Genetics/Genomics

FDA Comment Deadline: Patient Perspectives on the Impact of Rare Diseases — Bridging the Commonalities

The Food and Drug Administration (FDA) is seeking public comment to accompany the meeting titled  “Patient Perspectives on the Impact of Rare Diseases: Bridging the Commonalities.”

This public meeting is intended to obtain patients' and caregivers' perspectives on impacts of rare diseases on daily life and to assess commonalities that may help the Agency and medical product developers further understand and advance the development of treatments for rare diseases. Developing a treatment for a rare disease can present unique challenges, such as the small number of individuals affected and heterogenous etiologies and manifestations. While the differences between rare diseases are critically important, it is also important to assess commonalities to synergize product development in rare diseases. The goal of this meeting is to identify common issues and symptoms in rare diseases to help advance medical product development, potentially through the creation of novel endpoints or trial designs that focus on commonalities across a variety of rare diseases.

The development of drugs, biologics, and devices for rare diseases involves unique challenges. The goal of this meeting is to identify common issues across rare diseases to help address some of these challenges. Rare diseases, often referred to as orphan diseases, are defined based on rarity of occurrence. Although these diseases are individually rare, collectively they are not. According to the National Institutes of Health, there are approximately 7,000 rare diseases affecting an estimated 30 million people in the United States. Many of these rare diseases are serious or life-threatening and many affect children.

The combination of government incentives and scientific advances has fueled extraordinary development in orphan drugs. Since the Orphan Drug Act was passed in 1983, drugs and biologics for over 750 rare disease indications have been developed and approved for marketing. In addition to drugs and biologics, there has been progress in the development of devices for rare diseases. Since 1990, the FDA has approved 74 medical devices for orphan indications under the Agency's Humanitarian Device Exemption program. Despite these successes, we recognize that thousands of rare diseases still have no approved treatments.

Developing a treatment for a rare disease can present unique challenges. Potential challenges include the small number of individuals affected, lack of understanding of the natural history of the disease, phenotypic heterogeneity, and lack of validated endpoints for use in clinical trials. Overcoming these challenges requires collaboration between many stakeholders, including scientists, product developers, regulators, policy makers, and patients. FDA is committed to working with stakeholders to advance treatment options for patients with rare diseases.

This public meeting will focus on the perspective of those affected by rare diseases. Patients, family members, and caregivers will provide important input on the impact of rare diseases on daily life. While the differences between rare diseases are critically important, this meeting will assess commonalities. The specific goal of this meeting is to identify common issues and symptoms in rare diseases to help advance medical product development, potentially through the generation of novel endpoints or trial designs that focus on commonalities across a variety of rare disease.

This public meeting will consist of panels of patients/caregivers and facilitated discussions. The aim of the meeting is to hear directly from patients with rare diseases and their caregivers and family members. The meeting will include patients with any rare disease and their caregivers and family members. It is not restricted to a specific rare disease or group of rare diseases.

Members of the public may submit comments online at Regulations.gov or via mail. More information about the meeting and the comment deadline is available at this Federal Register notice.

AHRQ Nominations: US Preventive Services Task Force

The Agency for Healthcare Research and Quality (AHRQ) within the Department of Health and Human Services is announcing a forthcoming nomination deadline for members of the US Preventive Services Task Force (USPSTF). The USPSTF, an independent body of experts in prevention and evidence- based medicine, works to improve the health of all Americans by making evidence-based recommendations about the effectiveness of clinical preventive services and health promotion. The recommendations made by the USPSTF address clinical preventive services for adults and children, and include screening tests, counseling services, and preventive medications.

The USPSTF was first established in 1984 under the auspices of the US Public Health Service. Currently, the USPSTF is convened by the Director of AHRQ, and AHRQ provides ongoing scientific, administrative, and dissemination support for the USPSTF's operation. USPSTF members serve four year terms. New members are selected each year to replace those members who are completing their appointments.

