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Governor Alejandro Garcia Padilla signs bill recognizing the need for more education, research into rare, serious genetic disorder.
San Juan, PR – May 16 – The U.S. Hereditary Angioedema Association (HAEA) announced today that Governor Alejandro Garcia Padilla signed into law PC 940 – a legislation recognizing May 16, 2012, as Hereditary Angioedema (HAE) Awareness Day. The legislation, authored by Representative Lydia Mendez, was passed unanimously by both the Puerto Rico House and Senate and is the result of political advocacy effort to generate recognition of the significant need for increased professional education regarding HAE, a rare and potentially fatal genetic disorder, and to highlight the need for further research aimed at improving diagnosis and treatment options for patients.
“The patients of Puerto Rico always come first. And the people suffering from this rare disease have been left behind. Hopefully this law will help them get better health services by creating awareness among the public and the health providers of what is the disease and what are the appropriate treatments for it,” stated Representative Lydia Mendez, Chairwoman of the House Health Committee.
“This first Puerto Rico annual HAE Awareness Day will put a spotlight on HAE, its symptoms, and the impact this challenging disorder has on patients and their families of the island,” said Janet Long, Executive Vice President of the HAEA. “We hope this national recognition will broaden awareness of HAE and prompt anyone who suffers from repeated bouts of swelling to seek appropriate diagnosis and treatment.”
Catalino Nieves, who has HAE and has had episodes for the last 48 years, express his satisfaction and gratitude towards the Government. “This is a great initiative that will help a lot of people understand and know more about the disease. I am sure it will help the quality of life of the patients,” expressed Nieves.
HAE involves episodes of edema, or swelling, in the face, feet, hands, throat, and abdomen. For most patients, HAE is caused by a defect or deficiency of the blood protein C1-esterase inhibitor. HAE experts estimate that this form of HAE occurs in 1 in 10,000 to 1 in 50,000 people. Swelling symptoms identical to HAE have been identified in families that have normal C1-esterase inhibitor levels. Commonly referred to as HAE with norma C1-INH, scientists are studying the possible causes for swelling in this patient group. HAE attacks that involve the face or throat can result in airway closure, asphyxiation and, if untreated, death. Because the disease is very rare, it is not uncommon for patients to remain undiagnosed for many years, receive inappropriate diagnoses or undergo unnecessary exploratory surgery. Medications approved by the Food and Drug Administration (FDA) for treating the symptoms of HAE are now available in the U.S.
The goals of HAE Awareness Day are to:
For more information about HAE Global Awareness Day, please visit www.haeday.org.
About the U.S. Hereditary Angioedema Association (HAEA)
Founded and staffed by HAE patients and HAE patient caregivers, the HAEA is a non-profit patient advocacy organization dedicated to serving persons with angioedema resulting from C1-Inhibitor deficiency. The Association provides HAE patients and their families with a support network and a wide range of services including physician referrals and individualized patient support. The HAEA’s goal is to increase awareness of Hereditary Angioedema by providing patients and physicians with authoritative and readily accessible information. The HAEA is committed to advancing and conducting clinical research designed to improve the lives of HAE patients and ultimately find a cure. To learn more about the HAEA or join the Association, visit www.HAEA.org, email email@example.com or call 866-798-5598.
LEIDEN, The Netherlands and SAN DIEGO, Calif. (April 17, 2013.) Pharming Group NV (NYSE Euronext: PHARM) and Santarus, Inc. (NASDAQ: SNTS) today announced the submission of a Biologics License Application (BLA) to the U.S. Food and Drug Administration (FDA) to obtain marketing approval for RUCONEST® (recombinant human C1 esterase inhibitor) 50 U/kg, an investigational drug for the treatment of acute angioedema attacks in patients with hereditary angioedema (HAE).
The safety and efficacy of RUCONEST for the treatment of HAE attacks were evaluated in a clinical program that included a Phase III randomized placebo-controlled study conducted under a Special Protocol Assessment agreement with the FDA. The pivotal Phase III clinical study showed statistically significant and clinically relevant improvement in the primary endpoint of time to beginning of relief of symptoms for RUCONEST compared with placebo. The RUCONEST clinical program also included two additional randomized placebo-controlled studies and four open label treatment studies. In total, the BLA dossier includes ten clinical studies covering 940 administrations in 236 subjects.
Santarus licensed certain exclusive rights from Pharming to commercialize RUCONEST in North America for the treatment of acute attacks of HAE as well as other potential future indications. Under the terms of the license agreement, a $5 million milestone is payable to Pharming upon FDA acceptance for review of the BLA for RUCONEST.Read full article
April 10, 2013: On May 16, 2013 patient organizations throughout the globe will hold events, meet-ings, and fundraisers to support the global awareness day for the life threatening condition Hereditary Angioedema (HAE). The global hae day :-) aims to raise worldwide awareness of HAE and advocate for more timely diagnosis as well as improved levels of care that enable patients to live a healthier life.
