News from NORD

Following the confirmation by the U.S. Senate of Robert Califf, MD, as Commissioner of the Food and Drug Administration (FDA), NORD President and CEO Peter L. Saltonstall issued the following statement:

“On behalf of the rare disease community, I want to congratulate Dr. Califf on being confirmed as Commissioner of the FDA. Dr. Califf has spoken to NORD in the past and is familiar with the special issues facing our community. We look forward to working with him closely in the future.”

Prior to joining FDA in February 2015, Dr. Califf was Professor of Medicine and Vice Chancellor for clinical and translational research at Duke University. He is an internationally recognized expert in cardiovascular medicine, health outcomes research, healthcare quality, and clinical research.

Following the confirmation by the U.S. Senate of Robert Califf, MD, as Commissioner of the Food and Drug Administration (FDA), NORD President and CEO Peter L. Saltonstall issued the following statement:

“On behalf of the rare disease community, I want to congratulate Dr. Califf on being confirmed as Commissioner of the FDA. Dr. Califf has spoken to NORD in the past and is familiar with the special issues facing our community. We look forward to working with him closely in the future.”

Prior to joining FDA in February 2015, Dr. Califf was Professor of Medicine and Vice Chancellor for clinical and translational research at Duke University. He is an internationally recognized expert in cardiovascular medicine, health outcomes research, healthcare quality, and clinical research.

Following the confirmation by the U.S. Senate of Robert Califf, MD, as Commissioner of the Food and Drug Administration (FDA), NORD President and CEO Peter L. Saltonstall issued the following statement:

“On behalf of the rare disease community, I want to congratulate Dr. Califf on being confirmed as Commissioner of the FDA. Dr. Califf has spoken to NORD in the past and is familiar with the special issues facing our community. We look forward to working with him closely in the future.”

Prior to joining FDA in February 2015, Dr. Califf was Professor of Medicine and Vice Chancellor for clinical and translational research at Duke University. He is an internationally recognized expert in cardiovascular medicine, health outcomes research, healthcare quality, and clinical research.

The first intrathecal administration of an adeno-associated virus (AAV) gene therapy vector is underway at NIH for the rare neurodegenerative disorder, giant axonal neuropathy (GAN), a differential diagnosis of Charcot-Marie-Tooth Type 2. To date, two subjects have been injected with self-complimentary AAV serotype 9/GAN. There have been no adverse events.

If this IND is successful at achieving broad distribution throughout the CNS, it could be an answer to monogenic loss of function disorders whose targets are upper and lower motor neurons, as well as dorsal root ganglia.

All pre-clinical work for this investigational biologic was funded by Hannah’s Hope Fund for GAN, a 501c3 public charity. More about this trial.

The first intrathecal administration of an adeno-associated virus (AAV) gene therapy vector is underway at NIH for the rare neurodegenerative disorder, giant axonal neuropathy (GAN), a differential diagnosis of Charcot-Marie-Tooth Type 2. To date, two subjects have been injected with self-complimentary AAV serotype 9/GAN. There have been no adverse events.

If this IND is successful at achieving broad distribution throughout the CNS, it could be an answer to monogenic loss of function disorders whose targets are upper and lower motor neurons, as well as dorsal root ganglia.

All pre-clinical work for this investigational biologic was funded by Hannah’s Hope Fund for GAN, a 501c3 public charity. More about this trial.

The first intrathecal administration of an adeno-associated virus (AAV) gene therapy vector is underway at NIH for the rare neurodegenerative disorder, giant axonal neuropathy (GAN), a differential diagnosis of Charcot-Marie-Tooth Type 2. To date, two subjects have been injected with self-complimentary AAV serotype 9/GAN. There have been no adverse events.

If this IND is successful at achieving broad distribution throughout the CNS, it could be an answer to monogenic loss of function disorders whose targets are upper and lower motor neurons, as well as dorsal root ganglia.

All pre-clinical work for this investigational biologic was funded by Hannah’s Hope Fund for GAN, a 501c3 public charity. More about this trial.

A study by Columbia University investigators and funded by CurePSP, a nonprofit patient organization, shows promising developments in the treatment of progressive supranuclear palsy (PSP) and related neurodegenerative disorders. The study, conducted by Columbia researcher Natura Myeku, PhD, and associates and published in Nature Medicine, is focused on decreasing levels of toxic proteins associated with neurodegenerative diseases, including Alzheimer’s disease.

