Yearly Archives: 2024

Rare Community Profiles: Stigma Stops Anal Cancer Screenings, But Dr. Gary Bucher is Ready to Start Conversations on the Importance of Anal Health
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Rare Community Profiles: Stigma Stops Anal Cancer Screenings, But Dr. Gary Bucher is Ready to Start Conversations on the Importance of Anal Health

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

Continue Reading Rare Community Profiles: Stigma Stops Anal Cancer Screenings, But Dr. Gary Bucher is Ready to Start Conversations on the Importance of Anal Health
Higher Sugar Intake Boosts Risk of Liver Fibrosis in Latino Teens
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Higher Sugar Intake Boosts Risk of Liver Fibrosis in Latino Teens

Professor Michael Goran was referring to research data that was presented at the annual 2023 conference of the Hepatology, Gastroenterology, and Nutrition Society of North America when he stressed that…

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A Potential Methylmalonic Acidemia Therapy Will be Developed Under the FDA’s START Pilot Program
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A Potential Methylmalonic Acidemia Therapy Will be Developed Under the FDA’s START Pilot Program

Rare diseases are challenging. Not just for those affected, but for researchers, physicians, and drug developers. Rare diseases may affect small populations. Many are poorly understood and lack adequate awareness.…

Continue Reading A Potential Methylmalonic Acidemia Therapy Will be Developed Under the FDA’s START Pilot Program
STUDY: Pitolisant Reduced Fatigue and Daytime Sleepiness in Adults with DM1
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STUDY: Pitolisant Reduced Fatigue and Daytime Sleepiness in Adults with DM1

An estimated 80% or more of people with myotonic dystrophy type 1 (DM1) struggle with severe fatigue and excessive daytime sleepiness (EDS). While most people consider myotonia (inability to contract…

Continue Reading STUDY: Pitolisant Reduced Fatigue and Daytime Sleepiness in Adults with DM1
Researchers Identify Underlying Disease Mechanism in RVCL
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Researchers Identify Underlying Disease Mechanism in RVCL

Researchers have previously linked TREX1 gene mutations to the development of a rare inherited small vessel disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL). What researchers didn't know was why these genetic…

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Volunteers Needed for Alpers Syndrome Study
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Volunteers Needed for Alpers Syndrome Study

Stemnovate is a biotechnology company working to transform the drug discovery landscape while improving diagnostics. Currently, the company hopes to develop a research platform for rare pediatric mitochondrial diseases such…

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Rare Community Profiles: The Only One Diagnosed in the US: Why Gabby is Starting Conversations on NLSD-M
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Rare Community Profiles: The Only One Diagnosed in the US: Why Gabby is Starting Conversations on NLSD-M

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

Continue Reading Rare Community Profiles: The Only One Diagnosed in the US: Why Gabby is Starting Conversations on NLSD-M
Mirum Pharmaceuticals: Results Available from PBC and PSC Studies on Volixibat
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Mirum Pharmaceuticals: Results Available from PBC and PSC Studies on Volixibat

Mirum Pharmaceuticals has long been a leader in the rare liver disease space, driving forward with a mission of empowering patients and families, and identifying novel therapeutic interventions to help…

Continue Reading Mirum Pharmaceuticals: Results Available from PBC and PSC Studies on Volixibat
Farxiga® has been FDA Approved to Treat Children and Adolescents in the U.S. for Type 2 Diabetes
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Farxiga® has been FDA Approved to Treat Children and Adolescents in the U.S. for Type 2 Diabetes

Ruud Dobber, executive VP of biopharmaceuticals at AstraZeneca was quoted in a press release dated saying that type 2 diabetes is on the rise in adolescents and younger children with…

Continue Reading Farxiga® has been FDA Approved to Treat Children and Adolescents in the U.S. for Type 2 Diabetes
Rare Community Profiles: Stiff Person Syndrome (SPS) Advocates Respond to Celine Dion’s Claims in “I Am: Celine Dion”
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Rare Community Profiles: Stiff Person Syndrome (SPS) Advocates Respond to Celine Dion’s Claims in “I Am: Celine Dion”

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

Continue Reading Rare Community Profiles: Stiff Person Syndrome (SPS) Advocates Respond to Celine Dion’s Claims in “I Am: Celine Dion”
Pfizer Acknowledges the Death of a Young Boy Who Died One Year After Participating in its Phase II Clinical Trial to Treat DMD
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Pfizer Acknowledges the Death of a Young Boy Who Died One Year After Participating in its Phase II Clinical Trial to Treat DMD

Pfizer has recently paused its Phase III clinical trial that has been assessing the Duchenne muscular dystrophy candidate fordadistrogene movaparvovec. The Phase II DAYLIGHT trial (NCT05429372), enrolled ten boys ages…

Continue Reading Pfizer Acknowledges the Death of a Young Boy Who Died One Year After Participating in its Phase II Clinical Trial to Treat DMD
FDA Approves Dosage Boost for Lambert-Eaton Myasthenic Syndrome Drug FIRDAPSE
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FDA Approves Dosage Boost for Lambert-Eaton Myasthenic Syndrome Drug FIRDAPSE

According to a story from Globe Newswire, the biopharmaceutical company Catalyst Pharmaceuticals has recently announced an update to the company's supplemental New Drug Application (sNDA) for its drug amifampridine (marketed…

Continue Reading FDA Approves Dosage Boost for Lambert-Eaton Myasthenic Syndrome Drug FIRDAPSE
FDA Removes Clinical Hold on Nomlabofusp Study for Friedreich’s Ataxia
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FDA Removes Clinical Hold on Nomlabofusp Study for Friedreich’s Ataxia

Three years after the U.S. Food and Drug Administration (FDA) first placed a full clinical hold on Larimar Therapeutics’ Phase 2 clinical study, the hold has officially been lifted. The…

Continue Reading FDA Removes Clinical Hold on Nomlabofusp Study for Friedreich’s Ataxia
ICYMI: FDA Approves BKEMV, A Soliris Biosimilar, for aHUS and PNH
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ICYMI: FDA Approves BKEMV, A Soliris Biosimilar, for aHUS and PNH

Have you ever heard of a biosimilar? A biosimilar is essentially a biologic that is highly similar in structure and function to a reference product. Although this might seem technical, it really…

Continue Reading ICYMI: FDA Approves BKEMV, A Soliris Biosimilar, for aHUS and PNH
The Impact of Artificial Intelligence: Predicting Visual Acuity in DME Following Vabysmo Treatment
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The Impact of Artificial Intelligence: Predicting Visual Acuity in DME Following Vabysmo Treatment

Artificial intelligence (AI) is changing the way we live. It seems rare to find an industry where AI has not made at least a preliminary impact. In politics, AI-generated cartoons…

Continue Reading The Impact of Artificial Intelligence: Predicting Visual Acuity in DME Following Vabysmo Treatment
Rare Community Profiles: A New Treatment Option on the Horizon: Zevra Therapeutics’ Dan Gallo Discusses Arimoclomol, the NDA PDUFA Date, and the Needs of the NPC Community
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Rare Community Profiles: A New Treatment Option on the Horizon: Zevra Therapeutics’ Dan Gallo Discusses Arimoclomol, the NDA PDUFA Date, and the Needs of the NPC Community

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

Continue Reading Rare Community Profiles: A New Treatment Option on the Horizon: Zevra Therapeutics’ Dan Gallo Discusses Arimoclomol, the NDA PDUFA Date, and the Needs of the NPC Community

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