by altering human DNA in a way that can be inherited without consent of the next generation, and a current lack of compelling medical applications justifying the use of gene-editing techniques in embryos. Read the statement.
In related news, the National Academy of Sciences and the National Academy of Medicine are launching a major initiative to guide decision-making about research involving human gene editing. A multidisciplinary, international committee will be appointed to explore the associated scientific, ethical, and policy issues and recommend guidelines for gene-editing technologies.
http://www8.nationalacademies.org/onpinews/newsitem.aspx?RecordID=05182015
Canada Adopts First-Ever Rare Disease Strategy
Canada has adopted its first-ever nationwide Rare Disease Strategy with five key goals to improve care and treatment of rare disorders. The goals are: improving early detection and prevention, providing better care, enhancing community support, providing access to promising therapies, and promoting innovative research. Read the executive summary provided by the Canadian Organization for Rare Disorders (CORD).
Canada has adopted its first-ever nationwide Rare Disease Strategy with five key goals to improve care and treatment of rare disorders. The goals are: improving early detection and prevention, providing better care, enhancing community support, providing access to promising therapies, and promoting innovative research. Read the executive summary provided by the Canadian Organization for Rare Disorders (CORD).
Canada has adopted its first-ever nationwide Rare Disease Strategy with five key goals to improve care and treatment of rare disorders. The goals are: improving early detection and prevention, providing better care, enhancing community support, providing access to promising therapies, and promoting innovative research. Read the executive summary provided by the Canadian Organization for Rare Disorders (CORD).
NORD, EURORDIS, and Rare Disease Organizations in 30 Nations Announce an International Rare Diseases Alliance
The leading rare disease patient organizations in the US and Europe—NORD and EURORDIS—together with rare disease umbrella organizations from 30 nations around the world have launched a new global alliance to be known as Rare Diseases International. The collaboration was announced May 28th at a meeting in Madrid. NORD will be the US representative in this alliance, which also adopted a joint declaration for rare diseases to be an international public health priority. Read the press release.
The leading rare disease patient organizations in the US and Europe—NORD and EURORDIS—together with rare disease umbrella organizations from 30 nations around the world have launched a new global alliance to be known as Rare Diseases International. The collaboration was announced May 28th at a meeting in Madrid. NORD will be the US representative in this alliance, which also adopted a joint declaration for rare diseases to be an international public health priority. Read the press release.
The leading rare disease patient organizations in the US and Europe—NORD and EURORDIS—together with rare disease umbrella organizations from 30 nations around the world have launched a new global alliance to be known as Rare Diseases International. The collaboration was announced May 28th at a meeting in Madrid. NORD will be the US representative in this alliance, which also adopted a joint declaration for rare diseases to be an international public health priority. Read the press release.
ACMG and GMDI Develop First Guidelines for Medical and Dietary Treatment of PKU
The American College of Medical Genetics (ACMG) and the Genomics and Genetic Metabolic Dietitians International (GMDI) have developed the first-ever specific guidelines for medical and dietary treatment of phenylketonuria (PKU). The guidelines have been cited as “a tremendous step forward in ensuring that all patients in the US and Canada receive the highest quality of care and treatment in the management of their PKU” by the National PKU Alliance and Canadian PKU and Allied Disorders.
The work groups who prepared the documents drew together PKU medical experts from the US and Canada. Key recommendations include the following, among others:
- Treatment of PKU is lifelong with the goal of maintaining blood PHE levels in the range of 120-360 umol/l (2-6 mg/dl) in patients of all ages for life.
- Patients treated within the early weeks of life with initial good metabolic control, but who lose that control in later childhood or as an adult, may experience both reversible and irreversible neuropsychiatric consequences.
- Medical foods (formula and foods modified to be low in protein) are medically necessary for people living with PKU and should be regarded as medications.
- Any combination of therapies (medical foods, Kuvan, etc.) that improve a patient’s blood PHE levels is appropriate and should be individualized.
- Reduction of blood PHE, increase in PHE tolerance, or improvement in clinical symptoms of PKU are all valid indications to continue a particular therapy.
- Genetic counseling should be provided as an ongoing process for individuals with PKU and their families.
The complete medical and dietary guidelines are published on the National PKU Alliance website.