To qualify for the USPSTF and support its mission, an applicant or nominee should, at a minimum, demonstrate knowledge, expertise and national leadership in the following areas:

  1. The critical evaluation of research published in peer-reviewed literature and in the methods of evidence review;
  2. Clinical prevention, health promotion and primary health care; and
  3. Implementation of evidence-based recommendations in clinical practice including at the clinician-patient level, practice level, and health-system level.

Additionally, the Task Force benefits from members with expertise in the following areas:

  • Public health
  • Health equity and the reduction of health disparities
  • Application of science to health policy
  • Behavioral medicine
  • Communication of scientific findings to multiple audiences including health care professionals, policy makers and the general public
  • Candidates with experience and skills in any of these areas should highlight them in their nomination materials

Nominations should be submitted in writing by mail, or electronically by email. More information about nomination criteria and the nomination process can be found at this Federal Register notice.

HRSA Teleconference: Advisory Council on Blood Stem Cell Transplantation

The Health Resources and Services Administration (HRSA) announces a forthcoming teleconference meeting of the Advisory Council on Blood Stem Cell Transplantation (ACBSCT). The ACBSCT provides advice and recommendations to the Secretary of HHS and the HRSA Administrator on the activities of the C.W. Bill Young Cell Transplantation Program (CWBYCTP) and the National Cord Blood Inventory (NCBI) Program. The principal purpose of these programs is to make blood stem cells from adult donors and cord blood units available for patients who need a transplant to treat life-threatening conditions such as leukemia, and who lack a suitably matched relative who can be the donor.

During the May 7, 2019, meeting, members of ACBSCT will discuss issues related utilization of cord blood for transplant and utilization of blood stem cells in cellular therapies.

This meeting will be held by webinar. Members of the public will have the opportunity to provide comments. Public participants may submit written statements in advance of the scheduled meeting. Oral comments will be honored in the order they are requested and may be limited as time allows. Requests to submit a written statement or make oral comments to ACBSCT should be sent to Robert Walsh, DFO. 

For more information regarding the webinar link, public comments, and a forthcoming agenda, please see this Federal Register notice.

FDA Meeting: Patient Perspectives on the Impact of Rare Diseases — Bridging the Commonalities

The Food and Drug Administration (FDA) is announcing an upcoming public meeting titled  “Patient Perspectives on the Impact of Rare Diseases: Bridging the Commonalities.”

This public meeting is intended to obtain patients' and caregivers' perspectives on impacts of rare diseases on daily life and to assess commonalities that may help the Agency and medical product developers further understand and advance the development of treatments for rare diseases. Developing a treatment for a rare disease can present unique challenges, such as the small number of individuals affected and heterogenous etiologies and manifestations. While the differences between rare diseases are critically important, it is also important to assess commonalities to synergize product development in rare diseases. The goal of this meeting is to identify common issues and symptoms in rare diseases to help advance medical product development, potentially through the creation of novel endpoints or trial designs that focus on commonalities across a variety of rare diseases.

The development of drugs, biologics, and devices for rare diseases involves unique challenges. The goal of this meeting is to identify common issues across rare diseases to help address some of these challenges. Rare diseases, often referred to as orphan diseases, are defined based on rarity of occurrence. Although these diseases are individually rare, collectively they are not. According to the National Institutes of Health, there are approximately 7,000 rare diseases affecting an estimated 30 million people in the United States. Many of these rare diseases are serious or life-threatening and many affect children.

The combination of government incentives and scientific advances has fueled extraordinary development in orphan drugs. Since the Orphan Drug Act was passed in 1983, drugs and biologics for over 750 rare disease indications have been developed and approved for marketing. In addition to drugs and biologics, there has been progress in the development of devices for rare diseases. Since 1990, the FDA has approved 74 medical devices for orphan indications under the Agency's Humanitarian Device Exemption program. Despite these successes, we recognize that thousands of rare diseases still have no approved treatments.

