TBD Meeting (5375-18)

WASHINGTON – Pediatric indications appeared in approximately 36% of orphan drug approvals between 2000 and 2017, according to data from the Food and Drug Administration.

“Given the impact of rare disease on children, it is of particular interest to better understand where new drug approvals and advances are occurring, through the lens of pediatrics,” said Kathleen L. Miller, Ph.D., and Michael Lanthier of the Food and Drug Administration in Silver Spring, Md. They presented their findings in a poster at the NORD Rare Summit, held by the National Organization for Rare Disorders.

Overall, 31% of 314 orphan drug approvals by the FDA between 2000 and 2017 had a pediatric and adult indication, 5% had pediatric-only indications, and 64% had adult-only indications.

For the 112 pediatric indication approvals, 14% were for inherited blood disorders, 14% for inherited metabolic disorders, 13% for rare cancers, 10% for antidotes and medical countermeasures, 9% for infectious diseases, 8% for auto-inflammatory diseases, 7% for neurologic disorders, and 25% for other conditions.

Approximately 63% of the total orphan drug approvals during the study period were for rare cancers or genetic disorders (138 approvals and 59 approvals, respectively). Although 90% of the rare cancer approvals were for adults only, 84% of genetic disorder drug approvals had pediatric indications, Dr. Miller and Mr. Lanthier noted.

When analyzed by submission type, pediatric indications were included in 52% of new orphan formulations, 35% of orphan secondary indication approvals, and 32% of new molecular entity approvals.

Although more research is needed, the results suggest that “pediatric indications represent a sizable proportion of orphan drug approvals in both a range of therapeutic areas and in a range of approval types,” the investigators concluded.

The researchers are employed by the FDA, which sponsored the study. They had no financial conflicts to disclose.

WASHINGTON – Pediatric indications appeared in approximately 36% of orphan drug approvals between 2000 and 2017, according to data from the Food and Drug Administration.

“Given the impact of rare disease on children, it is of particular interest to better understand where new drug approvals and advances are occurring, through the lens of pediatrics,” said Kathleen L. Miller, Ph.D., and Michael Lanthier of the Food and Drug Administration in Silver Spring, Md. They presented their findings in a poster at the NORD Rare Summit, held by the National Organization for Rare Disorders.

Overall, 31% of 314 orphan drug approvals by the FDA between 2000 and 2017 had a pediatric and adult indication, 5% had pediatric-only indications, and 64% had adult-only indications.

For the 112 pediatric indication approvals, 14% were for inherited blood disorders, 14% for inherited metabolic disorders, 13% for rare cancers, 10% for antidotes and medical countermeasures, 9% for infectious diseases, 8% for auto-inflammatory diseases, 7% for neurologic disorders, and 25% for other conditions.

Approximately 63% of the total orphan drug approvals during the study period were for rare cancers or genetic disorders (138 approvals and 59 approvals, respectively). Although 90% of the rare cancer approvals were for adults only, 84% of genetic disorder drug approvals had pediatric indications, Dr. Miller and Mr. Lanthier noted.

When analyzed by submission type, pediatric indications were included in 52% of new orphan formulations, 35% of orphan secondary indication approvals, and 32% of new molecular entity approvals.

Although more research is needed, the results suggest that “pediatric indications represent a sizable proportion of orphan drug approvals in both a range of therapeutic areas and in a range of approval types,” the investigators concluded.

The researchers are employed by the FDA, which sponsored the study. They had no financial conflicts to disclose.

WASHINGTON – Pediatric indications appeared in approximately 36% of orphan drug approvals between 2000 and 2017, according to data from the Food and Drug Administration.

“Given the impact of rare disease on children, it is of particular interest to better understand where new drug approvals and advances are occurring, through the lens of pediatrics,” said Kathleen L. Miller, Ph.D., and Michael Lanthier of the Food and Drug Administration in Silver Spring, Md. They presented their findings in a poster at the NORD Rare Summit, held by the National Organization for Rare Disorders.

Overall, 31% of 314 orphan drug approvals by the FDA between 2000 and 2017 had a pediatric and adult indication, 5% had pediatric-only indications, and 64% had adult-only indications.

For the 112 pediatric indication approvals, 14% were for inherited blood disorders, 14% for inherited metabolic disorders, 13% for rare cancers, 10% for antidotes and medical countermeasures, 9% for infectious diseases, 8% for auto-inflammatory diseases, 7% for neurologic disorders, and 25% for other conditions.

Approximately 63% of the total orphan drug approvals during the study period were for rare cancers or genetic disorders (138 approvals and 59 approvals, respectively). Although 90% of the rare cancer approvals were for adults only, 84% of genetic disorder drug approvals had pediatric indications, Dr. Miller and Mr. Lanthier noted.

When analyzed by submission type, pediatric indications were included in 52% of new orphan formulations, 35% of orphan secondary indication approvals, and 32% of new molecular entity approvals.