“HAE is a rare, debilitating, disabling, and life threatening genetic disorder that involves significant swelling to various parts of the body. Patients often have bouts of excruciating abdominal pain that is caused by swelling in the intestinal wall, and airway swelling can lead to death by asphyxiation”, explains Mr. Anthony J. Castaldo, President of Hereditary Angioedema International (HAEi), the international patient organization leading the awareness day.
HAE places extraordinary strain on patients, often restricting their ability to lead normal lives. Untreated HAE patients can lose 100 to 150 workdays per year, if not more. According to Mr. Henrik Balle Boysen, Executive Director of HAEi, the information disseminated through hae day :-) awareness raising activities will provide patients who have swelling symptoms and physicians with a reason to test for HAE:
“Unfortunately, significant delays in diagnosis are common in patients with HAE. The average time between the onset of symptoms and the diagnosis is around 10 years, often leaving the HAE patients subject to unnecessary medical procedures and surgery prior to receiving an accurate diagnosis. Indeed, spreading the word about HAE could be crucial in saving the lives of undiagnosed HAE patients around the world. HAE cannot yet be cured but intelligent use of available treatments can help patients lead a relatively normal life.”
Mr. Boysen adds that HAEi is very excited by the high level of hae day :-) commitment from HAE groups across the globe:
“We hope that their awareness day activities will make a real difference in improving diagnosis and treatment in their respective countries.”Read full article
RESEARCH TRIANGLE PARK, N.C.–(BUSINESS WIRE)– BioCryst Pharmaceuticals, Inc. (NASDAQ:BCRX) today announced the initiation of a Phase 1 clinical trial to evaluate the safety, pharmacokinetics and pharmacodynamics of orally-administered BCX4161 in healthy volunteers. Discovered by BioCryst, BCX4161 is a novel, selective inhibitor of plasma kallikrein in development for prevention of attacks in patients with hereditary angioedema (HAE).
“Daily, oral administration of a safe and efficacious prophylactic drug would revolutionize treatment for patients suffering from this serious condition,” said Jon P. Stonehouse, President & Chief Executive Officer of BioCryst. “BCX4161 has the potential to be the first oral treatment developed specifically for the prevention of HAE attacks.”
BioCryst has successfully completed nonclinical safety studies, as well as in vitro and in vivo studies in which BCX4161 exhibited potent and selective inhibition of plasma kallikrein and a favorable safety profile. A poster titled “BCX4161, A Small Molecule Orally Bioavailable Plasma Kallikrein Inhibitor, for the Treatment of Hereditary Angioedema” was presented at the 2013 American Academy of Allergy, Asthma & Immunology (AAAAI) Annual Meeting in February.
The main goals of the Phase 1 clinical trial are to assess safety, characterize plasma drug levels, and estimate the extent of kallikrein inhibition achieved after oral dosing of BCX4161. This clinical trial is being conducted at Quotient Clinical in the United Kingdom utilizing an integrated Translational PharmaceuticsTM platform and the results are expected to be announced in 2013. If the Phase 1 program achieves its goals, BioCryst plans to initiate a Phase 2 program in HAE patients.Read full article
San Juan, Puerto Rico [20 de marzo de 2013] Con júbilo y esperanza, así recibió Antonio Castaldo, presidente de la Asociación de Angioedema Hereditario de Estados Unidos, la noticia de que esta semana la Cámara de Representantes radicó un proyecto para declarar el 16 de mayo de cada año como el “Día de Concientización sobre la condición de Angioedema Hereditario (AEH)”, enfermedad genética poco común pero potencialmente mortal.
“Es un gran paso para quienes somos pacientes. Esta enfermedad afecta la vida diaria de quienes la padecen, muchas veces, debido a que sus síntomas se presentan con dolores intestinales, lo que provoca que los pacientes sean diagnosticados erróneamente o no son diagnosticados y esto pone en peligro su salud. No hay duda que ante una buena campaña de concientización cada vez podremos detectar más casos y ayudaremos a que estos pacientes puedan tener una vida normal”, explicó Castaldo.
El Proyecto de la Cámara 0940, presentado por la representante Lydia Méndez expone que el Secretario de Salud en coordinación con el Secretario de Estado emitirá una proclama para crear conciencia al pueblo puertorriqueño sobre la existencia de la enfermedad y propone promover la educación sobre el AEH entre la población. De igual forma, esboza que ambas agencias deberán adoptar las medidas necesarias para la consecución de los objetivos de esta medida. Puerto Rico se une a un esfuerzo internacional para crear conciencia sobre esta enfermedad.
“Hemos visto como a través del años conocemos más de la enfermedad y podemos ofrecer una mejor calidad de vida a los pacientes. Así que estamos muy satisfechos con que la Legislatura de Puerto Rico tenga como prioridad atender asuntos de salud pública entre los ciudadanos”, añadió.
El AEH tiene una incidencia que va de 1 en cada 30,000 personas. Se estima que en Puerto Rico existen 130 personas que sufren de esta enfermedad, diagnosticados y no diagnosticados. El Angioedema Hereditario Se produce en pacientes que presentan anomalías en el gen que controla una proteína en la sangre llamada C1-inhibitor. Para identificar esta anomalía es necesario pruebas de sangre. Para más información visite www.haea.org.Read full article