Developing a treatment for a rare disease can present unique challenges. Potential challenges include the small number of individuals affected, lack of understanding of the natural history of the disease, phenotypic heterogeneity, and lack of validated endpoints for use in clinical trials. Overcoming these challenges requires collaboration between many stakeholders, including scientists, product developers, regulators, policy makers, and patients. FDA is committed to working with stakeholders to advance treatment options for patients with rare diseases.

This public meeting will focus on the perspective of those affected by rare diseases. Patients, family members, and caregivers will provide important input on the impact of rare diseases on daily life. While the differences between rare diseases are critically important, this meeting will assess commonalities. The specific goal of this meeting is to identify common issues and symptoms in rare diseases to help advance medical product development, potentially through the generation of novel endpoints or trial designs that focus on commonalities across a variety of rare disease.

This public meeting will consist of panels of patients/caregivers and facilitated discussions. The aim of the meeting is to hear directly from patients with rare diseases and their caregivers and family members. The meeting will include patients with any rare disease and their caregivers and family members. It is not restricted to a specific rare disease or group of rare diseases.

Members of the public may attend in person. Registration for the meeting will be done online, with option to register for the comment period on the day of the meeting. For more information regarding the registration process, along with a link to a forthcoming agenda, please see this Federal Register notice.

HHS Workshop: National Toxicology Program, Converging on Cancer

The Department of Health and Human Services (HHS), National Toxicology Program (NTP), announces a forthcoming workshop titled "Converging on Cancer."

Cancer is a leading cause of mortality worldwide. While the defining feature of cancer is uncontrolled division of abnormal cells, it is a complex disease with varied presentations (i.e., different etiologies and target tissues) that involves dysregulation of multiple interconnected signaling pathways. Diverse environmental factors have been associated with the development and progression of various cancer types. A critical question in the field of environmental health is how to harness what is known about cancer biology and associated environmental exposures to improve public health outcomes.

The Converging on Cancer Workshop is aimed at providing a clear path forward for evaluating the interactions between environmental exposures and cancer biology using the latest tools in toxicology and identifying knowledge gaps that require research attention. Potential applications of this understanding include building a framework for incorporating mechanistic data into cancer risk assessment, developing effective screening tools to detect the carcinogenic potential of environmental chemicals (including mixtures), engineering safer products, and designing more effective multi-target therapeutics. 

This free meeting is open to the public with attendance limited only by the space available. The meeting will consist of plenary sessions which will be webcast, breakout discussion sessions, and a poster session. The plenary sessions will be webcast but the breakout sessions and poster session will not be webcast.

Individuals who plan to attend in person or view the webcast must register on the NTP website. For more information regarding the workshop and attendance, please see this notice.

HHS Workshop: Converging on Cancer

The National Toxicology Program within the National Institute of Environmental Health Sciences, Department of Health and Human Services (HHS) will hold a workshop on evaluating the interactions between environmental exposures and cancer biology.

Cancer is a leading cause of mortality worldwide. While the defining feature of cancer is uncontrolled division of abnormal cells, it is a complex disease with varied presentations (i.e., different etiologies and target tissues) that involves dysregulation of multiple interconnected signaling pathways. Diverse environmental factors have been associated with the development and progression of various cancer types. A critical question in the field of environmental health is how to harness what is known about cancer biology and associated environmental exposures to improve public health outcomes. The Converging on Cancer Workshop is aimed at providing a clear path forward for evaluating the interactions between environmental exposures and cancer biology using the latest tools in toxicology and identifying knowledge gaps that require research attention. Potential applications of this understanding include building a framework for incorporating mechanistic data into cancer risk assessment, developing effective screening tools to detect the carcinogenic potential of environmental chemicals (including mixtures), engineering safer products, and designing more effective multi-target therapeutics. 

