Specialized Information: Niemann Pick Disease

IntraBio Announces U.S. FDA Accepts New Drug Application for IB1001 for the Treatment of Niemann-Pick Disease Type C

Drugs.com - New Drug Applications — Wed, 10 Apr 2024 14:53:19 +0100

March 26, 2024 -- IntraBio Inc today announced that the U.S. Food and Drug Administration (FDA) has accepted its New Drug Application (NDA) for IB1001 for the treatment of Niemann-Pick disease Type C (NPC). The application has been granted Priority... (Source: Drugs.com - New Drug Applications)

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Zevra Therapeutics Provides FDA Update On The PDUFA Action Date For Arimoclomol As A Treatment For Niemann-Pick Disease Type C

Drugs.com - New Drug Applications — Wed, 10 Apr 2024 14:53:19 +0100

CELEBRATION, Fla., March 04, 2024 (GLOBE NEWSWIRE) -- Zevra Therapeutics, Inc. (NasdaqGS: ZVRA) (Zevra or the Company), a rare disease therapeutics company, today announced the U.S. Food and Drug Administration (FDA) has extended the review period... (Source: Drugs.com - New Drug Applications)

Treatment With N-Acetyl-L-Leucine Beneficial for Niemann-Pick Disease

Drugs.com - Pharma News — Wed, 10 Apr 2024 14:53:19 +0100

THURSDAY, Feb. 1, 2024 -- Treatment with N-acetyl-L-leucine (NALL) for 12 weeks yields better neurological status than placebo among patients with genetically confirmed Niemann-Pick disease type C, according to a study published in the Feb. 1 issue... (Source: Drugs.com - Pharma News)

Potentially Protective Agent Shows Benefit in Niemann-Pick Type C

MedPage Today Neurology — Wed, 10 Apr 2024 14:53:19 +0100

(MedPage Today) -- Patients with Niemann-Pick disease type C who received N-acetyl-L-leucine (NALL), an agent that potentially ameliorates lysosomal and metabolic dysfunction, showed reduced neurologic signs and symptoms after 3 months, a phase... (Source: MedPage Today Neurology)

FDA Acceptance of Zevra's Arimoclomol NDA Filing for Niemann-Pick Disease Type C (NPC) Results in XOMA Making a $1 Million Milestone Payment to LadRx

Reuters: Health — Wed, 10 Apr 2024 14:53:19 +0100

EMERYVILLE, Calif., Jan. 11, 2024 (GLOBE NEWSWIRE) -- XOMA Corporation XOMA, the biotech royalty aggregator, announced today that based upon the U.S. Food and Drug Administration's (FDA) acceptance of Zevra Therapeutics' New Drug Application (NDA) for arimoclomol, an orally-delivered,…#emeryville #xomacorporationxoma #fda #nda #npc #xoma #ladrx #arimoclomol #bradsitko #zevra (Source: Reuters: Health)

Zevra Therapeutics Announces Resubmission of Arimoclomol New Drug Application to the U.S. Food and Drug Administration

Reuters: Health — Wed, 10 Apr 2024 14:53:19 +0100

CELEBRATION, Fla., Dec. 27, 2023 (GLOBE NEWSWIRE) -- Zevra Therapeutics, Inc. ZVRA a rare disease therapeutics company, today announced it resubmitted its New Drug Application (NDA) for arimoclomol, an investigational therapeutic candidate for the treatment of Niemann-Pick disease type C (NPC) to…#celebration #fla #zevratherapeuticsinc #newdrugapplication #nda #npc #fda #pdufa #zevra #neilmcfarlane (Source: Reuters: Health)

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Citizen Scientists Are Driving Medical Research. Now They Need A Constitution

TIME: Health — Wed, 10 Apr 2024 14:53:19 +0100

More than a dozen people showed up in November, 2007, at the National Institutes of Health (NIH) lab run by Christopher Austin. The parents of children dying from the lethal cholesterol metabolism disorder, Niemann-Pick disease type C (NPC), gathered alongside scientists and doctors looking for a treatment. They wanted to work together to find effective drugs and get them into clinical trials within a few years, accelerating the typical timeline for drug development. They hoped to find a compound that might extend the lives of children with the rare disease, who typically died by age 19. In terms of the science, the meeting was a success. Dr. Austin’s lab had built a robotics system that rivaled ones found at pharmaceutical companies, enabling the rapid screening of drug libraries. B...