The American College of Medical Genetics (ACMG) and the Genomics and Genetic Metabolic Dietitians International (GMDI) have developed the first-ever specific guidelines for medical and dietary treatment of phenylketonuria (PKU). The guidelines have been cited as “a tremendous step forward in ensuring that all patients in the US and Canada receive the highest quality of care and treatment in the management of their PKU” by the National PKU Alliance and Canadian PKU and Allied Disorders.
The work groups who prepared the documents drew together PKU medical experts from the US and Canada. Key recommendations include the following, among others:
- Treatment of PKU is lifelong with the goal of maintaining blood PHE levels in the range of 120-360 umol/l (2-6 mg/dl) in patients of all ages for life.
- Patients treated within the early weeks of life with initial good metabolic control, but who lose that control in later childhood or as an adult, may experience both reversible and irreversible neuropsychiatric consequences.
- Medical foods (formula and foods modified to be low in protein) are medically necessary for people living with PKU and should be regarded as medications.
- Any combination of therapies (medical foods, Kuvan, etc.) that improve a patient’s blood PHE levels is appropriate and should be individualized.
- Reduction of blood PHE, increase in PHE tolerance, or improvement in clinical symptoms of PKU are all valid indications to continue a particular therapy.
- Genetic counseling should be provided as an ongoing process for individuals with PKU and their families.
The complete medical and dietary guidelines are published on the National PKU Alliance website.
The American College of Medical Genetics (ACMG) and the Genomics and Genetic Metabolic Dietitians International (GMDI) have developed the first-ever specific guidelines for medical and dietary treatment of phenylketonuria (PKU). The guidelines have been cited as “a tremendous step forward in ensuring that all patients in the US and Canada receive the highest quality of care and treatment in the management of their PKU” by the National PKU Alliance and Canadian PKU and Allied Disorders.
The work groups who prepared the documents drew together PKU medical experts from the US and Canada. Key recommendations include the following, among others:
- Treatment of PKU is lifelong with the goal of maintaining blood PHE levels in the range of 120-360 umol/l (2-6 mg/dl) in patients of all ages for life.
- Patients treated within the early weeks of life with initial good metabolic control, but who lose that control in later childhood or as an adult, may experience both reversible and irreversible neuropsychiatric consequences.
- Medical foods (formula and foods modified to be low in protein) are medically necessary for people living with PKU and should be regarded as medications.
- Any combination of therapies (medical foods, Kuvan, etc.) that improve a patient’s blood PHE levels is appropriate and should be individualized.
- Reduction of blood PHE, increase in PHE tolerance, or improvement in clinical symptoms of PKU are all valid indications to continue a particular therapy.
- Genetic counseling should be provided as an ongoing process for individuals with PKU and their families.
The complete medical and dietary guidelines are published on the National PKU Alliance website.
AAN and AANEM Publish Guides for Evaluation, Diagnosis and Management of Congenital Muscular Dystrophy (CMD)
The American Academy of Neurology (AAN) and American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) have published guidelines regarding CMD, based on review of the literature. Geographic and ethnic background, clinical features, brain imaging studies, muscle imaging studies, muscle biopsies, and genetic testing can help to determine some subtype-specific diagnoses. Multi-organ system complications occur frequently in children with CMD and a multidisciplinary care team can be beneficial in developing a treatment plan. The guideline was published March 31 in Neurology.
http://www.ncbi.nlm.nih.gov/pubmed/25825463?dopt=Abstract
The American Academy of Neurology (AAN) and American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) have published guidelines regarding CMD, based on review of the literature. Geographic and ethnic background, clinical features, brain imaging studies, muscle imaging studies, muscle biopsies, and genetic testing can help to determine some subtype-specific diagnoses. Multi-organ system complications occur frequently in children with CMD and a multidisciplinary care team can be beneficial in developing a treatment plan. The guideline was published March 31 in Neurology.
http://www.ncbi.nlm.nih.gov/pubmed/25825463?dopt=Abstract
The American Academy of Neurology (AAN) and American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) have published guidelines regarding CMD, based on review of the literature. Geographic and ethnic background, clinical features, brain imaging studies, muscle imaging studies, muscle biopsies, and genetic testing can help to determine some subtype-specific diagnoses. Multi-organ system complications occur frequently in children with CMD and a multidisciplinary care team can be beneficial in developing a treatment plan. The guideline was published March 31 in Neurology.
http://www.ncbi.nlm.nih.gov/pubmed/25825463?dopt=Abstract