Molecular genetics and metabolism最新文献

{"title":"Arimoclomol safety profile in the treatment of Niemann-Pick disease type C in a real-world setting: Long-term safety data from an expanded access program in the United States","authors":"Can Ficicioglu , Elizabeth Berry-Kravis , Walla Al-Hertani , Raymond Y. Wang , Marc Patterson , Loren Pena , Kristina Julich , Damara Ortiz , Paula Schleifer , Paul Hillman , Caroline A. Hastings , Blair Orr , Ronan J. O'Reilly , Daniel Gallo","doi":"10.1016/j.ymgme.2024.108721","DOIUrl":"10.1016/j.ymgme.2024.108721","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108721"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FollowME Fabry Pathfinders registry: Patient-reported outcomes in a cohort of patients on migalastat treatment for median 4 years","authors":"Ulla Feldt-Rasmussen , Gere Sunder-Plassmann , Aneal Khan , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Jasmine Rutecki , Aleš Linhart","doi":"10.1016/j.ymgme.2024.108718","DOIUrl":"10.1016/j.ymgme.2024.108718","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108718"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment satisfaction in patients with Fabry disease: Patient-reported outcomes from the followME Fabry Pathfinders registry and the SATIS-Fab study","authors":"Ulla Feldt-Rasmussen , Aleš Linhart , Biliana O. Veleva-Rotse , Joseph D. Giuliano , Hai Jiang , Vipul Jain , Caroline Martinez , Olivier Lidove","doi":"10.1016/j.ymgme.2024.108717","DOIUrl":"10.1016/j.ymgme.2024.108717","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108717"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring global access challenges for Niemann-Pick disease therapies: Insights from an INDPA survey","authors":"Sandra Cowie , Toni Mathieson","doi":"10.1016/j.ymgme.2024.108689","DOIUrl":"10.1016/j.ymgme.2024.108689","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108689"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age-related inflammatory markers and early-onset osteoporosis in women with Gaucher disease","authors":"Julia Dao, Fang Huang, Ozlem Goker-Alpan, Margarita Ivanova","doi":"10.1016/j.ymgme.2024.108695","DOIUrl":"10.1016/j.ymgme.2024.108695","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108695"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What is in store for Pompe disease therapy?","authors":"Hung Do, Kylie Gray, Naresh Kumar Meena, Michael DiGruccio, Emilee Statzer, Jonathan Roberts, Riley Marcinczyk, Linda Lyons, Nina Raben, Russell Gotschall","doi":"10.1016/j.ymgme.2024.108704","DOIUrl":"10.1016/j.ymgme.2024.108704","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108704"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143174256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy","authors":"Francesco Gavazzi ,&nbsp;Brittany Charsar ,&nbsp;Eline Hamilton ,&nbsp;Jacqueline A. Erler ,&nbsp;Virali Patel ,&nbsp;Sarah Woidill ,&nbsp;Anjana Sevagamoorthy ,&nbsp;Guy Helman ,&nbsp;Johanna Schmidt ,&nbsp;Amy Pizzino ,&nbsp;Kayla Muirhead ,&nbsp;Asako Takanohashi ,&nbsp;Joshua L. Bonkowsky ,&nbsp;Kelsee Meyerhoffer ,&nbsp;Cas Simons ,&nbsp;Hiroshi Doi ,&nbsp;Miyatake Satoko ,&nbsp;Naomichi Matsumoto ,&nbsp;Mauricio R. Delgado ,&nbsp;Meredith Sanchez-Castillo ,&nbsp;Adeline L. Vanderver","doi":"10.1016/j.ymgme.2025.109048","DOIUrl":"10.1016/j.ymgme.2025.109048","url":null,"abstract":"<div><div>We establish the natural history of pediatric-onset <em>TUBB4A</em>-related leukodystrophy to improve clinical trial readiness through a medical record-based longitudinal study.