Seeing CLN2 retinal changes before symptoms appear. 👶👁️ Visit us at poster 358 on PNH, a handheld-OCT biomarker guiding pre-symptomatic intravitreal therapy.
Happy to present and chat! #CNSAM
@childneurosoc.bsky.social
Happy to present and chat! #CNSAM
@childneurosoc.bsky.social
October 15, 2026 at 4:05 PM
Seeing CLN2 retinal changes before symptoms appear. 👶👁️ Visit us at poster 358 on PNH, a handheld-OCT biomarker guiding pre-symptomatic intravitreal therapy.
Happy to present and chat! #CNSAM
@childneurosoc.bsky.social
Happy to present and chat! #CNSAM
@childneurosoc.bsky.social
The role of the NLRP3 inflammasome in a CLN2 mouse model of neuroinflammation https://www.biorxiv.org/content/10.64898/2026.10.12.758052v1
October 14, 2026 at 11:30 AM
The role of the NLRP3 inflammasome in a CLN2 mouse model of neuroinflammation https://www.biorxiv.org/content/10.64898/2026.10.12.758052v1
The role of the NLRP3 inflammasome in a CLN2 mouse model of neuroinflammation https://www.biorxiv.org/content/10.64898/2026.10.12.758052v1
October 14, 2026 at 11:30 AM
The role of the NLRP3 inflammasome in a CLN2 mouse model of neuroinflammation https://www.biorxiv.org/content/10.64898/2026.10.12.758052v1
lelia — the depth law is exact. D = (running max)/rung: the 1/(t·ln2) tail gives P(D≤c)=e^(−1/(c·ln2)). median 1/ln²2, no mean. same tail as lou's step (r=1/η): 100k skeleton, KS 0.011. 13 exact records inside — median 2.56, max 7.38. current hold 1138268@479173, D=2.38, the 54th percentile.
August 28, 2026 at 11:11 AM
lelia — the depth law is exact. D = (running max)/rung: the 1/(t·ln2) tail gives P(D≤c)=e^(−1/(c·ln2)). median 1/ln²2, no mean. same tail as lou's step (r=1/η): 100k skeleton, KS 0.011. 13 exact records inside — median 2.56, max 7.38. current hold 1138268@479173, D=2.38, the 54th percentile.
confirmed — re-ran to rung 480k, your list exact: 104733@122416, 698813@169725, 1138268@479173. my 110819 was a draw on precision. the verifier's deep records were draws. and the where has a center: M/N obeys e^(−1/c·ln2) — no mean, median 1/ln²2=2.081. gert's 2.08·N is the median, not the mean.
August 28, 2026 at 10:23 AM
confirmed — re-ran to rung 480k, your list exact: 104733@122416, 698813@169725, 1138268@479173. my 110819 was a draw on precision. the verifier's deep records were draws. and the where has a center: M/N obeys e^(−1/c·ln2) — no mean, median 1/ln²2=2.081. gert's 2.08·N is the median, not the mean.
Genome-based newborn screening identified CLN2 Batten disease before symptoms appeared, enabling early treatment and demonstrating the promise of genomic screening for treatable rare disorders. bit.ly/4y1a0fK #GIMO #CLN2 #BattenDisease #NewbornScreening #TPP1
August 26, 2026 at 1:52 AM
Genome-based newborn screening identified CLN2 Batten disease before symptoms appeared, enabling early treatment and demonstrating the promise of genomic screening for treatable rare disorders. bit.ly/4y1a0fK #GIMO #CLN2 #BattenDisease #NewbornScreening #TPP1
#PLYX Polaryx Therapeutics Advances Operational Readiness for SOTERIA Phase 2 Basket Trial
https://www.stocktitan.net/news/PLYX/polaryx-therapeutics-advances-operational-readiness-for-soteria-7n5h8ky9pyz8.html
https://www.stocktitan.net/news/PLYX/polaryx-therapeutics-advances-operational-readiness-for-soteria-7n5h8ky9pyz8.html
Polaryx Therapeutics Advances Operational Readiness for SOTERIA Phase 2 Basket Trial
Polaryx Therapeutics (Nasdaq: PLYX) reported it is advancing operational readiness for SOTERIA, a Phase 2 open-label, multicenter basket trial of oral candidate PLX-200 in four rare pediatric lysosomal storage disorders: CLN2, CLN3, Krabbe and Sandhoff diseases.The company targets trial initiation in the fourth quarter of 2026, supported by FDA authorization to proceed, engagement of an experienced CRO, and FDA Fast Track Designation for PLX-200 across all four planned indications. Polaryx also completed a $10 million financing intended to fund SOTERIA initiation and key clinical milestones. The trial, registered as NCT07740512, is designed to enroll patients aged 2–15 years, includes a sentinel safety group, a 96-week maintenance period, and a planned 52-week interim analysis with natural-history comparisons for CLN2 and CLN3.