What Are Causes of Childhood Interstital Lung Disease?

PediatricEducation.org — Wed, 10 Apr 2024 14:53:19 +0100

Discussion Interstitial lung disease in children (chILD) is less understood than adult interstitial lung disease (ILD) and is rare. Prevalence is ~ 0.13 to 16.2 per 100,000 children under age 17 years. chILD is an general term for respiratory disorders that are heterogeneous, chronic and impair lung function. While some define diffuse parenchymal lung disease (DPLD) separately, the term ILD usually encompases DPLD. chILD has variable definitions and is “usually diagnosed if three of the following features are present: 1) respiratory symptoms (cough, rapid and/or difficult breathing, and exercise intolerance), 2) respiratory signs (tachypnea, adventitious sounds, retractions, digital clubbing, and failure to thrive or respiratory failure), 3) hyposemia, and 4) diffuse abnormalities o...

Endpoint Considerations to Facilitate Drug Development for Niemann-Pick Type C (NPC): Key Themes and Future Directions from the January 2022 Public Workshop - 08/04/2022

FDA Center for Drug Evaluation and Research - What's New — Wed, 10 Apr 2024 14:53:19 +0100

Endpoint Considerations to Facilitate Drug Development for Niemann-Pick Type C (NPC): Key Themes and Future Directions from the January 2022 Public Workshop (Source: FDA Center for Drug Evaluation and Research - What's New)

Orphazyme Provides Update for Planned NDA Resubmission for Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the United States

Drugs.com - New Drug Applications — Wed, 10 Apr 2024 14:53:19 +0100

Copenhagen, Denmark, February 11, 2022 – Orphazyme A/S (ORPHA.CO; ORPH) (“Orphazyme” or the“Company”), a late-stage biopharmaceutical company pioneering the Heat-Shock Protein response for the... (Source: Drugs.com - New Drug Applications)

Endpoint Considerations to Facilitate Drug Development for Niemann-Pick Type C (NPC) Public Workshop - 01/24/2022 - 01/25/2022

FDA Center for Drug Evaluation and Research - What's New — Wed, 10 Apr 2024 14:53:19 +0100

Endpoint Considerations to Facilitate Drug Development for Niemann-Pick Type C (NPC) Public Workshop (Source: FDA Center for Drug Evaluation and Research - What's New)

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Orphazyme Provides Regulatory Update from FDA on Arimoclomol for Niemann-Pick Disease Type C

Drugs.com - New Drug Applications — Wed, 10 Apr 2024 14:53:19 +0100

Copenhagen – June 18, 2021 – Orphazyme A/S (ORPHA.CO; ORPH), a late-stage biopharmaceutical company pioneering the heat shock protein response for the treatment of rare diseases, today announced it has received a... (Source: Drugs.com - New Drug Applications)

Polaryx Therapeutics Receives Both Rare Pediatric Disease and Orphan Drug Designations for the Treatment of Niemann Pick Disease Types A and B With PLX-300

HSMN NewsFeed — Wed, 10 Apr 2024 14:53:19 +0100

PARAMUS, N.J., Dec. 18, 2020 -- (Healthcare Sales & Marketing Network) -- Polaryx Therapeutics, Inc., a biotech company developing small molecule therapeutics for lysosomal storage disorders, announced today that it has received from the U.S. Food and Dru... Biopharmaceuticals, Neurology, FDA Polaryx Therapeutics, Niemann Pick Disease (Source: HSMN NewsFeed)

Orphazyme Announces FDA Acceptance and Priority Review of New Drug Application for Arimoclomol for Niemann-Pick Disease Type C

Drugs.com - New Drug Applications — Wed, 10 Apr 2024 14:53:19 +0100

Copenhagen, Denmark, September 16, 2020– Orphazyme A/S (ORPHA.CO), a late-stage biopharmaceutical company pioneering the Heat-Shock Protein response for the treatment of neurodegenerative orphan diseases, today announced that the U.S.... (Source: Drugs.com - New Drug Applications)

Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease

National Institutes of Health (NIH) News Releases — Wed, 10 Apr 2024 14:53:19 +0100

NIH observational study suggests that the drug may decrease risk of pneumonia and death in this population. (Source: National Institutes of Health (NIH) News Releases)

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Orphazyme Completes Rolling Submission of New Drug Application To U.S. FDA for Arimoclomol for Niemann-Pick Disease Type C

Drugs.com - New Drug Applications — Wed, 10 Apr 2024 14:53:19 +0100

Copenhagen, Denmark, July 20, 2020– Orphazyme A/S (ORPHA.CO), a late-stage biopharmaceutical company pioneering the Heat-Shock Protein response in order to develop and commercialize novel therapeutics for the treatment of... (Source: Drugs.com - New Drug Applications)

Orphazyme Initiates Rolling Submission of New Drug Application for Arimoclomol with US FDA in Niemann-Pick Disease Type C

Drugs.com - New Drug Applications — Wed, 10 Apr 2024 14:53:19 +0100

Copenhagen, Denmark, May 29, 2020 – Orphazyme A/S (ORPHA.CO), a biopharmaceutical company pioneering the Heat-Shock Protein response for the treatment of neurodegenerative orphan diseases, today announces it has initiated the... (Source: Drugs.com - New Drug Applications)

How Does Gaucher Disease Present?

PediatricEducation.org — Wed, 10 Apr 2024 14:53:19 +0100

Discussion Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish population (~1:850). GD is an autosomal recessive disease whose main enzyme defect is acid β-glucosidase which causes accumulation of glucosylceramide, an indigestibl...

Girl, four, with 'childhood Alzheimer's' defies her death sentence to start pre-school

the Mail online | Health — Wed, 10 Apr 2024 14:53:19 +0100

Marian McGlockin, from California, was diagnosed with deadly Niemann-Pick disease type C (NPC) at just 18 months old. Doctors told her family to prepare for the worst. (Source: the Mail online | Health)

Niemann-Pick Disease

MedicineNet Kids Health General — Wed, 10 Apr 2024 14:53:19 +0100

Title: Niemann-Pick DiseaseCategory: Diseases and ConditionsCreated: 8/23/2018 12:00:00 AMLast Editorial Review: 8/23/2018 12:00:00 AM (Source: MedicineNet Kids Health General)

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Healthy' toddler is battling condition similar to ALZHEIMER'S

the Mail online | Health — Wed, 10 Apr 2024 14:53:19 +0100

Single mother Elaine Fisher, 38, of Dudley, West Midlands, has been left 'mourning' following the heartbreaking diagnosis of her daughter, Holly, with Niemann-Pick Type C. (Source: the Mail online | Health)

'Healthy' toddler, 3, is battling a devastating condition similar to ALZHEIMER'S

the Mail online | Health — Wed, 10 Apr 2024 14:53:19 +0100

The Texas sisters with childhood Alzheimer's

the Mail online | Health — Wed, 10 Apr 2024 14:53:19 +0100

Both Abby, three, and Belle, seven, have Niemann-Pick Type C1, a genetic disease where in time, children slowly regress until they can ’t walk, eat, and dementia will set in before age 10. (Source: the Mail online | Health)

The sisters with childhood Alzheimer's

the Mail online | Health — Wed, 10 Apr 2024 14:53:19 +0100

2-hydroxypropyl- & #946;-cyclodextrins and blood-brain barrier in Niemann-Pick Disease type C1

EurekAlert! - Biology — Wed, 10 Apr 2024 14:53:19 +0100

(Bentham Science Publishers) The rare, chronic, autosomal-recessive lysosomal storage disease Niemann-Pick disease type C1 (NPC1) is characterized by progressively debilitating and ultimately fatal neurological manifestations. There is an urgent need for disease-modifying therapies that address NPC1 neurological pathophysiology; and passage through the blood-brain barrier represents an important consideration for novel NPC1 drugs. (Source: EurekAlert! - Biology)

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Corrigendum to "Niemann-Pick disease type C presenting as a developmental coordination disorder with bullying by peers in a school-age child" - Suzuki R, Tanaka A, Matsui T, Gunji T, Tohyama J, Narita A, Nanba E, Ohno K.