A study by Columbia University investigators and funded by CurePSP, a nonprofit patient organization, shows promising developments in the treatment of progressive supranuclear palsy (PSP) and related neurodegenerative disorders. The study, conducted by Columbia researcher Natura Myeku, PhD, and associates and published in Nature Medicine, is focused on decreasing levels of toxic proteins associated with neurodegenerative diseases, including Alzheimer’s disease.

A study by Columbia University investigators and funded by CurePSP, a nonprofit patient organization, shows promising developments in the treatment of progressive supranuclear palsy (PSP) and related neurodegenerative disorders. The study, conducted by Columbia researcher Natura Myeku, PhD, and associates and published in Nature Medicine, is focused on decreasing levels of toxic proteins associated with neurodegenerative diseases, including Alzheimer’s disease.

The National Institutes of Health has published an agency-wide strategic plan for fiscal years 2016–2020. The plan outlines a vision for biomedical research and was developed with input from hundreds of stakeholders and scientific advisers.

The National Institutes of Health has published an agency-wide strategic plan for fiscal years 2016–2020. The plan outlines a vision for biomedical research and was developed with input from hundreds of stakeholders and scientific advisers.

The National Institutes of Health has published an agency-wide strategic plan for fiscal years 2016–2020. The plan outlines a vision for biomedical research and was developed with input from hundreds of stakeholders and scientific advisers.

In 2012 legislation known as the FDA Safety and Innovation Act, the Food and Drug Administration was authorized to conduct a series of 20 public meetings focusing on specific diseases to enhance understanding of the patient experience. Now, the FDA has announced that patient organizations whose diseases were not included in this series may organize their own meetings for this purpose. Learn more about this in an FDA blog and on the FDA website.

In 2012 legislation known as the FDA Safety and Innovation Act, the Food and Drug Administration was authorized to conduct a series of 20 public meetings focusing on specific diseases to enhance understanding of the patient experience. Now, the FDA has announced that patient organizations whose diseases were not included in this series may organize their own meetings for this purpose. Learn more about this in an FDA blog and on the FDA website.

In 2012 legislation known as the FDA Safety and Innovation Act, the Food and Drug Administration was authorized to conduct a series of 20 public meetings focusing on specific diseases to enhance understanding of the patient experience. Now, the FDA has announced that patient organizations whose diseases were not included in this series may organize their own meetings for this purpose. Learn more about this in an FDA blog and on the FDA website.

The Omnibus Spending Bill approved by the House and Senate on Dec. 18, 2015, and later signed by President Obama includes several provisions that NORD and its advocacy partners supported, including a 7% funding increase for NIH, a 5% increase for FDA, and extension of the Rare Pediatric Disease Priority Review Voucher Program, which had been set to expire in March 2016.

The Omnibus Spending Bill approved by the House and Senate on Dec. 18, 2015, and later signed by President Obama includes several provisions that NORD and its advocacy partners supported, including a 7% funding increase for NIH, a 5% increase for FDA, and extension of the Rare Pediatric Disease Priority Review Voucher Program, which had been set to expire in March 2016.

The Omnibus Spending Bill approved by the House and Senate on Dec. 18, 2015, and later signed by President Obama includes several provisions that NORD and its advocacy partners supported, including a 7% funding increase for NIH, a 5% increase for FDA, and extension of the Rare Pediatric Disease Priority Review Voucher Program, which had been set to expire in March 2016.

The last day of February will once again be observed as Rare Disease Day this year. This annual observance draws together patients, researchers, clinicians, and others to promote awareness of rare diseases and advocate for research, treatments, and access to care for patients. NIH will host a Rare Disease Day event open to the public and also available by webcast. Registration is open now.

NORD will host advocacy and awareness events at state capitol buildings across the country. In addition, NORD is working with students in several medical schools and on university campuses to organize events at which patients, researchers, and clinicians will speak.

For information about Rare Disease Day activities in the U.S., visit the national website hosted by NORD. To learn about events taking place around the world, visit the international website hosted by the European Organization for Rare Diseases (EURORDIS).

The last day of February will once again be observed as Rare Disease Day this year. This annual observance draws together patients, researchers, clinicians, and others to promote awareness of rare diseases and advocate for research, treatments, and access to care for patients. NIH will host a Rare Disease Day event open to the public and also available by webcast. Registration is open now.

NORD will host advocacy and awareness events at state capitol buildings across the country. In addition, NORD is working with students in several medical schools and on university campuses to organize events at which patients, researchers, and clinicians will speak.