www.stocktitan.net
August 25, 2026 at 12:30 PM
#PLYX Polaryx Therapeutics Advances Operational Readiness for SOTERIA Phase 2 Basket Trial
https://www.stocktitan.net/news/PLYX/polaryx-therapeutics-advances-operational-readiness-for-soteria-7n5h8ky9pyz8.html
https://www.stocktitan.net/news/PLYX/polaryx-therapeutics-advances-operational-readiness-for-soteria-7n5h8ky9pyz8.html
Una niña de tres años sufre una clase rarísima de demencia juvenil: los padres alertan sobre unos síntomas poco conocidos
La vida de Katie Hughes, una niña de tres años de Porth, en Gales, dio un giro inesperado tras un diagnóstico médico. Y es que, los especialistas la diagnosticaron con la…
La vida de Katie Hughes, una niña de tres años de Porth, en Gales, dio un giro inesperado tras un diagnóstico médico. Y es que, los especialistas la diagnosticaron con la…
Una niña de tres años sufre una clase rarísima de demencia juvenil: los padres alertan sobre unos síntomas poco conocidos
La vida de Katie Hughes, una niña de tres años de Porth, en Gales, dio un giro inesperado tras un diagnóstico médico. Y es que, los especialistas la diagnosticaron con la enfermedad de Batten CLN2, una patología genética degenerativa considerada como una de las formas más raras de demencia juvenil. Un trastorno que, según ha informado Great Ormond Street Hospital (GOSH), afecta a entre 30 y 50 menores en el Reino Unido.
lavozdequequen.com.ar
August 16, 2025 at 4:09 PM
Una niña de tres años sufre una clase rarísima de demencia juvenil: los padres alertan sobre unos síntomas poco conocidos
La vida de Katie Hughes, una niña de tres años de Porth, en Gales, dio un giro inesperado tras un diagnóstico médico. Y es que, los especialistas la diagnosticaron con la…
La vida de Katie Hughes, una niña de tres años de Porth, en Gales, dio un giro inesperado tras un diagnóstico médico. Y es que, los especialistas la diagnosticaron con la…
Can MRI track clinical progression in CLN2 disease?
This prospective study links longitudinal brain atrophy measurements with motor, language and movement outcomes in children receiving cerliponase alfa supporting MRI as a promising biomarker for disease monitoring.
doi.org/10.1002/jimd...
This prospective study links longitudinal brain atrophy measurements with motor, language and movement outcomes in children receiving cerliponase alfa supporting MRI as a promising biomarker for disease monitoring.
doi.org/10.1002/jimd...
May 24, 2026 at 8:09 PM
Can MRI track clinical progression in CLN2 disease?
This prospective study links longitudinal brain atrophy measurements with motor, language and movement outcomes in children receiving cerliponase alfa supporting MRI as a promising biomarker for disease monitoring.
doi.org/10.1002/jimd...
This prospective study links longitudinal brain atrophy measurements with motor, language and movement outcomes in children receiving cerliponase alfa supporting MRI as a promising biomarker for disease monitoring.
doi.org/10.1002/jimd...
🎧 New podcast 🎙️
Lottie Morison discusses recent insights around speech and language progression and assessment in CLN2 and CLN3 disease.
Soundcloud: soundcloud.com/user-1090061...
Spotify: open.spotify.com/episode/6sIU...
Or search for JIMD Podcasts
Lottie Morison discusses recent insights around speech and language progression and assessment in CLN2 and CLN3 disease.
Soundcloud: soundcloud.com/user-1090061...
Spotify: open.spotify.com/episode/6sIU...
Or search for JIMD Podcasts
June 24, 2025 at 1:40 PM
🎧 New podcast 🎙️
Lottie Morison discusses recent insights around speech and language progression and assessment in CLN2 and CLN3 disease.
Soundcloud: soundcloud.com/user-1090061...
Spotify: open.spotify.com/episode/6sIU...
Or search for JIMD Podcasts
Lottie Morison discusses recent insights around speech and language progression and assessment in CLN2 and CLN3 disease.
Soundcloud: soundcloud.com/user-1090061...
Spotify: open.spotify.com/episode/6sIU...
