5-year-old boy approved for medication to slow rare disease
Leo Dupont, a five-year-old from Steinbach, #Manitoba was diagnosed in June with Niemann-Pick disease type C, a rare and fatal neurodegenerative disease.
www.cbc.ca/player/play/...
Leo Dupont, a five-year-old from Steinbach, #Manitoba was diagnosed in June with Niemann-Pick disease type C, a rare and fatal neurodegenerative disease.
www.cbc.ca/player/play/...
5-year-old boy approved for medication to slow rare disease
Leo Dupont, a five-year-old from Steinbach, Man., was diagnosed in June with Niemann-Pick disease type C, a rare and fatal neurodegenerative disease. For months, his family has been asking the provinc...
www.cbc.ca
November 6, 2025 at 12:26 PM
5-year-old boy approved for medication to slow rare disease
Leo Dupont, a five-year-old from Steinbach, #Manitoba was diagnosed in June with Niemann-Pick disease type C, a rare and fatal neurodegenerative disease.
www.cbc.ca/player/play/...
Leo Dupont, a five-year-old from Steinbach, #Manitoba was diagnosed in June with Niemann-Pick disease type C, a rare and fatal neurodegenerative disease.
www.cbc.ca/player/play/...
RRIDs were included in this paper. Thanks for making your methods matter! #BetterScience #OpenScience #reproducibility
HKDC1 contributes to aberrant lysosome-mitochondria contact in Niemann-Pick disease type C
Read the full paper: HKDC1 contributes to aberrant lysosome-mitochondria contact in Niemann-Pick disease type C
doi.org
October 10, 2026 at 7:01 AM
RRIDs were included in this paper. Thanks for making your methods matter! #BetterScience #OpenScience #reproducibility
EMA recommends 13 new medicines for approval:
☑️ 1 medicine for #HIV-1 pre-exposure prophylaxis #PrEP to be taken twice a year
☑️ 1 medicine to treat patients with #Niemann-Pick type C
☑️ 1 medicine to be taken orally to treat hereditary angioedema #HAE
www.ema.europa.eu/en/news/meet...
#PublicHealth
☑️ 1 medicine for #HIV-1 pre-exposure prophylaxis #PrEP to be taken twice a year
☑️ 1 medicine to treat patients with #Niemann-Pick type C
☑️ 1 medicine to be taken orally to treat hereditary angioedema #HAE
www.ema.europa.eu/en/news/meet...
#PublicHealth
July 25, 2025 at 10:54 AM
EMA recommends 13 new medicines for approval:
☑️ 1 medicine for #HIV-1 pre-exposure prophylaxis #PrEP to be taken twice a year
☑️ 1 medicine to treat patients with #Niemann-Pick type C
☑️ 1 medicine to be taken orally to treat hereditary angioedema #HAE
www.ema.europa.eu/en/news/meet...
#PublicHealth
☑️ 1 medicine for #HIV-1 pre-exposure prophylaxis #PrEP to be taken twice a year
☑️ 1 medicine to treat patients with #Niemann-Pick type C
☑️ 1 medicine to be taken orally to treat hereditary angioedema #HAE
www.ema.europa.eu/en/news/meet...
#PublicHealth
Electron tomography reveals defects in lyosomes and lysophagy patients with Niemann-Pick syndrome: if we can make this more accessible and high-throughput it will bridge the gap between cell and structural biology and revolutionize our field #cellbio2025 1/n
December 9, 2025 at 3:12 PM
Electron tomography reveals defects in lyosomes and lysophagy patients with Niemann-Pick syndrome: if we can make this more accessible and high-throughput it will bridge the gap between cell and structural biology and revolutionize our field #cellbio2025 1/n
Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease | Science Translational Medicine www.science.org/doi/10.1126/...
December 5, 2024 at 5:40 PM
Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease | Science Translational Medicine www.science.org/doi/10.1126/...
Cherry-red spot = at least 5 diseases: Tay-Sachs, Niemann-Pick, Sandhoff, GM1 gangliosidosis, CRAO (adults).