This meeting is free for members of the public to attend. Attendance will be limited by space available. This workshop will also be webcast. Both in person and online attendance require a registration. The registration links, along with more information regarding the event and a forthcoming agenda, are available at the NTP's website.

HRSA Meeting: Advisory Committee on Heritable Disorders in Newborns and Children

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) within the Health Resources and Services Administration (HRSA), Department of Health and Human Services (HHS), has scheduled a public meeting. ACHDNC provides advice and recommendations to the Secretary of HHS on the development of newborn screening activities, technologies, policies, guidelines, and programs for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders. 

During the April 2019 meeting, ACHDNC will hear from experts in the fields of public health, medicine, heritable disorders, rare disorders, and newborn screening. Agenda items include: (1) Assessing state readiness to implement screening for conditions added to the RUSP; (2) discussing newborn screening pilot studies; (3) reviewing rare disease registries; (4) reviewing spinal muscular atrophy (SMA) implementation; and (5) receiving workgroup updates. 

Members of the public will be able to provide comments, either through written submission or orally at the meeting. Members of the public may attend the meeting in person or via webcast with advance registration. For more information regarding registration for the meeting and comment submission, please see this Federal Register notice.

HRSA Meeting: Advisory Committee on Organ Transplantation

The Health Resources and Services Administration (HRSA) within the Department of Health and Human Services is announcing the forthcoming public meeting of the Secretary's Advisory Committee on Organ Transplantation (ACOT). ACOT advises the Secretary of HHS, through the HRSA Administrator, on all aspects of organ donation, procurement, allocation, and transplantation, and on such other matters that the Secretary determines; advises the Secretary on federal efforts to maximize the number of deceased donor organs made available for transplantation and to support the safety of living organ donation; at the request of the Secretary, reviews significant proposed Organ Procurement and Transplantation Network (OPTN) policies submitted for the Secretary's approval to recommend whether they should be made enforceable; and provides expert input on the latest advances in the science of transplantation.

During the April 16, 2019, meeting, ACOT will receive updates on recent activity of OPTN and discuss efforts to increase organ donation and transplantation. Agenda items are subject to change as priorities dictate. Refer to the ACOT website for any updated information concerning the meeting.

This meeting will be held by webinar; the webinar link and call-in number can be found at the ACOT website. More information regarding the meeting can be found at this Federal Register notice.

APHIS Comment Deadline: Determination of Nonregulated Status of Soybean Genetically Engineered for Yield Increase and Resistance to Glufosinate

The Animal and Plant Health Inspection Service (APHIS) is making available for public comment a draft plant pest risk assessment (PPRA) and a draft environmental assessment (EA) for the new plant variety HB4 soybean designated as event IND-00410-5, which has been genetically engineered for increased yield and resistance to the herbicide glufosinate. APHIS is making the draft PPRA and draft EA available for public review and comment.

Under the authority of the plant pest provisions of the Plant Protection Act (7 U.S.C. 7701 et seq.), the regulations in 7 CFR part 340, “Introduction of Organisms and Products Altered or Produced Through Genetic Engineering Which Are Plant Pests or Which There Is Reason to Believe Are Plant Pests,” regulate, among other things, the introduction (importation, interstate movement, or release into the environment) of organisms and products altered or produced through genetic engineering that are plant pests or that there is reason to believe are plant pests. Such genetically engineered (GE) organisms and products are considered “regulated articles.”

The regulations in § 340.6(a) provide that any person may submit a petition to the Animal and Plant Health Inspection Service (APHIS) seeking a determination that an article should not be regulated under 7 CFR part 340. APHIS received a petition (APHIS Petition Number 17-223-01p) from Verdeca LLC (Verdeca), seeking a determination of nonregulated status for the new plant variety called HB4 soybean (Glycine max) designated as event IND-00410-5 (also OECD unique identifier IND-00410-5), which has been genetically engineered for increased yield. The Verdeca petition states that information collected during field trials and laboratory analyses indicates that HB4 soybean is not likely to be a plant pest and therefore should not be a regulated article under APHIS' regulations in 7 CFR part 340.

