Emmaus Life Sciences has announced that Endari, a medication developed to reduce acute complications in patients with sickle cell disease, is now available by prescription in the United States.

Sickle cell disease is an inherited blood disorder in which the body produces crescent shaped red blood cells that get caught in blood vessels, ultimately blocking blood flow. An altered form of hemoglobin caused by genetic mutations makes red blood cells fibrous and rigid which forms their abnormal shape.

Sickled red blood cells do not last as long as normal red blood cells, causing anemia to develop in patients. Signs that a patient could have sickle cell disease begin in early childhood and include anemia, repeated infections, and periodic episodes of pain, clinically defined as sickle cell crises.

 

Hypersensitivity to allergens in children with sickle cell anemia may increase the risk of acute chest syndrome, a study suggests. The study “Aeroallergen sensitization predicts acute chest syndrome in children with sickle cell anaemia” was published in the British Journal of Haematology. Diagnosing asthma in children with sickle cell anemia is tricky, but the disease is actually a serious risk factor for increased acute vaso-occlusive pain, acute chest syndrome and earlier death among these patients. Acute chest syndrome is a life-threatening lung-related complication of sickle cell disease characterized by low oxygen levels. Since increased sensitivity to allergens is a risk factor for asthma, a group of researchers “hypothesized that aeroallergen sensitization is associated with an increased incidence of hospitalizations for ACS [acute chest syndrome] and pain.”

The Boston school system has agreed to recognize sickle cell disease — which affects millions of Americans and is more common among blacks and Latinos — as a disability that interferes with a student’s education, the Globe has learned.

Students with the disease, a painful disorder that causes red blood cells to deform into a sickle shape and stick to vessel walls, often miss numerous days of school and fall behind on their class work due to hospitalization or side effects from their medication.

In the voluntary deal that Superintendent Tommy Chang signed with the US Department of Education’s Office for Civil Rights last month, the district said it will provide supplemental instruction to students with the disease, offer special accommodations, and work to ensure students’ educations do not suffer.

At age 4, musical prodigy Caesar Sant could play Vivaldi and Tchaikovsky on the violin, knew six languages and was easily doing third-grade math. At age 5, he had his first stroke. It was a blow that hit the reset button on the musical and intellectual prowess of Caesar, who had been diagnosed with sickle cell disease at birth and began playing violin at age 2. “I did my best to get better, but it was very scary because they put a bunch of needles in me and I could not move,” said Caesar, now 9. “This year my father will have the money, I hope so, to take me somewhere so I can have my transplant.”

Researchers found that treatment with hydroxyurea at currently approved doses for sickle cell anemia leads to a significant drop in total sperm count in men.

The study, “Adverse effect of hydroxyurea on spermatogenesis in patients with sickle cell anemia after six months of treatment,” was published in the journal Blood.

Progress in the treatment of sickle cell anemia (SCA) has allowed patients to live longer lives, reach reproductive age, and have children. One of the main reasons for the improvement in mortality and morbidity in patients with SCA is treatment with hydroxyurea.

Last week, the American Idol winner’s 16-year-old step-sister Bryanna Jackson-Frias died following complications from her lifelong battle with sickle cell anemia.

The disease, which is more common in people of African descent, causes red blood cells to stick to vessel walls, blocking blood flow and preventing oxygen from reaching tissues; the lack of oxygen can damage organs and cause pain so severe it requires hospitalization.

“She fought her entire life — all 16 years, in and out of hospitals. And she was so strong,” Sparks, 28, told PEOPLE Now exclusively on Wednesday. “She just dealt with it, you know, and there was never a complaint. I’m sure she had moments where she was like, ‘Okay, this hurts,’ but she was one of the strongest people that I’ve ever encountered.”

Global Blood Therapeutics, Inc. (GBT) today announced that the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation (BTD) to voxelotor (previously called GBT440) for the treatment of sickle cell disease (SCD). Voxelotor is being developed as a disease-modifying therapy for SCD and previously received European Medicines Agency (EMA) Priority Medicines (PRIME) designation for the treatment of SCD. “The FDA’s decision to grant voxelotor the first Breakthrough Therapy designation for the treatment of sickle cell disease reflects a recognition of the promising efficacy and safety data we have collected to date for this investigational drug, as well as an acknowledgement of the overwhelming need for major advances over available therapies in the treatment of SCD patients,” said Ted W. Love, president and chief executive officer of GBT. “This designation is another significant milestone for GBT as we work to expedite the development of voxelotor.”

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Rare Disease Day events are down to hundreds of patient organisations all over the world who work on a local and national level to raise awareness for the rare disease community in their countries.

 

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Now in its 12th year, Rare Disease Week on Capitol Hill empowers and inspires hundreds of advocates each year. The connections you make during the week will impact rare disease patients for generations to come.

Hosted by the Rare Disease Legislative Advocates (a program of the EveryLife Foundation for Rare Diseases), the multi-day event brings together rare disease advocates from across the country to make their voices heard by their Members of Congress. Participants are educated on policy proposals impacting the rare disease community and provided opportunities to advocate for policy changes directly to their Members of Congress. No matter one’s connection to rare disease or their advocacy experience level, all are welcome.

Date:
FEBRUARY 28TH – MARCH 2ND, 2023

 

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Twin brothers and New England Patriots stars, Devin and Jason McCourty are hosting the 2019 Tackle Sickle Cell Casino Night in Boston on Monday, October 28, 2019. This fundraiser takes place from 7:00 p.m. – 10:00 p.m. (VIP Red Carpet at 6:30pm) at Royale, located at 279 Tremont Street in Boston and benefits two Boston area nonprofits, Boston Medical Center and Next Step.

The McCourty Twins Tackle Sickle Cell campaign aims to educate the public and increase blood donors, as well as raise money and awareness for the fight against sickle cell disease.

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