Trick: + hepatosplenomegaly ≠ Tay-Sachs.
neetpgai.com
Trick: + hepatosplenomegaly ≠ Tay-Sachs.
neetpgai.com
October 10, 2026 at 3:01 PM
Cherry-red spot = at least 5 diseases: Tay-Sachs, Niemann-Pick, Sandhoff, GM1 gangliosidosis, CRAO (adults).
Trick: + hepatosplenomegaly ≠ Tay-Sachs.
neetpgai.com
Trick: + hepatosplenomegaly ≠ Tay-Sachs.
neetpgai.com
🧠 Un trabajo liderado por el @cbm-csic-uam.bsky.social presenta una nueva diana terapéutica para las alteraciones psiquiátricas en la enfermedad de Niemann-Pick tipo C, que causa graves trastornos neurológicos
👉 http://tiny.cc/sydz001
👉 http://tiny.cc/sydz001
February 28, 2026 at 10:01 AM
🧠 Un trabajo liderado por el @cbm-csic-uam.bsky.social presenta una nueva diana terapéutica para las alteraciones psiquiátricas en la enfermedad de Niemann-Pick tipo C, que causa graves trastornos neurológicos
👉 http://tiny.cc/sydz001
👉 http://tiny.cc/sydz001
In April, the chosen charity was Niemann-Pick UK
A charity providing unique care and support services to families and friends affected by Niemann-Pick diseases
Registered Charity Number 1144406 (England & Wales) SCO45407 (Scotland)
Get involved 👇
www.npuk.org
A charity providing unique care and support services to families and friends affected by Niemann-Pick diseases
Registered Charity Number 1144406 (England & Wales) SCO45407 (Scotland)
Get involved 👇
www.npuk.org
Niemann-Pick UK (NPUK) | Making a positive difference to the lives of those affected by Niemann-Pick diseases
www.npuk.org
April 30, 2026 at 11:54 AM
In April, the chosen charity was Niemann-Pick UK
A charity providing unique care and support services to families and friends affected by Niemann-Pick diseases
Registered Charity Number 1144406 (England & Wales) SCO45407 (Scotland)
Get involved 👇
www.npuk.org
A charity providing unique care and support services to families and friends affected by Niemann-Pick diseases
Registered Charity Number 1144406 (England & Wales) SCO45407 (Scotland)
Get involved 👇
www.npuk.org
Happy #PharmPhriday!
FDA just approved the first treatment for Niemann-Pick Disease, Type C, a rare genetic disorder resulting in neurological symptoms and organ dysfunction, due to changes in the NPC1 or NPC2 genes impacting transport of lipids in a cell. Life expectancy is about 13.
🧪 🩺 🟦🧠 🛟
FDA just approved the first treatment for Niemann-Pick Disease, Type C, a rare genetic disorder resulting in neurological symptoms and organ dysfunction, due to changes in the NPC1 or NPC2 genes impacting transport of lipids in a cell. Life expectancy is about 13.
🧪 🩺 🟦🧠 🛟
FDA Approves First Treatment for Niemann-Pick Disease, Type C
The FDA approved Miplyffa (arimoclomol), an oral medication for the treatment of Neimann-Pick disease, type C (NPC).
www.fda.gov
September 20, 2024 at 2:41 PM
Happy #PharmPhriday!
FDA just approved the first treatment for Niemann-Pick Disease, Type C, a rare genetic disorder resulting in neurological symptoms and organ dysfunction, due to changes in the NPC1 or NPC2 genes impacting transport of lipids in a cell. Life expectancy is about 13.
🧪 🩺 🟦🧠 🛟
FDA just approved the first treatment for Niemann-Pick Disease, Type C, a rare genetic disorder resulting in neurological symptoms and organ dysfunction, due to changes in the NPC1 or NPC2 genes impacting transport of lipids in a cell. Life expectancy is about 13.
🧪 🩺 🟦🧠 🛟
Neuro-#inflammation plays a crucial role in Niemann-Pick type C, a #raredisease associated with childhood #dementia. The research points to a biomarker, a molecule called TSPO, that could be useful in disease monitoring and assessing treatment response.