Members of the public may submit comments by mail, fax, or at Regulations.gov. More information is available at this Federal Register notice

FDA Comment Deadline: Rare Diseases — Common Issues in Drug Development

The Food and Drug Administration (FDA) is announcing the availability of and seeking public comment on a draft guidance for industry entitled “Rare Diseases: Common Issues in Drug Development.” This draft guidance assists sponsors of drug and biological products intended to treat or prevent rare diseases in conducting more efficient and successful development programs through a discussion of selected issues commonly encountered in rare disease drug development. This draft guidance addresses the following important aspects of drug development:

  • Adequate description and understanding of the disease's natural history
  • Adequate understanding of the pathophysiology of the disease and the drug's proposed mechanism of action
  • Nonclinical pharmacotoxicology considerations to support the proposed clinical investigation or investigations
  • Reliable endpoints and outcome assessment
  • Standard of evidence to establish safety and effectiveness
  • Drug manufacturing considerations during drug development

This guidance revises and replaces the draft guidance for industry of the same name issued on August 17, 2015 (80 FR 49246). This revision includes the following:

  • Updates to the natural history section
  • Inclusion of issues for evaluation of biomarkers for consideration as surrogate endpoints
  • Description of nonclinical flexibility
  • Additional information on historical (external) controls and early randomization
  • Addition of safety section
  • Retitled Chemistry, Manufacturing, and Controls section to Pharmaceutical Quality Considerations
  • Additional information on changes to drug substance or manufacturing process with clarification on areas of flexibility
  • Addition of a considerations section addressing several topics including participation of patients, caretakers, and advocates; consideration of pediatric issues; and interactions with FDA

Comments may be submitted electronically through this portal at Regulations.gov, or in written form. For more information regarding this draft guidance and the submission process, please see this Federal Register notice.

HHS Comment Deadline: Assays and Approaches for Evaluating Chemical Effects on Cancer Pathways

The National Toxicology Program (NTP) at the National Institute of Environmental Health Sciences within the Department of Health and Human Services (HHS) is seeking input on assays and approaches for evaluating chemical effects on cancer pathways, specifically pathways that map to the hallmarks of cancer and key characteristics of carcinogens.

Cancer is a leading cause of mortality worldwide. While the defining feature of cancer is uncontrolled division of abnormal cells, it is a complex disease with varied presentations (i.e., different etiologies and target tissues) that involves dysregulation of multiple interconnected signaling pathways. Diverse environmental factors have been associated with the development and progression of various cancer types. A critical question in the field of environmental health is how to harness what is known about cancer biology and associated environmental exposures to improve public health outcomes. This Request for Information is in support of the Converging on Cancer Workshop, which is aimed at providing a clear path forward for evaluating the interactions between environmental exposures and cancer biology using the latest tools in toxicology and identifying knowledge gaps that require research attention. Potential applications of this understanding include building a framework for incorporating mechanistic data into cancer risk assessment, developing efficient and reliable screening tools to detect the carcinogenic potential of environmental chemicals (including mixtures), engineering safer products, and designing more effective multi-target therapeutics.  

The hallmarks of cancer (1) and key characteristics of carcinogens (2) offer two paradigms for organizing information to better understand the interactions between environmental exposures and biological systems that lead to cancer. The hallmarks of cancer represent the biological traits of tumors that allow for the unchecked growth of cancer, while the key characteristics framework begins with known human carcinogens and identifies their defining properties. It is clear from biomonitoring studies that we are constantly exposed to numerous structurally-diverse chemicals. A recent nomination to NTP was for development of a testing strategy to better understand how environmental chemicals might interact with multiple cancer-relevant biological pathways to elicit mixture effects that would not be expected based on single chemical considerations. This request for information (RFI) is intended to generate input that will facilitate new testing approaches designed to evaluate these hypotheses in a cancer context. Responses to the RFI should provide information on technologies targeting cancer-specific pathways and mechanisms, including organotypic and/or mechanistically insightful tools, preferred animal models, and in silico/computational approaches to link relevant pathways, as well as cancer types for use in evaluating hypotheses regarding the joint action of chemicals that target cancer pathways.