For information about Rare Disease Day activities in the U.S., visit the national website hosted by NORD. To learn about events taking place around the world, visit the international website hosted by the European Organization for Rare Diseases (EURORDIS).

The last day of February will once again be observed as Rare Disease Day this year. This annual observance draws together patients, researchers, clinicians, and others to promote awareness of rare diseases and advocate for research, treatments, and access to care for patients. NIH will host a Rare Disease Day event open to the public and also available by webcast. Registration is open now.

NORD will host advocacy and awareness events at state capitol buildings across the country. In addition, NORD is working with students in several medical schools and on university campuses to organize events at which patients, researchers, and clinicians will speak.

For information about Rare Disease Day activities in the U.S., visit the national website hosted by NORD. To learn about events taking place around the world, visit the international website hosted by the European Organization for Rare Diseases (EURORDIS).

The U.S. Food and Drug Administration (FDA) has awarded NORD a $250,000 grant to develop 20 natural history studies for 20 rare diseases, based on a lottery system. Patient organizations may submit an application on the NORD website to be included in the lottery for this project.

“NORD’s Natural History Study Project tackles one of the greatest needs and an inherent challenge of the rare disease community: having enough longitudinal data to help medical researchers better understand how these diseases develop and progress over time,” said NORD President and CEO Peter L. Saltonstall.

NORD developed its Natural History/Registry Platform with input from patient organizations, researchers, and regulators. To date, NORD has launched seven disease-specific studies, working with rare disease patient groups. The platform has been widely praised as a model for supporting rare disease studies.

As part of the grant, NORD will work with rare disease patient organizations and FDA to establish a registry toolkit containing best-practice tools and templates to help in the design of future natural history studies to support rare disease research.

The U.S. Food and Drug Administration (FDA) has awarded NORD a $250,000 grant to develop 20 natural history studies for 20 rare diseases, based on a lottery system. Patient organizations may submit an application on the NORD website to be included in the lottery for this project.

“NORD’s Natural History Study Project tackles one of the greatest needs and an inherent challenge of the rare disease community: having enough longitudinal data to help medical researchers better understand how these diseases develop and progress over time,” said NORD President and CEO Peter L. Saltonstall.

NORD developed its Natural History/Registry Platform with input from patient organizations, researchers, and regulators. To date, NORD has launched seven disease-specific studies, working with rare disease patient groups. The platform has been widely praised as a model for supporting rare disease studies.

As part of the grant, NORD will work with rare disease patient organizations and FDA to establish a registry toolkit containing best-practice tools and templates to help in the design of future natural history studies to support rare disease research.

The U.S. Food and Drug Administration (FDA) has awarded NORD a $250,000 grant to develop 20 natural history studies for 20 rare diseases, based on a lottery system. Patient organizations may submit an application on the NORD website to be included in the lottery for this project.

“NORD’s Natural History Study Project tackles one of the greatest needs and an inherent challenge of the rare disease community: having enough longitudinal data to help medical researchers better understand how these diseases develop and progress over time,” said NORD President and CEO Peter L. Saltonstall.

NORD developed its Natural History/Registry Platform with input from patient organizations, researchers, and regulators. To date, NORD has launched seven disease-specific studies, working with rare disease patient groups. The platform has been widely praised as a model for supporting rare disease studies.

As part of the grant, NORD will work with rare disease patient organizations and FDA to establish a registry toolkit containing best-practice tools and templates to help in the design of future natural history studies to support rare disease research.

Patients who remain undiagnosed despite extensive evaluation and testing may now apply online to the NIH Undiagnosed Diseases Network (UDN). Applicants to the UDN will need support from their primary health care providers in the form of a referral letter summarizing the medical problems, treatments, and testing.

The UDN seeks to provide diagnosis for patients who remain “medical mysteries” despite the efforts of skilled clinicians, as a result of having diseases that are extremely rare, have not previously been described, or are unrecognized forms of more common diseases.

The online portal, known as the UDN Gateway, will streamline the application process for patients and their physicians. Applications should be submitted through the Gateway rather than to individual UDN clinical sites. Qualified applicants who can’t afford required baseline testing will be referred by UDN staff to the National Organization for Rare Disorders (NORD) for possible financial assistance through a program administered by NORD for the UDN.

The UDN is an extension of the NIH Undiagnosed Diseases Program established in 2008 at the NIH Clinical Center in Bethesda. Through that program, more than 800 patients have been evaluated and approximately 25% have received some level of clinical, molecular, or biochemical diagnosis.