#neuroscience #neurology #pediatrics
#neuroscience #neurology #pediatrics
New Insights into NPC: a Form of Childhood Dementia
Research underscores involvement of the brain’s immune system
www.dzne.de
December 8, 2024 at 12:37 AM
Neuro-#inflammation plays a crucial role in Niemann-Pick type C, a #raredisease associated with childhood #dementia. The research points to a biomarker, a molecule called TSPO, that could be useful in disease monitoring and assessing treatment response.
#neuroscience #neurology #pediatrics
#neuroscience #neurology #pediatrics
Y uno de los aspectos más importantes de las #NetCon2025 es que son jornadas solidarias. Echando una mano, a la fundación Niemann Pick de Fuenlabrada, en su lucha contra esta terrible enfermedad.
Aquí tenéis los pasos gracias a @jornadasnetcon.bsky.social 💪
Aquí tenéis los pasos gracias a @jornadasnetcon.bsky.social 💪
Recordad que por cada 2.5€ de donativo a la fundación Niemann Pick de Fuenlabrada tendréis un boleto para el sorteo.
Hay grandes, grandísimos premios de la mano de nuestras patrocinadoras
netconplay.es/patrocinador...
No olvidéis enviarnos el comprobante a través del formulario para optar al sorteo!
Hay grandes, grandísimos premios de la mano de nuestras patrocinadoras
netconplay.es/patrocinador...
No olvidéis enviarnos el comprobante a través del formulario para optar al sorteo!
April 15, 2025 at 9:59 AM
Y uno de los aspectos más importantes de las #NetCon2025 es que son jornadas solidarias. Echando una mano, a la fundación Niemann Pick de Fuenlabrada, en su lucha contra esta terrible enfermedad.
Aquí tenéis los pasos gracias a @jornadasnetcon.bsky.social 💪
Aquí tenéis los pasos gracias a @jornadasnetcon.bsky.social 💪
4 y, regression of milestones. Cherry-red spot 🔴 + hepatosplenomegaly.
A) Tay-Sachs B) Niemann-Pick C) Gaucher D) Krabbe
Reply with your letter, answer tonight.
A) Tay-Sachs B) Niemann-Pick C) Gaucher D) Krabbe
Reply with your letter, answer tonight.
October 8, 2026 at 8:01 AM
4 y, regression of milestones. Cherry-red spot 🔴 + hepatosplenomegaly.
A) Tay-Sachs B) Niemann-Pick C) Gaucher D) Krabbe
Reply with your letter, answer tonight.
A) Tay-Sachs B) Niemann-Pick C) Gaucher D) Krabbe
Reply with your letter, answer tonight.
Las recaudaciones de este año irán a la Fundación Niemann Pick España, que se dedica a investigar, a asesorar y apoyar a las familias afectadas y a divulgar sobre esta enfermedad y su posible prevención.
Para más información sobre esta enfermedad y la labor de esta gente bonita: www.fnp.es
Para más información sobre esta enfermedad y la labor de esta gente bonita: www.fnp.es
Niemann-Pick España
www.fnp.es
March 5, 2025 at 10:05 AM
Las recaudaciones de este año irán a la Fundación Niemann Pick España, que se dedica a investigar, a asesorar y apoyar a las familias afectadas y a divulgar sobre esta enfermedad y su posible prevención.
Para más información sobre esta enfermedad y la labor de esta gente bonita: www.fnp.es
Para más información sobre esta enfermedad y la labor de esta gente bonita: www.fnp.es
If you like crystallography💎 (who doesn't) and the bitter-sweet pain of hard-to-work-with-ligands😭, then check out our latest publication,👇
“Structural and biochemical analysis of ligand binding in yeast Niemann–Pick type C1–related protein”
1/
“Structural and biochemical analysis of ligand binding in yeast Niemann–Pick type C1–related protein”
1/
November 19, 2024 at 2:03 PM
If you like crystallography💎 (who doesn't) and the bitter-sweet pain of hard-to-work-with-ligands😭, then check out our latest publication,👇
“Structural and biochemical analysis of ligand binding in yeast Niemann–Pick type C1–related protein”
1/
“Structural and biochemical analysis of ligand binding in yeast Niemann–Pick type C1–related protein”
1/
Y, por supuesto, no dudéis también en donar en las #Netcon2025 a su iniciativa solidaria contra la enfermedad de Niemann Pick.