Although more research is needed, the results suggest that “pediatric indications represent a sizable proportion of orphan drug approvals in both a range of therapeutic areas and in a range of approval types,” the investigators concluded.

The researchers are employed by the FDA, which sponsored the study. They had no financial conflicts to disclose.

WASHINGTON – Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.

However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.

Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.

WASHINGTON – Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.

However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.

Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.

WASHINGTON – Genetic developments may create a new medical model for patients with rare diseases and the doctors who treat them, according to Marshall Summar, MD, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C.

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Dr. Summar and Peter L. Saltonstall, president and CEO of NORD, discussed hot topics in the rare disease field. Those include new knowledge of the natural history of rare diseases, made possible by the creation of patient databases and the expansion of genetic technology. In addition, some DNA therapies “are finally crossing the finish line,” said Dr. Summar. That means clinicians will be looking at some rare diseases as acute conditions rather than chronic.

However, patients with rare diseases continue to face challenges in terms of the need for prior authorization and for drug access. One of NORD’s missions is to help patients access treatment. “We are seeing these prior authorizations take weeks or even longer,” Mr. Saltonstall said – and meanwhile, patients aren’t receiving therapy.

Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Dr. Summar and Mr. Saltonstall had no financial conflicts to disclose.

WASHINGTON – Physicians in primary and specialty care can provide guidance and support to patients with rare diseases by educating themselves about the resources available, according to Tim Boyd, director of state policy for the National Organization for Rare Disorders (NORD).

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Mr. Boyd and Melinda Burnworth, PharmD, a pharmacist and NORD state volunteer from Arizona, discussed challenges faced by patients with rare diseases, including securing a correct diagnosis, accessing medication, and managing treatment going forward.

Physicians who understand some of the barriers to medication access can help advocate for their patients, explained Mr. Boyd, and those who know about resources for rare disorders can help make a diagnosis.

“All health care providers have an opportunity to enhance care for patients with rare disorders,” said Dr. Burnworth, author of the Rare Disease eResource Guide, available through the American Society of Health-System Pharmacists. Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Mr. Boyd and Dr. Burnworth had no financial conflicts to disclose.

WASHINGTON – Physicians in primary and specialty care can provide guidance and support to patients with rare diseases by educating themselves about the resources available, according to Tim Boyd, director of state policy for the National Organization for Rare Disorders (NORD).

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Mr. Boyd and Melinda Burnworth, PharmD, a pharmacist and NORD state volunteer from Arizona, discussed challenges faced by patients with rare diseases, including securing a correct diagnosis, accessing medication, and managing treatment going forward.

Physicians who understand some of the barriers to medication access can help advocate for their patients, explained Mr. Boyd, and those who know about resources for rare disorders can help make a diagnosis.

“All health care providers have an opportunity to enhance care for patients with rare disorders,” said Dr. Burnworth, author of the Rare Disease eResource Guide, available through the American Society of Health-System Pharmacists. Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Mr. Boyd and Dr. Burnworth had no financial conflicts to disclose.

WASHINGTON – Physicians in primary and specialty care can provide guidance and support to patients with rare diseases by educating themselves about the resources available, according to Tim Boyd, director of state policy for the National Organization for Rare Disorders (NORD).

In an interview at the NORD Rare Summit, held by the National Organization for Rare Disorders, Mr. Boyd and Melinda Burnworth, PharmD, a pharmacist and NORD state volunteer from Arizona, discussed challenges faced by patients with rare diseases, including securing a correct diagnosis, accessing medication, and managing treatment going forward.

Physicians who understand some of the barriers to medication access can help advocate for their patients, explained Mr. Boyd, and those who know about resources for rare disorders can help make a diagnosis.

“All health care providers have an opportunity to enhance care for patients with rare disorders,” said Dr. Burnworth, author of the Rare Disease eResource Guide, available through the American Society of Health-System Pharmacists. Visit rarediseases.org for more information about NORD’s ongoing research and advocacy efforts.

Mr. Boyd and Dr. Burnworth had no financial conflicts to disclose.

WASHINGTON – Ataxia is the most common symptom at disease onset in patients with opsoclonus-myoclonus syndrome (OMS), a rare disease affecting only 1 in 5,000,000 individuals, mostly aged 1-5 years, based on data from a new patient registry.

In partnership with the National Organization of Rare Disorders (NORD) the nonprofit OMSLife Foundation has created a patient registry to better understand the disease experience in patients, wrote Mike Michaelis, chairman of OMSLife, and his colleagues. Early data from 275 enrolled patients were presented in a poster at the NORD Rare Summit, held by the National Organization for Rare Disorders.

The registry patients were mainly born in the United States (86%) and white (74%); approximately half were female. Of 150 patients who indicated symptoms at onset, 87% reported ataxia. Additional symptoms at onset were myoclonus (61%), opsoclonus (59%), tremors (46%), sleep disturbances (45%), temper tantrums (38%), vomiting (27%), fever (13%), headache (9%) and other symptoms (13%).