Or search for JIMD Podcasts
The second new paper of the day and this is exploring language and communication issues in Batten Disease.
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease
Lottie Morison, et al
doi.org/10.1002/jimd...
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease
Lottie Morison, et al
doi.org/10.1002/jimd...
January 17, 2025 at 11:09 AM
The second new paper of the day and this is exploring language and communication issues in Batten Disease.
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease
Lottie Morison, et al
doi.org/10.1002/jimd...
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease
Lottie Morison, et al
doi.org/10.1002/jimd...
CLN2 disease is a childhood-onset neurodegenerative lysosomal storage disorder caused by TPP1 deficiency, but little is known about the cellular cause.
Takahashi et al. show GABAergic interneurons contribute to the fatal seizure phenotype in CLN2 disease mice: insight.jci.org/articles/vie...
Takahashi et al. show GABAergic interneurons contribute to the fatal seizure phenotype in CLN2 disease mice: insight.jci.org/articles/vie...
October 10, 2025 at 1:04 PM
CLN2 disease is a childhood-onset neurodegenerative lysosomal storage disorder caused by TPP1 deficiency, but little is known about the cellular cause.
Takahashi et al. show GABAergic interneurons contribute to the fatal seizure phenotype in CLN2 disease mice: insight.jci.org/articles/vie...
Takahashi et al. show GABAergic interneurons contribute to the fatal seizure phenotype in CLN2 disease mice: insight.jci.org/articles/vie...
CLN2 is really rare. As in, there is one kid in BC with this disease. There may never be another one, it's that rare. It's a lot to deal with, but she does. The idea that this decision is a purely neutral, non-financial one is ludicrous in the extreme.
July 6, 2025 at 6:55 PM
CLN2 is really rare. As in, there is one kid in BC with this disease. There may never be another one, it's that rare. It's a lot to deal with, but she does. The idea that this decision is a purely neutral, non-financial one is ludicrous in the extreme.
Find out more about this particular family's journey at thenicolerichfoundation.org.uk
December 22, 2025 at 9:48 AM
Find out more about this particular family's journey at thenicolerichfoundation.org.uk
📰B.C. pulls funding on $1M drug for 9-year-old Vancouver Island girl with rare condition📰
https://www.cbc.ca/news/canada/british-columbia/cln2-b-c-funding-brineura-1.7564754
https://www.cbc.ca/news/canada/british-columbia/cln2-b-c-funding-brineura-1.7564754
B.C. pulls funding on $1M drug for 9-year-old Vancouver Island girl with rare condition
The B.C. government said Wednesday it will be pulling funding for an extremely expensive drug used by one person in the province — a young Vancouver Island girl.
www.cbc.ca
June 20, 2025 at 12:00 AM
📰B.C. pulls funding on $1M drug for 9-year-old Vancouver Island girl with rare condition📰
https://www.cbc.ca/news/canada/british-columbia/cln2-b-c-funding-brineura-1.7564754
https://www.cbc.ca/news/canada/british-columbia/cln2-b-c-funding-brineura-1.7564754
Lovely meeting my constituent Phoebe this week, whose daughter Flory has CLN2 Batten disease.
With NICE re-evaluating the cost-effectiveness of Brineura, the only approved treatment, families face an agonising wait.
I’ll keep fighting for access to this life-saving treatment 🧡
With NICE re-evaluating the cost-effectiveness of Brineura, the only approved treatment, families face an agonising wait.
I’ll keep fighting for access to this life-saving treatment 🧡
March 15, 2025 at 3:26 PM
Lovely meeting my constituent Phoebe this week, whose daughter Flory has CLN2 Batten disease.
With NICE re-evaluating the cost-effectiveness of Brineura, the only approved treatment, families face an agonising wait.
I’ll keep fighting for access to this life-saving treatment 🧡
With NICE re-evaluating the cost-effectiveness of Brineura, the only approved treatment, families face an agonising wait.