Cualquier ayuda es poca y haréis feliz a mucha gente.
#lodelrol
Cualquier ayuda es poca y haréis feliz a mucha gente.
#lodelrol
April 19, 2025 at 2:20 PM
Y, por supuesto, no dudéis también en donar en las #Netcon2025 a su iniciativa solidaria contra la enfermedad de Niemann Pick.
Cualquier ayuda es poca y haréis feliz a mucha gente.
#lodelrol
Cualquier ayuda es poca y haréis feliz a mucha gente.
#lodelrol
Lysosomal dysfunction drives cellular decline both in rare diseases and in the normal aging process.
Could a single intervention help both? 🧪💊🧪
A quick breakdown of a new therapy candidate in this thread.
#Longevity #Aging #Healthspan
elifesciences.org/articles/103...
Could a single intervention help both? 🧪💊🧪
A quick breakdown of a new therapy candidate in this thread.
#Longevity #Aging #Healthspan
elifesciences.org/articles/103...
Small-molecule activation of TFEB alleviates Niemann–Pick disease type C via promoting lysosomal exocytosis and biogenesis
Small-molecule agonists of transcription factor EB alleviate Niemann–Pick disease type C via promoting lysosomal function.
elifesciences.org
April 29, 2025 at 1:49 PM
Lysosomal dysfunction drives cellular decline both in rare diseases and in the normal aging process.
Could a single intervention help both? 🧪💊🧪
A quick breakdown of a new therapy candidate in this thread.
#Longevity #Aging #Healthspan
elifesciences.org/articles/103...
Could a single intervention help both? 🧪💊🧪
A quick breakdown of a new therapy candidate in this thread.
#Longevity #Aging #Healthspan
elifesciences.org/articles/103...
Many clinicians do not realize that ezetimibe blocks the Niemann Pick C1 Like 1 (NPC1L1) sterol influx transporter at two interfaces to block cholesterol from (1) the enterocyte/intestinal lumen border and also (2) the hepatobiliary border which prevents back-flux of cholesterol from bile to liver
April 25, 2025 at 11:20 PM
Many clinicians do not realize that ezetimibe blocks the Niemann Pick C1 Like 1 (NPC1L1) sterol influx transporter at two interfaces to block cholesterol from (1) the enterocyte/intestinal lumen border and also (2) the hepatobiliary border which prevents back-flux of cholesterol from bile to liver
Shionogi is buying IntraBio for $2B upfront, adding the approved rare disease drug Aqneursa to its growing portfolio.
Shionogi to pay $2B for IntraBio, a commercial rare disease biotech
The drugmaker is scooping up Aqneursa, the oral treatment for Niemann-Pick disease type C that also got a label expansion in ataxia-telangiectasia.
endpoints.news
October 5, 2026 at 7:04 PM
Shionogi is buying IntraBio for $2B upfront, adding the approved rare disease drug Aqneursa to its growing portfolio.
¡Ya está disponible «¡El ataque goblin!» que dirigí durante las jornadas @jornadasnetcon.bsky.social!
Disfrutad de la partida y echadle un vistazo a la descripción para saber cómo apoyar a la Asociación Niemann Pick de Fuenlabrada 😁
www.youtube.com/watch?v=jPIP...
#juegosderol
Disfrutad de la partida y echadle un vistazo a la descripción para saber cómo apoyar a la Asociación Niemann Pick de Fuenlabrada 😁
www.youtube.com/watch?v=jPIP...
#juegosderol
¡El ataque goblin! - Grimwild | NetCon25
YouTube video by Regik & Rol
www.youtube.com
April 17, 2025 at 1:14 PM
¡Ya está disponible «¡El ataque goblin!» que dirigí durante las jornadas @jornadasnetcon.bsky.social!
Disfrutad de la partida y echadle un vistazo a la descripción para saber cómo apoyar a la Asociación Niemann Pick de Fuenlabrada 😁
www.youtube.com/watch?v=jPIP...