SafetyLit — Wed, 10 Apr 2024 14:53:19 +0100

[This corrects the article DOI: 10.1155/2015/807591.]. Language: en... (Source: SafetyLit)

Experimental treatment helps toddler with rare disease

Health News: CBSNews.com — Wed, 10 Apr 2024 14:53:19 +0100

The 2-year-old is the youngest child in the country receiving this treatment to fight Niemann-Pick disease type C, a rare and deadly disease (Source: Health News: CBSNews.com)

Intrathecal Therapy May Slow Fatal Niemann-Pick Disease Intrathecal Therapy May Slow Fatal Niemann-Pick Disease

Medscape Medical News Headlines — Wed, 10 Apr 2024 14:53:19 +0100

Intrathecal hydroxyproyl-beta-cyclodextrin appears to slow progression of cognitive and speech deficits. Hearing loss was a notable adverse event but was'manageable'in this devastating disease, say investigators.Medscape Medical News (Source: Medscape Medical News Headlines)

Cyclodextrin slows NPC progression in new Washington University trial

Drug Development Technology — Wed, 10 Apr 2024 14:53:19 +0100

A new clinical trial conducted by Washington University School of Medicine in St Louis and the National Institutes of Health (NIH) in the US has shown that a drug called cyclodextrin slows progression of Niemann-Pick type C (NPC) disease. (Source: Drug Development Technology)

New drug for Niemann-Pick disease type C1 appears safe, effective

Health News - UPI.com — Wed, 10 Apr 2024 14:53:19 +0100

Researchers report that an experimental drug appears to be safe and effective at slowing the progression of Niemann-Pick disease type C1. (Source: Health News - UPI.com)

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Experimental treatment for Niemann-Pick disease type C1 appears safe, effective

National Institutes of Health (NIH) News Releases — Wed, 10 Apr 2024 14:53:19 +0100

NIH-led clinical trial suggests that drug slows progression of rare neurological disease. (Source: National Institutes of Health (NIH) News Releases)

Groundbreaking drug could treat childhood Alzheimer's

the Mail online | Health — Wed, 10 Apr 2024 14:53:19 +0100

Results of a small clinical trial in Washington State have shown promise to treat the neurogenerative condition called Niemann-Pick type C (NPC) that typically kills those afflicted before they turn 20. (Source: the Mail online | Health)

CTD Holdings begins dosing in Phase I/II trial of Trappsol Cyclo to treat NPC

Drug Development Technology — Wed, 10 Apr 2024 14:53:19 +0100

CTD Holdings has commenced patient dosing in a Phase I/II clinical trial of its intravenous drug candidate Trappsol Cyclo for the treatment of patients in Europe with Niemann-Pick disease type C (NPC). (Source: Drug Development Technology)

NIH scientists find rare disease clues in cell ’s recycling system

National Institutes of Health (NIH) News Releases — Wed, 10 Apr 2024 14:53:19 +0100

The work could lead to a new generation of potential therapies for Niemann-Pick type C1 and similar disorders. (Source: National Institutes of Health (NIH) News Releases)

NIH scientists find rare disease clues in cell's recycling system

EurekAlert! - Medicine and Health — Wed, 10 Apr 2024 14:53:19 +0100

(NIH/National Center for Advancing Translational Sciences (NCATS)) Scientists have demonstrated how an investigational drug works against a rare, fatal genetic disease, Niemann-Pick type C1 (NPC1). They found that a closely related compound will activate an enzyme, AMPK, triggering a cellular 'recycling' system that helps reduce elevated cholesterol and other accumulated fats in the brains and livers of NPC1 patients, which are hallmarks associated with severe neurological problems. (Source: EurekAlert! - Medicine and Health)

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CTD Holdings starts enrolment in Phase I/II trial of Trappsol Cyclo for NPC

Drug Development Technology — Wed, 10 Apr 2024 14:53:19 +0100

US-based biotechnology firm CTD Holdings has started patient enrolment in the Phase I/II clinical trial of Trappsol Cyclo to treat patients suffering from Niemann-Pick disease type C (NPC) in Europe. (Source: Drug Development Technology)