In 2015, six additional clinical sites were opened to broaden the expertise of the program and allow additional patients to participate. The new sites are:

·      Baylor College of Medicine, Houston, TX

·      Duke Medical Center, Durham, NC, with Columbia University, New York City

·      Harvard Teaching Hospitals, Boston, MA

·      Stanford Medical Center, Stanford, CA

·      University of California at Los Angeles Medical Center

·      Vanderbilt University Medical Center, Nashville, TN

The network also includes two DNA-sequencing facilities—one at the Baylor College of Medicine and the other at the Hudson/Alpha Institute for Biotechnology in Huntsville, AL.

Patients who remain undiagnosed despite extensive evaluation and testing may now apply online to the NIH Undiagnosed Diseases Network (UDN). Applicants to the UDN will need support from their primary health care providers in the form of a referral letter summarizing the medical problems, treatments, and testing.

The UDN seeks to provide diagnosis for patients who remain “medical mysteries” despite the efforts of skilled clinicians, as a result of having diseases that are extremely rare, have not previously been described, or are unrecognized forms of more common diseases.

The online portal, known as the UDN Gateway, will streamline the application process for patients and their physicians. Applications should be submitted through the Gateway rather than to individual UDN clinical sites. Qualified applicants who can’t afford required baseline testing will be referred by UDN staff to the National Organization for Rare Disorders (NORD) for possible financial assistance through a program administered by NORD for the UDN.

The UDN is an extension of the NIH Undiagnosed Diseases Program established in 2008 at the NIH Clinical Center in Bethesda. Through that program, more than 800 patients have been evaluated and approximately 25% have received some level of clinical, molecular, or biochemical diagnosis.

In 2015, six additional clinical sites were opened to broaden the expertise of the program and allow additional patients to participate. The new sites are:

·      Baylor College of Medicine, Houston, TX

·      Duke Medical Center, Durham, NC, with Columbia University, New York City

·      Harvard Teaching Hospitals, Boston, MA

·      Stanford Medical Center, Stanford, CA

·      University of California at Los Angeles Medical Center

·      Vanderbilt University Medical Center, Nashville, TN

The network also includes two DNA-sequencing facilities—one at the Baylor College of Medicine and the other at the Hudson/Alpha Institute for Biotechnology in Huntsville, AL.

Patients who remain undiagnosed despite extensive evaluation and testing may now apply online to the NIH Undiagnosed Diseases Network (UDN). Applicants to the UDN will need support from their primary health care providers in the form of a referral letter summarizing the medical problems, treatments, and testing.

The UDN seeks to provide diagnosis for patients who remain “medical mysteries” despite the efforts of skilled clinicians, as a result of having diseases that are extremely rare, have not previously been described, or are unrecognized forms of more common diseases.

The online portal, known as the UDN Gateway, will streamline the application process for patients and their physicians. Applications should be submitted through the Gateway rather than to individual UDN clinical sites. Qualified applicants who can’t afford required baseline testing will be referred by UDN staff to the National Organization for Rare Disorders (NORD) for possible financial assistance through a program administered by NORD for the UDN.

The UDN is an extension of the NIH Undiagnosed Diseases Program established in 2008 at the NIH Clinical Center in Bethesda. Through that program, more than 800 patients have been evaluated and approximately 25% have received some level of clinical, molecular, or biochemical diagnosis.

In 2015, six additional clinical sites were opened to broaden the expertise of the program and allow additional patients to participate. The new sites are:

·      Baylor College of Medicine, Houston, TX

·      Duke Medical Center, Durham, NC, with Columbia University, New York City

·      Harvard Teaching Hospitals, Boston, MA

·      Stanford Medical Center, Stanford, CA

·      University of California at Los Angeles Medical Center

·      Vanderbilt University Medical Center, Nashville, TN

The network also includes two DNA-sequencing facilities—one at the Baylor College of Medicine and the other at the Hudson/Alpha Institute for Biotechnology in Huntsville, AL.

The Institute of Medicine (IOM) has published a report in which it cites diagnostic errors as a common and harmful patient safety problem. The IOM report outlines eight goals and provides specific recommendations to reduce diagnostic error and improve diagnosis.

The Institute of Medicine (IOM) has published a report in which it cites diagnostic errors as a common and harmful patient safety problem. The IOM report outlines eight goals and provides specific recommendations to reduce diagnostic error and improve diagnosis.

The Institute of Medicine (IOM) has published a report in which it cites diagnostic errors as a common and harmful patient safety problem. The IOM report outlines eight goals and provides specific recommendations to reduce diagnostic error and improve diagnosis.