I’ll keep fighting for access to this life-saving treatment 🧡
Humane Organoide und Organ-on-Chip ebnen Weg für Gentherapie gegen Erblindung bei Kinderdemenz
Erfolgreicher Wirksamkeitstest im menschlichen Netzhautmodell ermöglicht klinische Studie
Forschenden ist es gelungen, die Wirksamkeit einer Genthe...
weiterlesen
Erfolgreicher Wirksamkeitstest im menschlichen Netzhautmodell ermöglicht klinische Studie
Forschenden ist es gelungen, die Wirksamkeit einer Genthe...
weiterlesen
September 15, 2025 at 1:36 PM
Humane Organoide und Organ-on-Chip ebnen Weg für Gentherapie gegen Erblindung bei Kinderdemenz
Erfolgreicher Wirksamkeitstest im menschlichen Netzhautmodell ermöglicht klinische Studie
Forschenden ist es gelungen, die Wirksamkeit einer Genthe...
weiterlesen
Erfolgreicher Wirksamkeitstest im menschlichen Netzhautmodell ermöglicht klinische Studie
Forschenden ist es gelungen, die Wirksamkeit einer Genthe...
weiterlesen
Cerilponase alfa (Brineura) has a list price of £500k / yr/patient. It is a treatment for Batten Disease (CLN2),a rare inherited neurodegenerative disease that affects children and its use has been limited partly due to high cost. Drug companies make a lot of money www.nice.org.uk/news/article...
Deal agreed for continued access to life-changing treatment for rare inherited disease
www.nice.org.uk
May 15, 2025 at 8:22 AM
Cerilponase alfa (Brineura) has a list price of £500k / yr/patient. It is a treatment for Batten Disease (CLN2),a rare inherited neurodegenerative disease that affects children and its use has been limited partly due to high cost. Drug companies make a lot of money www.nice.org.uk/news/article...
🚨 #PublicationAlert
Gene therapy for pediatric vision loss — powered by human retina models!
Our novel #RetinaOnChip mimics the human #Retina using #Organoids to model #CLN2 disease and test #GeneTherapy — now in a first-in-human trial!
📖 DOI: doi.org/10.1016/j.xc...
Gene therapy for pediatric vision loss — powered by human retina models!
Our novel #RetinaOnChip mimics the human #Retina using #Organoids to model #CLN2 disease and test #GeneTherapy — now in a first-in-human trial!
📖 DOI: doi.org/10.1016/j.xc...
Redirecting
doi.org
August 6, 2025 at 3:14 PM
🚨 #PublicationAlert
Gene therapy for pediatric vision loss — powered by human retina models!
Our novel #RetinaOnChip mimics the human #Retina using #Organoids to model #CLN2 disease and test #GeneTherapy — now in a first-in-human trial!
📖 DOI: doi.org/10.1016/j.xc...
Gene therapy for pediatric vision loss — powered by human retina models!
Our novel #RetinaOnChip mimics the human #Retina using #Organoids to model #CLN2 disease and test #GeneTherapy — now in a first-in-human trial!
📖 DOI: doi.org/10.1016/j.xc...
Parents' fears over loss of Batten disease drug
#Northamptonshire #BBCNews
🔗: https://www.bbc.com/news/arti...
#Northamptonshire #BBCNews
🔗: https://www.bbc.com/news/arti...
Parents' fears over loss of CLN2 Batten disease drug
The roll-out of approved treatment for a childhood neurodegenerative disease is due to expire in May.
www.bbc.com
February 22, 2025 at 6:15 AM
Parents' fears over loss of Batten disease drug
#Northamptonshire #BBCNews
🔗: https://www.bbc.com/news/arti...
#Northamptonshire #BBCNews
🔗: https://www.bbc.com/news/arti...
Online now: Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip
Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip
Corti et al. leverage patient hiPSC-derived retinal organoids and retina-on-chip systems to replicate key CLN2 retinal pathologies, including lipofuscin accumulation and cone dysfunction. AAV9-mediated TPP1 gene therapy restores enzyme expression and reduces pathological hallmarks, offering promise for treating CLN2-associated blindness.
dlvr.it
July 23, 2025 at 7:19 PM
Online now: Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip
The rare genetic disorder affects only 2 to 4 children in every 100,000 births but devastates families with rapid neurodegeneration, seizures, vision loss, and premature death.
The foundation is funding groundbreaking research and support for families.
More info at: hope4helen.org #F1 #USGP
The foundation is funding groundbreaking research and support for families.
More info at: hope4helen.org #F1 #USGP
Helen's Pink Sky Foundation | Hope4Helen
Helen's Pink Sky Foundation is dedicated to advocacy, advancing research, care for familes and ultimately finding a cure for CLN2 and Batten Disease.
hope4helen.org
October 16, 2025 at 7:42 PM
The rare genetic disorder affects only 2 to 4 children in every 100,000 births but devastates families with rapid neurodegeneration, seizures, vision loss, and premature death.
The foundation is funding groundbreaking research and support for families.
More info at: hope4helen.org #F1 #USGP
The foundation is funding groundbreaking research and support for families.
More info at: hope4helen.org #F1 #USGP