Boy diagnosed with childhood Alzheimer's on Mother's Day

the Mail online | Health — Wed, 10 Apr 2024 14:53:19 +0100

Boston-born Purnell Sabky, one, was diagnosed with Niemann-Pick disease type A on May 12. The condition is also known as childhood Alzheimer's and there is no cure. (Source: the Mail online | Health)

Sucampo just bought this local rare disease company for $200M

bizjournals.com Health Care:Biotechnology headlines — Wed, 10 Apr 2024 14:53:19 +0100

Rockville global biopharmaceutical company Sucampo Pharmaceuticals Inc. has purchased Gaithersburg-based rare disease company Vtesse Inc. for $200 million, according to an announcement Monday morning. The deal gives Sucampo access to privately held Vtesse’s treatment for the rare Niemann-Pick disease Type C1, which is still in development. The disease is a genetic mutation that causes the loss of a particular enzyme in the body, which is always fatal after early childhood. Vtesse’s fully e nrolled… (Source: bizjournals.com Health Care:Biotechnology headlines)

Sucampo Acquires Vtesse Inc.

HSMN NewsFeed — Wed, 10 Apr 2024 14:53:19 +0100

ROCKVILLE, Md., and GAITHERSBURG, Md., April 03, 2017 -- (Healthcare Sales & Marketing Network) -- Sucampo Pharmaceuticals, Inc. (Sucampo) (SCMP), a global biopharmaceutical company, and Vtesse Inc. (Vtesse), a privately-held rare disease company, today an... Biopharmaceuticals, Mergers & Acquisitions Sucampo Pharmaceuticals, Vtesse, Niemann-Pick Disease, AMITIZA, RESCULA (Source: HSMN NewsFeed)

[Report] Lysosomal cholesterol activates mTORC1 via an SLC38A9 –Niemann-Pick C1 signaling complex

ScienceNOW — Wed, 10 Apr 2024 14:53:19 +0100

The mechanistic target of rapamycin complex 1 (mTORC1) protein kinase is a master growth regulator that becomes activated at the lysosome in response to nutrient cues. Here, we identify cholesterol, an essential building block for cellular growth, as a nutrient input that drives mTORC1 recruitment and activation at the lysosomal surface. The lysosomal transmembrane protein, SLC38A9, is required for mTORC1 activation by cholesterol through conserved cholesterol-responsive motifs. Moreover, SLC38A9 enables mTORC1 activation by cholesterol independently from its arginine-sensing function. Conversely, the Niemann-Pick C1 (NPC1) protein, which regulates cholesterol export from the lysosome, binds to SLC38A9 and inhibits mTORC1 signaling through its sterol transport function. Thus, lysosomal cho...

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Families affected by rare genetic condition that causes Alzheimer's in childhood are given new hope by what could be the first treatment

the Mail online | Health — Wed, 10 Apr 2024 14:53:19 +0100

Niemann-Pick Type C is a progressive and fatal disorder that gradually robs children of the ability to speak and walk, and causes intellectual decline and memory loss. (Source: the Mail online | Health)

Sanofi Genzyme begins enrolment in Phase II/III ASCEND clinical trial of olipudase alfa in UK

Drug Development Technology — Wed, 10 Apr 2024 14:53:19 +0100

Sanofi Genzyme has begun enrolment for its pivotal Phase II/III ASCEND clinical trial of olipudase alfa to treat non-neurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B (NPD B). (Source: Drug Development Technology)

Potential treatment for Niemann-Pick type C disease

ScienceDaily Headlines — Wed, 10 Apr 2024 14:53:19 +0100

Researchers have improved a potential treatment for a rare genetic disease, decreasing its negative toxic effects by threading it onto a dumb-bell-shaped chain and holding it in place until it reaches its target. (Source: ScienceDaily Headlines)

[In Depth] Battle over rare disease drug ensnares NIH

ScienceNOW — Wed, 10 Apr 2024 14:53:19 +0100

A bitter fight involving the National Institutes of Health (NIH), two companies, and opposing camps of researchers and parents is marring the emergence of a promising therapy for children with a rare, inherited, and uniformly fatal disorder of cholesterol metabolism. The 5-year-old National Center for Advancing Translational Sciences (NCATS), part of NIH, shepherded the early development of a cyclodextrin—a doughnut-shaped sugar molecule—as a treatment for Niemann-Pick type C-1 (NPC). Not long ago, NCATS handed the drug off to a small Maryland company, Vtesse, for further human trials and, hopefully, commercialization. But in a recent letter to NIH Director Francis Collins, copied to several members of Congress, CTD Holdings Inc., a disgruntled, competing, Florida-based firm, complain...