</div><div>An international cohort of 216 individuals with pediatric-onset <em>TUBB4A</em>-related leukodystrophy was included. Demographic information and medical events were extracted from medical records or publications. Retrospective scores (Gross Motor Function – Metachromatic Leukodystrophy [GMFC-MLD] and Communication Function Classification System [CFCS]) were applied to assess function. Survival analysis distinguished differences in longitudinal neurocognitive function and time to event outcomes between subtypes. A decision tree predicted independent ambulation from early motor milestones.</div><div>Genotype (p.Asp249Asn vs non-p.Asp249Asn) and independent sitting by age 9 months predicted ambulation by 3 years, and stratification into three subgroups: early-infantile (non- sitting by 9 months), late-infantile (normal early milestones without the common p.Asp249Asn mutation), and a cohort of p.Asp249Asn late-infantile onset individuals. Median age at symptom onset was 0.71 years (interquartile range: [0.33, 1.50]). Common symptoms at onset include delayed development and tone abnormalities (<em>n</em> = 125, 66.5 % and <em>n</em> = 77, 43.0 %). The most common medical complications included scoliosis (<em>N</em> = 51/142), hip dislocation (<em>N</em> = 30/101), and seizures (N = 51/163). The early-infantile more severely affected cohort had a greater prevalence of G-tube placement, scoliosis, and seizure compared to the late-infantile form (<em>p</em> &lt; 0.01). Peak motor and communication abilities were comparable between the p.Asp249Asn and the late infantile cohorts. Despite the acquisition of early milestones, individuals with p.Asp249Asn showed a more rapid decline of functional abilities compared to other late infantile forms (log-rank <em>p</em> = 0.0002).</div><div>Better understanding of <em>TUBB4A</em>-related leukodystrophy subtypes will improve clinical care, allow targeted preventive interventions, and permit disease stratification for future disease-modifying clinical trials.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 3","pages":"Article 109048"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143402536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hematopoietic stem cell gene therapy for mucopolysaccharidosis type I—Hurler syndrome (OTL-203): Interim skeletal, neurological and systemic outcomes from a phase I/II study","authors":"Maria Ester M. Bernardo ,&nbsp;Francesca Tucci ,&nbsp;Giulia Consiglieri ,&nbsp;Maria Luz Uria Oficialdegui ,&nbsp;Francesca Fumagalli ,&nbsp;Maurizio De Pellegrin ,&nbsp;Matilde Cossutta ,&nbsp;Chiara Filisetti ,&nbsp;Maria Pia Manitto ,&nbsp;Carla Butera ,&nbsp;Giulia Dané ,&nbsp;Chiara Camesasca ,&nbsp;Rossella Parini ,&nbsp;Mireia Del Toro Riera ,&nbsp;Cristina Diaz de Heredia ,&nbsp;Alessandro Aiuti","doi":"10.1016/j.ymgme.2024.108655","DOIUrl":"10.1016/j.ymgme.2024.108655","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108655"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection","authors":"Gheona Altarescu,&nbsp;Ari Zimran,&nbsp;Shachar Zuckerman,&nbsp;Shoshana Revel-Vilk","doi":"10.1016/j.ymgme.2024.108634","DOIUrl":"10.1016/j.ymgme.2024.108634","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108634"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Screening of alpha-mannosidosis in patients with suspected mucopolysaccharidosis (MPS) who tested negative for MPS in a Brazilian reference center","authors":"Gabrielle Dineck Iop ,&nbsp;Layzon Antonio Lemos da Silva ,&nbsp;Larissa Faqueti ,&nbsp;Henrique B.L. Borges ,&nbsp;Marina H. Lopes ,&nbsp;Marcelo Kerstenetzky ,&nbsp;Kristiane M. Tirelli ,&nbsp;Inamara Moraes ,&nbsp;Franciele B. Trapp ,&nbsp;Ana C. Brusius Facchin ,&nbsp;Mariluce Riegel-Giugliani ,&nbsp;Roberto Giugliani","doi":"10.1016/j.ymgme.2024.108702","DOIUrl":"10.1016/j.ymgme.2024.108702","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108702"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}