The NTP requests information regarding assays and approaches to measure the key biological mechanisms/pathways associated with chemical carcinogenesis. Responses to any or all of the questions below are invited from interested individuals/groups, including, but not limited to, the environmental health research community, health professionals, educators, policy makers, industry, and the public.

  • Systematic review approaches to transparently identify and evaluate mechanistic information on the carcinogenic properties of chemicals and chemical mixtures.
  • Assays associated with the biological mechanisms/pathways described by the hallmarks of cancer and the key characteristics of carcinogens.
  • Assays that integrate across multiple cancer-related pathways (e.g., organotypic microphysiological systems, mechanistic animal models).
  • Modeling approaches to assess the joint effects of multiple chemicals on carcinogenic potential.
  • Feedback on critical pathways and mechanisms to target when developing novel carcinogenicity testing strategies.
  • Feedback on cancer types conducive to exploring chemical interaction hypotheses.
  • Environmental chemicals known to affect key biological mechanisms/pathways leading to cancer and which key biological mechanisms/pathways are affected by these chemicals.
  • Types of scientific data (e.g., mechanistic, epidemiological) needed to address underlying knowledge gaps of chemical exposures leading to carcinogenesis.
  • New technologies and innovative research approaches that could be leveraged to address these underlying knowledge gaps.

Responses to this request are open to members of the public. Responses should be submitted via email to Cynthia V. Rider Ph.D. More information regarding the submission process and other additional information can be found at this notice.

HHS Webinar: Secretary's Advisory Committee on National Health Promotion and Disease Prevention Objectives for 2030

The US Department of Health and Human Services (HHS) will hold a meeting of the Secretary's Advisory Committee on National Health Promotion and Disease Prevention Objectives for 2030 regarding the development of national health promotion and disease prevention objectives for 2030. The Committee will discuss the nation's proposed health promotion and disease prevention objectives and will provide recommendations to improve health status and reduce health risks for the nation by the year 2030.

The Committee will deliberate recommendations regarding the proposed Healthy People 2030 objectives, activities designed to implement the disease prevention and health promotion goals and objectives for the nation, and graphics for communicating key Healthy People 2030 elements. Pursuant to the Committee's charter, the Committee's advice must assist the Secretary in reducing the number of objectives while ensuring that the selection criteria identifies the most critical public health issues that are high-impact priorities supported by current national data.

Through the Healthy People initiative, HHS leverages scientific insights and lessons from the past decade, along with new knowledge of current data, trends, and innovations, to develop the next iteration of national health promotion and disease prevention objectives. Healthy People provides science-based, 10-year national objectives for promoting health and preventing disease. Since 1979, Healthy People has set and monitored national health objectives that meet a broad range of health needs, encourage collaboration across sectors, guide individuals toward making informed health decisions, and measure the impact of our prevention and health promotion activities. Healthy People 2030 health objectives will reflect assessments of major risks to health and wellness, changing public health priorities, and emerging technologies related to our nation's health preparedness and prevention. During the February 26, 2019 Committee meeting, the Committee will discuss and deliberate recommendations regarding the proposed Healthy People 2030 objectives. During the March 27, 2019 Committee meeting, the Committee will develop recommendations regarding activities designed to implement the disease prevention and health promotion goals and objectives for the nation and graphics for communicating key Healthy People 2030 elements.

The meeting will be held via webinar and will be open to the public; individuals wishing to attend must register online. For more information regarding the meetings and registration, please see this Federal Register notice