TGen teams up with Scottsdale family to take on rare childhood disease

bizjournals.com Health Care:Biotechnology headlines — Wed, 10 Apr 2024 14:53:19 +0100

SCOTTSDALE – Wylder Laffoon was just seven months old when his parents, Steven and Shannon Laffoon, learned their son had a rare, genetic disease that meant he would not live past age 3. Wylder died when he was three years old in July 2012 of Niemann-Pick Type A, but his legacy lives on through the Wylder Nation Foundation. His parents founded the nonprofit to support doctors and researchers who are trying to find a cure for the disease. “The mission is to improve the lives of children diagnosed… (Source: bizjournals.com Health Care:Biotechnology headlines)

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Newborn screening test developed for rare, deadly neurological disorder

ScienceDaily Headlines — Wed, 10 Apr 2024 14:53:19 +0100

Soon after birth, a baby's blood is sampled and tested for a number of rare inherited conditions, such as cystic fibrosis and sickle cell anemia. A new study describes a novel newborn screening test for a progressive neurodegenerative disease, called Niemann-Pick type C (NPC), that typically is not diagnosed until at least age 2, after neurological symptoms have begun to develop. (Source: ScienceDaily Headlines)

New formulation of FDA-approved drug may help treat Niemann-Pick Type C disease

EurekAlert! - Medicine and Health — Wed, 10 Apr 2024 14:53:19 +0100

(University of Notre Dame) Researchers used an existing FDA-approved drug in a novel approach to treatment of Niemann-Pick Type C (NPC) with promising results. (Source: EurekAlert! - Medicine and Health)

Niemann-Pick Disease (Acid Sphingomyelinase Deficiency Type C)...

PRWeb: Medical Pharmaceuticals — Wed, 10 Apr 2024 14:53:19 +0100

RnRMarketResearch.com adds “Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) Type C - Pipeline Review, H1 2015” to its store. The report provides an overview of the Acid Sphingomyelinase...(PRWeb June 24, 2015)Read the full story at http://www.prweb.com/releases/niemann-pick-disease/pipeline-review-h1-2015/prweb12805707.htm (Source: PRWeb: Medical Pharmaceuticals)

Researchers identify new target for Ebola drugs

EurekAlert! - Infectious and Emerging Diseases — Wed, 10 Apr 2024 14:53:19 +0100

(American Society for Microbiology) A new study has demonstrated that a protein called Niemann-Pick C1 (NPC1) is critical for the Ebola virus to infect a host. The study, published in the May/June issue of mBio, the online open-access journal of the American Society for Microbiology, suggests that drugs that block NPC1 could be used to treat this deadly disease. (Source: EurekAlert! - Infectious and Emerging Diseases)

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Meet the 12-year-old girl battling dementia

Telegraph Health — Wed, 10 Apr 2024 14:53:19 +0100

Charlea Armstead's genetic disorder puts Victoria Lambert in mind of a fragile octogenarian. Not so her extraordinary spirit (Source: Telegraph Health)

NIH teams with industry to develop treatments for Niemann-Pick Type C disease

National Institutes of Health (NIH) News Releases — Wed, 10 Apr 2024 14:53:19 +0100

Lysosomal storage diseases comprise about 50 rare inherited disorders that usually affect children. (Source: National Institutes of Health (NIH) News Releases)

Small Biotech Gets Rights to Rare Disease Drug

WSJ.com: Health — Wed, 10 Apr 2024 14:53:19 +0100

The NIH licensed rights to cyclodextrin to Vtesse, a biotechnology company that will take on development of the drug for the treatment of Niemann-Pick Type C disease. (Source: WSJ.com: Health)

