Niemann-Pick Disease – Patient Worthy

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

Post author:Jessica Lynn
Post published:June 25, 2024
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

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.…

Fotocitizen / Pixabay

Rare Community Profiles: The Urgent Need for a Cure for Niemann-Pick Type C: Two Parents Share Their Perspectives

Post author:Jessica Lynn
Post published:April 10, 2024
Post category:Niemann-Pick Type C Disease

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.…

Pexels / Pixabay

Phase 2 Study Evaluates Nizubaglustat for Niemann-Pick Disease type C

Post author:Jessica Lynn
Post published:March 29, 2024
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

There are limited therapeutic interventions for those living with Niemann-Pick disease type C (NPC), a rare and progressive genetic disorder. Unfortunately, many people with NPC experience severe and life-threatening complications…

source: pixabay.com

Study of the Week: Niemann-Pick Disease Type C Biomarker Could Help Diagnose Congenital Disorders of Glycosylation

Post author:James Moore
Post published:April 24, 2023
Post category:Congenital disorders of glycosylation Niemann-Pick Disease Niemann-Pick Type C Disease

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…

source: pixabay.com

A Biomarker for Niemann-Pick Disease Type C Could Improve Congenital Disorders of Glycosylation Diagnosis

Post author:Jessica Lynn
Post published:April 17, 2023
Post category:Congenital disorders of glycosylation Niemann-Pick Disease Niemann-Pick Type C Disease

Let’s start with a little vocabulary lesson. Today’s word? Biomarker. A biological marker, or biomarker, refers to some sort of measurable indicator of disease. For example, blood pressure, cellular gene…

source: pixabay.com

Teen with NPC Becomes Prom Queen for her Birthday

Post author:Jessica Lynn
Post published:September 26, 2022
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

It has been four years since Amaria Granger, now age 14, was diagnosed with a rare disease called Niemann-Pick disease type C (NPC). Since being diagnosed with NPC, Amaria…

Free-Photos / Pixabay

Uncle Walks 62 Miles to Raise Niemann-Pick Funds and Awareness

Post author:Jessica Lynn
Post published:July 21, 2022
Post category:Niemann-Pick Disease

Shortly after he was born, Asa Burnside was diagnosed with Niemann-Pick disease type A, a rare genetic metabolic disorder. Since then, Asa has brought so much joy to his family’s…

source: pixabay.com

A New Treatment for Acid Sphingomyelinase Deficiency Could be Approved in the EU Soon

Post author:James Moore
Post published:May 25, 2022
Post category:Acid Sphingomyelinase Deficiency

According to a story from Globe Newswire, The European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) has recently announced a positive opinion in regards to the experimental…

source: pixabay.com

Qualitative Study Highlights Need for Increased ASMD Caregiver Support

Post author:James Moore
Post published:February 28, 2022
Post category:Acid Sphingomyelinase Deficiency Niemann-Pick Disease

Written By Joslyn Crowe Caring for someone with a rare disease, especially a child or a family member, can be a difficult and emotional experience. Many people become a caregiver…

Courtesy of Debbie Kaflowitz

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 3)

Post author:Jessica Lynn
Post published:December 1, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

To learn more about Rachael's story, Niemann-Pick type C (NPC) symptoms, the diagnostic process, and how her mother Debbie found and offered support to other families, take a look at Parts…

“Save Our Medicine:” NPC Families Fight to Save Experimental Medication Access (Pt. 1)

Post author:Jessica Lynn
Post published:November 30, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

If your child was sick and there was a real, viable treatment option, the next step seems pretty straightforward: pursuing that option. But what if it wasn’t that easy? What…

Courtesy of Debbie Kaflowitz

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 2)

Post author:Jessica Lynn
Post published:November 30, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

In Part 1 of Rachael's story, I spoke with her mother Debbie about what Niemann-Pick type C (NPC) is, the beginning of the diagnostic journey, and how Dr. Behar helped…

Courtesy of Debbie Kaflowitz

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 1)

Post author:Jessica Lynn
Post published:November 29, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

“Hi, I’m Rachael, and I’m forever 33.” When Debbie Kaflowitz remembers her daughter, she thinks about everything that Rachael loved to do. Rachael enjoyed dancing and performing in ballet recitals,…

Source: Elsa Burgos

INTERVIEW: Changing the Future for NPC

Post author:Jessica Lynn
Post published:September 29, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

In 1992, Elsa Burgos and her husband, living in Puerto Rico at the time, welcomed a new addition to their lives: their daughter Nicole. The pair were thrilled to have…

source: pixabay.com

New Trappsol Cyclo Safety and Efficacy Data Available for NPC1

Post author:Jessica Lynn
Post published:August 6, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

On July 30, 2021, biopharmaceutical company Cyclo Therapeutics shared that it had released new and promising data regarding the safety, efficacy, and tolerability of Trappsol® Cyclo™ ("Trappsol Cyclo") for patients with…

source: pixabay.com

Enrollment Begins for Phase 3 Niemann-Pick Disease Type C1 Trial

Post author:James Moore
Post published:July 16, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

According to a story from MarketWatch, the biotechnology company Cyclo Therapeutics announced that is has proceeded with the enrollment for its phase 3 clinical trial. This trial will evaluate an…