#juegosderol
Disfrutad de la partida y echadle un vistazo a la descripción para saber cómo apoyar a la Asociación Niemann Pick de Fuenlabrada 😁
www.youtube.com/watch?v=jPIP...
#juegosderol
Nature research paper: PLA2G15 is a BMP hydrolase and its targeting ameliorates lysosomal disease
https://go.nature.com/3GJD2LL
https://go.nature.com/3GJD2LL
PLA2G15 is a BMP hydrolase and its targeting ameliorates lysosomal disease - Nature
Lysosomal phospholipase PLA2G15 was identified as a physiological BMP hydrolase whose activity depends on unique esterification and stereochemistry of BMP and offers a potential therapeutic target for Niemann–Pick disease type C1 and other neurodegenerative conditions.
go.nature.com
May 12, 2025 at 12:20 PM
Nature research paper: PLA2G15 is a BMP hydrolase and its targeting ameliorates lysosomal disease
https://go.nature.com/3GJD2LL
https://go.nature.com/3GJD2LL
Podéis optar a todos estos premios haciendo un donativo a la Asociación Niemann Pick de Fuenlabrada.
Por cada 2.5€ que donéis, recibiréis un boleto para el sorteo del día 20 de abril, siempre y cuando nos enviéis el comprobante del sorteo a través de nuestro formulario
netconplay.es/causa-de-est...
Por cada 2.5€ que donéis, recibiréis un boleto para el sorteo del día 20 de abril, siempre y cuando nos enviéis el comprobante del sorteo a través de nuestro formulario
netconplay.es/causa-de-est...
April 14, 2025 at 7:54 AM
Podéis optar a todos estos premios haciendo un donativo a la Asociación Niemann Pick de Fuenlabrada.
Por cada 2.5€ que donéis, recibiréis un boleto para el sorteo del día 20 de abril, siempre y cuando nos enviéis el comprobante del sorteo a través de nuestro formulario
netconplay.es/causa-de-est...
Por cada 2.5€ que donéis, recibiréis un boleto para el sorteo del día 20 de abril, siempre y cuando nos enviéis el comprobante del sorteo a través de nuestro formulario
netconplay.es/causa-de-est...
Neurodegeneration in the olfactory system in Niemann Pick type C1 disease https://www.biorxiv.org/content/10.1101/2025.11.22.689959v1
November 26, 2025 at 12:15 AM
Neurodegeneration in the olfactory system in Niemann Pick type C1 disease https://www.biorxiv.org/content/10.1101/2025.11.22.689959v1
The enzyme PLA2G15 breaks down BMP, and inhibiting PLA2G15 extends lifespan in a mouse model of Niemann–Pick type C1, a neurodegenerative disorder marked by impaired lysosomal lipid metabolism
www.nature.com/articles/s41...
www.nature.com/articles/d41...
@nature.com
www.nature.com/articles/s41...
www.nature.com/articles/d41...
@nature.com
May 8, 2025 at 7:18 PM
The enzyme PLA2G15 breaks down BMP, and inhibiting PLA2G15 extends lifespan in a mouse model of Niemann–Pick type C1, a neurodegenerative disorder marked by impaired lysosomal lipid metabolism
www.nature.com/articles/s41...
www.nature.com/articles/d41...
@nature.com
www.nature.com/articles/s41...
www.nature.com/articles/d41...
@nature.com
I don't personally have experience with neuromotor degeneration but my son had Niemann-Pick Type A. He definitely had better and worse days.
Posting about it doesn't have to be constructive - its your feelings, it doesn't have to be anything more than that.
Posting about it doesn't have to be constructive - its your feelings, it doesn't have to be anything more than that.
June 8, 2025 at 2:37 AM
I don't personally have experience with neuromotor degeneration but my son had Niemann-Pick Type A. He definitely had better and worse days.
Posting about it doesn't have to be constructive - its your feelings, it doesn't have to be anything more than that.
Posting about it doesn't have to be constructive - its your feelings, it doesn't have to be anything more than that.