Researchers Study Ebola Link to Gene in Rare Disease

WSJ.com: Health — Wed, 10 Apr 2024 14:53:19 +0100

In the search for answers about Ebola, researchers are starting to look at an unexpected group of people: parents with children who have the fatal genetic disease Niemann-Pick Type C. (Source: WSJ.com: Health)

Neurotrope and Mount Sinai collaborate to develop Bryostatin-1 for NPC disease

Pharmaceutical Technology — Wed, 10 Apr 2024 14:53:19 +0100

Neurotrope Bioscience has entered into a collaboration agreement with Icahn School of Medicine at Mount Sinai to develop Bryostatin-1 in the treatment of Niemann-Pick Type C (NPC) disease. (Source: Pharmaceutical Technology)

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Combination therapy a potential strategy for treating Niemann Pick disease

ScienceDaily Headlines — Wed, 10 Apr 2024 14:53:19 +0100

A potential dual-pronged approach to treating Niemann-Pick type C (NPC) disease, a rare but devastating genetic disorder, has been identified by researchers. By studying nerve and liver cells grown from NPC patient-derived induced pluripotent stem cells (iPSCs), the scientists determined that although cholesterol does accumulate abnormally in the cells of NPC patients, a more significant problem may be defective autophagy -— a basic cellular function that degrades and recycles unneeded or faulty molecules, components, or organelles in a cell. (Source: ScienceDaily Headlines)

Niemann-Pick: 'My son looks pregnant': Boy has rare condition that makes organs too big

the Mail online | Health — Wed, 10 Apr 2024 14:53:19 +0100

Aadam Asif, from Birmingham, is one of only 17 people in the UK to suffer from Niemann-Pick, Type B, which is caused by an enlarged liver and spleen. (Source: the Mail online | Health)

La Jolla Pharmaceutical Company Receives Orphan Designation From FDA

HSMN NewsFeed — Wed, 10 Apr 2024 14:53:19 +0100

SAN DIEGO, CA--(Healthcare Sales & Marketing Network) - La Jolla Pharmaceutical Company (OTCBB: LJPC) ("La Jolla" and "Company"), a leader in the development of therapeutics targeting life threating diseases, announced today that the FD... Biopharmaceuticals, Neurology, FDALa Jolla Pharmaceutical, LJPC-0712, Niemann-Pick (Source: HSMN NewsFeed)

Insight Into Niemann-Pick type C, A Debilitating Brain Disease

Health News from Medical News Today — Wed, 10 Apr 2024 14:53:19 +0100

From the neurons that enable thought to the keratinocytes that make toenails grow-a complex canopy of sugar molecules, commonly known as glycans, envelop every living cell in the human body. These complex carbohydrate chains perform a host of vital functions, providing the necessary machinery for cells to communicate, replicate and survive. It stands to reason, then, that when something goes wrong with a person's glycans, something goes wrong with them... (Source: Health News from Medical News Today)

Cholesterol increases risk of Alzheimer's and heart disease

EurekAlert! - Medicine and Health — Wed, 10 Apr 2024 14:53:19 +0100

(University of Colorado Denver) Using insights gained from studying two much rarer disorders, Down Syndrome and Niemann Pick-C disease, researchers at the Linda Crnic Institute for Down Syndrome and the Department of Neurology of the University of Colorado School of Medicine found that cholesterol wreaks havoc on the orderly process of cell division, leading to defective daughter cells throughout the body. (Source: EurekAlert! - Medicine and Health)

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NIH clinical trial begins for treatment of rare, fatal neurological disorder

NHGRI-Related News — Wed, 10 Apr 2024 14:53:19 +0100

A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start today, researchers announced. Scientists from the NIH"s National Center for Advancing Translational Sciences (NCATS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) will conduct the clinical trial at the NIH Clinical Center. Reaching this trial stage required collaboration among government, industry, patient advocacy groups and academic researchers. NHGRI is one of the collaborating institutions on the research. (Source: NHGRI-Related News)

Researchers Identify Protein Essential in Transmission of Ebola Virus

BWH News — Wed, 10 Apr 2024 14:53:19 +0100

Researchers identified a novel small molecule that inhibits EboV entry into cells by more than 99 percent; they found that the target of the inhibitor is the cell protein Niemann-Pick C1 (Source: BWH News)