OLE Trial Data Shows Arimoclomol Efficacy for NPC

Post author:Jessica Lynn
Post published:July 7, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

In the past, arimoclomol has not always shown treatment promise. For example, the drug failed to meet primary or secondary endpoints in a clinical trial evaluating arimoclomol for patients with…

https://pixabay.com/photos/swing-playground-children-playing-1188132/

Audrey’s Story: Life With Niemann-Pick Disease Type C

Post author:Kendall Mason
Post published:April 12, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

Three people in the state of Indiana live with Niemann-Pick disease type C (NPC), and Audrey Mischler is one of them according to WTHI-TV 10. She was diagnosed very recently,…

source: pixabay.com

This Drug Saves Niemann-Pick Disease Type C Patients. It’s Being Pulled in Six Months.

Post author:James Moore
Post published:April 9, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

According to a story from Scary Mommy, mother Sara McGlockin recently received devastating news: the drug that was successfully treating her five year old daughter Marian was being discontinued in…

Parents Receive News That Their Child’s Niemann-Pick Disease Medication Will be Discontinued

Post author:Rose Duesterwald
Post published:March 25, 2021
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

Marian McGlockin was eighteen months old when she was diagnosed with Niemann-Pick Type C disease, a rare and fatal disorder. Marian could barely speak and was unable to walk. According…

Advocating for Acid Sphingomyelinase Deficiency: A Rare Disease Story

Post author:James Moore
Post published:November 5, 2020
Post category:Acid Sphingomyelinase Deficiency Niemann-Pick Disease

Purnell was Taylor and Sam Sabky’s first child, and they couldn’t have been more excited for his arrival and the pregnancy and delivery happened without any major issues. For the…

qimono / Pixabay

IB1001 Effective for NPC Treatment, Study Says

Post author:Jessica Lynn
Post published:October 20, 2020
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease Rare Disease

According to Newswise, data from a recent clinical trial evaluating IB1001 for patients with Niemann-Pick disease type C (NPC) shows the therapy as effective, safe, and well-tolerated. Sponsored by biopharmaceutical…

source: pixabay.com

Dr. Justin Hopkin: Doctor, Parent, and Rare Disease Advocate

Post author:James Moore
Post published:October 19, 2020
Post category:Acid Sphingomyelinase Deficiency Niemann-Pick Disease Rare Disease

Dr. Justin Hopkin's son Garrett was born happy and healthy, but when he was around four to six months old, his parents began to notice some problems. Garrett was having…

source: pixabay.com

New Drug Application for Niemann-Pick Disease Type C Treatment

Post author:Kendall Mason
Post published:July 22, 2020
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

Orphazyme has recently submitted their New Drug Application to the FDA for their Niemann-Pick disease type C (NPC) treatment, arimoclomol. This application comes after the biopharmaceutical company was already granted…

source: pixabay.com

New Drug Application for Niemann-Pick Disease Type C Treatment Submitted Under Rolling Review

Post author:James Moore
Post published:June 5, 2020
Post category:Amyotrophic Lateral Sclerosis Gaucher Disease Inclusion Body Myositis Niemann-Pick Disease Niemann-Pick Type C Disease

According to a story from globenewswire.com, the biopharmaceutical company Orphazyme A/S has recently announced that it has submitted its New Drug Application (NDA) for its experimental treatment arimoclomol to the…

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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: The Urgent Need for a Cure for Niemann-Pick Type C: Two Parents Share Their Perspectives

Phase 2 Study Evaluates Nizubaglustat for Niemann-Pick Disease type C

Study of the Week: Niemann-Pick Disease Type C Biomarker Could Help Diagnose Congenital Disorders of Glycosylation

A Biomarker for Niemann-Pick Disease Type C Could Improve Congenital Disorders of Glycosylation Diagnosis

Teen with NPC Becomes Prom Queen for her Birthday

Uncle Walks 62 Miles to Raise Niemann-Pick Funds and Awareness

A New Treatment for Acid Sphingomyelinase Deficiency Could be Approved in the EU Soon

Qualitative Study Highlights Need for Increased ASMD Caregiver Support

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 3)

“Save Our Medicine:” NPC Families Fight to Save Experimental Medication Access (Pt. 1)

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 2)

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 1)

INTERVIEW: Changing the Future for NPC

New Trappsol Cyclo Safety and Efficacy Data Available for NPC1

Enrollment Begins for Phase 3 Niemann-Pick Disease Type C1 Trial

OLE Trial Data Shows Arimoclomol Efficacy for NPC

Audrey’s Story: Life With Niemann-Pick Disease Type C

This Drug Saves Niemann-Pick Disease Type C Patients. It’s Being Pulled in Six Months.

Parents Receive News That Their Child’s Niemann-Pick Disease Medication Will be Discontinued

Advocating for Acid Sphingomyelinase Deficiency: A Rare Disease Story

IB1001 Effective for NPC Treatment, Study Says

Dr. Justin Hopkin: Doctor, Parent, and Rare Disease Advocate

New Drug Application for Niemann-Pick Disease Type C Treatment

New Drug Application for Niemann-Pick Disease Type C Treatment Submitted Under Rolling Review

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