The researchers reviewed associations of symptoms at onset to determine the frequency of other symptoms for each individual symptom. Ataxia was present with 89% or higher instances of the other reported symptoms. Of note, some symptoms occurred more frequently than expected, such as temper tantrums and tremors in approximately 70% of patients with sleep disturbances. Myoclonus and opsoclonus, as well as fever and vomiting, also were significantly associated with the presence of other symptoms.

Two-thirds of the registry patients (69%) were diagnosed within 3 months of symptom onset, and 83% of these were diagnosed by a neurologist. Based on the Mitchell-Pike OMS severity scale, 59% of the patients met criteria for severe disease, 34% were classified as moderate, and 7% were mild. The registry is ongoing, but the current data provide insight on the clinical picture and common symptoms of OMS, the researchers said.

OMS Life was established in 2012 to support patients, caregivers, and researchers in raising awareness of opsoclonus-myoclonus syndrome as well as funds for research.

The study was supported by the OMSLife Foundation, NORD, and Trio Health Analytics. The researchers are employed by these organizations.

WASHINGTON – Ataxia is the most common symptom at disease onset in patients with opsoclonus-myoclonus syndrome (OMS), a rare disease affecting only 1 in 5,000,000 individuals, mostly aged 1-5 years, based on data from a new patient registry.

In partnership with the National Organization of Rare Disorders (NORD) the nonprofit OMSLife Foundation has created a patient registry to better understand the disease experience in patients, wrote Mike Michaelis, chairman of OMSLife, and his colleagues. Early data from 275 enrolled patients were presented in a poster at the NORD Rare Summit, held by the National Organization for Rare Disorders.

The registry patients were mainly born in the United States (86%) and white (74%); approximately half were female. Of 150 patients who indicated symptoms at onset, 87% reported ataxia. Additional symptoms at onset were myoclonus (61%), opsoclonus (59%), tremors (46%), sleep disturbances (45%), temper tantrums (38%), vomiting (27%), fever (13%), headache (9%) and other symptoms (13%).

The researchers reviewed associations of symptoms at onset to determine the frequency of other symptoms for each individual symptom. Ataxia was present with 89% or higher instances of the other reported symptoms. Of note, some symptoms occurred more frequently than expected, such as temper tantrums and tremors in approximately 70% of patients with sleep disturbances. Myoclonus and opsoclonus, as well as fever and vomiting, also were significantly associated with the presence of other symptoms.

Two-thirds of the registry patients (69%) were diagnosed within 3 months of symptom onset, and 83% of these were diagnosed by a neurologist. Based on the Mitchell-Pike OMS severity scale, 59% of the patients met criteria for severe disease, 34% were classified as moderate, and 7% were mild. The registry is ongoing, but the current data provide insight on the clinical picture and common symptoms of OMS, the researchers said.

OMS Life was established in 2012 to support patients, caregivers, and researchers in raising awareness of opsoclonus-myoclonus syndrome as well as funds for research.

The study was supported by the OMSLife Foundation, NORD, and Trio Health Analytics. The researchers are employed by these organizations.

WASHINGTON – Ataxia is the most common symptom at disease onset in patients with opsoclonus-myoclonus syndrome (OMS), a rare disease affecting only 1 in 5,000,000 individuals, mostly aged 1-5 years, based on data from a new patient registry.

In partnership with the National Organization of Rare Disorders (NORD) the nonprofit OMSLife Foundation has created a patient registry to better understand the disease experience in patients, wrote Mike Michaelis, chairman of OMSLife, and his colleagues. Early data from 275 enrolled patients were presented in a poster at the NORD Rare Summit, held by the National Organization for Rare Disorders.

The registry patients were mainly born in the United States (86%) and white (74%); approximately half were female. Of 150 patients who indicated symptoms at onset, 87% reported ataxia. Additional symptoms at onset were myoclonus (61%), opsoclonus (59%), tremors (46%), sleep disturbances (45%), temper tantrums (38%), vomiting (27%), fever (13%), headache (9%) and other symptoms (13%).

The researchers reviewed associations of symptoms at onset to determine the frequency of other symptoms for each individual symptom. Ataxia was present with 89% or higher instances of the other reported symptoms. Of note, some symptoms occurred more frequently than expected, such as temper tantrums and tremors in approximately 70% of patients with sleep disturbances. Myoclonus and opsoclonus, as well as fever and vomiting, also were significantly associated with the presence of other symptoms.

Two-thirds of the registry patients (69%) were diagnosed within 3 months of symptom onset, and 83% of these were diagnosed by a neurologist. Based on the Mitchell-Pike OMS severity scale, 59% of the patients met criteria for severe disease, 34% were classified as moderate, and 7% were mild. The registry is ongoing, but the current data provide insight on the clinical picture and common symptoms of OMS, the researchers said.

OMS Life was established in 2012 to support patients, caregivers, and researchers in raising awareness of opsoclonus-myoclonus syndrome as well as funds for research.

The study was supported by the OMSLife Foundation, NORD, and Trio Health Analytics. The researchers are employed by these organizations.