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Boy diagnosed with childhood Alzheimer's on Mother's Day  
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)
Source: the Mail online | Health - June 1, 2017 Category: Consumer Health News Source Type: news

Sucampo just bought this local rare disease company for $200M
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)
Source: bizjournals.com Health Care:Biotechnology headlines - April 3, 2017 Category: Biotechnology Authors: Andy Medici Source Type: news

Sucampo Acquires Vtesse Inc.
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)
Source: HSMN NewsFeed - April 3, 2017 Category: Pharmaceuticals Source Type: news

[Report] Lysosomal cholesterol activates mTORC1 via an SLC38A9 –Niemann-Pick C1 signaling complex
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...
Source: ScienceNOW - March 23, 2017 Category: Science Authors: Brian M. Castellano Source Type: news

Families affected by rare genetic condition that causes Alzheimer's in childhood are given new hope by what could be the first treatment
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)
Source: the Mail online | Health - December 19, 2016 Category: Consumer Health News Source Type: news

Sanofi Genzyme begins enrolment in Phase II/III ASCEND clinical trial of olipudase alfa in UK
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)
Source: Drug Development Technology - November 7, 2016 Category: Pharmaceuticals Source Type: news

Potential treatment for Niemann-Pick type C disease
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)
Source: ScienceDaily Headlines - November 2, 2016 Category: Science Source Type: news

[In Depth] Battle over rare disease drug ensnares NIH
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, comme...
Source: ScienceNOW - October 6, 2016 Category: Science Authors: Meredith Wadman Tags: Biomedicine Source Type: news

TGen teams up with Scottsdale family to take on rare childhood disease
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)
Source: bizjournals.com Health Care:Biotechnology headlines - July 12, 2016 Category: Biotechnology Authors: Eddie Keller Source Type: news

TGen teams up with Scottsdale family to take on rare childhood disease
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:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - July 12, 2016 Category: Pharmaceuticals Authors: Eddie Keller Source Type: news

Newborn screening test developed for rare, deadly neurological disorder
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)
Source: ScienceDaily Headlines - May 4, 2016 Category: Science Source Type: news

New formulation of FDA-approved drug may help treat Niemann-Pick Type C disease
(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)
Source: EurekAlert! - Medicine and Health - February 25, 2016 Category: Global & Universal Source Type: news

Niemann-Pick Disease (Acid Sphingomyelinase Deficiency Type C)...
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)
Source: PRWeb: Medical Pharmaceuticals - June 26, 2015 Category: Pharmaceuticals Source Type: news

Researchers identify new target for Ebola drugs
(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)
Source: EurekAlert! - Infectious and Emerging Diseases - May 26, 2015 Category: Infectious Diseases Source Type: news

Meet the 12-year-old girl battling dementia
Charlea Armstead's genetic disorder puts Victoria Lambert in mind of a fragile octogenarian. Not so her extraordinary spirit (Source: Telegraph Health)
Source: Telegraph Health - January 17, 2015 Category: Consumer Health News Tags: niemann-pick alzheimers crohns 12-year-old dementia Source Type: news

NIH teams with industry to develop treatments for Niemann-Pick Type C disease
Lysosomal storage diseases comprise about 50 rare inherited disorders that usually affect children. (Source: National Institutes of Health (NIH) News Releases)
Source: National Institutes of Health (NIH) News Releases - January 7, 2015 Category: American Health Source Type: news

Small Biotech Gets Rights to Rare Disease Drug
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)
Source: WSJ.com: Health - January 7, 2015 Category: Pharmaceuticals Tags: PAID Source Type: news

Researchers Study Ebola Link to Gene in Rare Disease
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)
Source: WSJ.com: Health - November 3, 2014 Category: Pharmaceuticals Tags: PAID Source Type: news

Neurotrope and Mount Sinai collaborate to develop Bryostatin-1 for NPC disease
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)
Source: Pharmaceutical Technology - July 23, 2014 Category: Pharmaceuticals Source Type: news

Combination therapy a potential strategy for treating Niemann Pick disease
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)
Source: ScienceDaily Headlines - May 15, 2014 Category: Science Source Type: news

Niemann-Pick: 'My son looks pregnant': Boy has rare condition that makes organs too big
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)
Source: the Mail online | Health - September 23, 2013 Category: Consumer Health News Source Type: news

La Jolla Pharmaceutical Company Receives Orphan Designation From FDA
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)
Source: HSMN NewsFeed - July 17, 2013 Category: Pharmaceuticals Source Type: news

Insight Into Niemann-Pick type C, A Debilitating Brain Disease
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)
Source: Health News from Medical News Today - June 10, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news

Cholesterol increases risk of Alzheimer's and heart disease
(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)
Source: EurekAlert! - Medicine and Health - April 15, 2013 Category: Global & Universal Source Type: news

NIH clinical trial begins for treatment of rare, fatal neurological disorder
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 ...
Source: NHGRI-Related News - January 23, 2013 Category: Genetics & Stem Cells Source Type: news

NIH clinical trial begins for treatment of rare, fatal neurological disorder
(NIH/National Center for Advancing Translational Sciences (NCATS)) 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 r...
Source: EurekAlert! - Medicine and Health - January 23, 2013 Category: Global & Universal Source Type: news