NICE Guidance Recommends Upstaza for AADC Deficiency
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NICE Guidance Recommends Upstaza for AADC Deficiency

  In November 2022, the UK's Medicines and Healthcare Products Regulatory Agency (MHRA) approved Upstaza (eladocagene exuparvovec) for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. The product, which…

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Rare Classroom: Anaplasmosis
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Rare Classroom: Anaplasmosis

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most…

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Eyedrops Recalled After P. Aeruginosa Infections Killed 3, Injured 65
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Eyedrops Recalled After P. Aeruginosa Infections Killed 3, Injured 65

  Ezri Care Artificial Tears, as well as nine other ophthalmologic brands that create artificial tears or eyedrops, have been linked to dangerous Pseudomonas aeruginosa infections in people across sixteen different…

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LIVMARLI Now Approved for Children with Alagille Syndrome as Young as 3 Months Old
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LIVMARLI Now Approved for Children with Alagille Syndrome as Young as 3 Months Old

In many rare conditions, early diagnosis and treatment typically correspond with better outcomes. Prior to March 2023, LIVMARLI (maralixibat) was approved for the treatment of cholestatic pruritus related to Alagille…

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Rare Community Profiles: How the #RAREis Global Advocate Grant Supported the E. WE Foundation: A Discussion with Sarita Edwards
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Rare Community Profiles: How the #RAREis Global Advocate Grant Supported the E. WE Foundation: A Discussion with Sarita Edwards

Rare Community Profiles     Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…

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ICYMI: Evkeeza Now FDA-Approved for HoFH
Xanthoma is an easy sign of high cholesterol conditions like HeFH. If you see this, please go to the doctor immediately! Source: Wikipedia

ICYMI: Evkeeza Now FDA-Approved for HoFH

  While there are existing therapies for individuals living with homozygous familial hypercholesterolemia (HoFH), a rare form of high LDL cholesterol, these therapies often fail to control cholesterol levels for…

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Lundyn Roberts, Who Has Aicardi Syndrome, Was the MSU Kid Coach of the Week!
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Lundyn Roberts, Who Has Aicardi Syndrome, Was the MSU Kid Coach of the Week!

The Mississippi State University (MSU) Bulldogs joined forces with Children’s of Mississippi, the state’s only children’s hospital with statewide pediatric clinics, to honor pediatrics patients throughout Mississippi, sharing and uplifting…

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Rare Community Profiles: Diagnosed Before Birth: How the Sweatman Family Manages Their Son’s Hemophilia A
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Rare Community Profiles: Diagnosed Before Birth: How the Sweatman Family Manages Their Son’s Hemophilia A

Rare Community Profiles   Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families,…

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Running for a Cure 2023: A Fundraiser for GSD1B From the Sophie’s Hope Foundation
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Running for a Cure 2023: A Fundraiser for GSD1B From the Sophie’s Hope Foundation

Jamas and Margot LaFreniere started the Sophie's Hope Foundation in 2020 shortly after Sophie, their daughter, was diagnosed with a rare disease: glycogen storage disease type 1B (GSD1B). The mission…

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