Research Summary: March 2022
Research summary of recent leukodystrophy research and clinical trials, includes titles and direct links to websites and articles.
Adrenoleukodystrophy (ALD)
Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
https://www.mdpi.com/2409-515X/8/1/16/html
Alexander Disease
Anastasis drives senescence and non-cell autonomous neurodegeneration in the astrogliopathy Alexander disease
https://pubmed.ncbi.nlm.nih.gov/35105675/
GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease
https://pubmed.ncbi.nlm.nih.gov/35003479/
Alexander disease evolution over time: data from an Italian cohort of paediatric-onset patients
https://pubmed.ncbi.nlm.nih.gov/34865968/
Canavan Disease (CD)
Myrtelle Announces Positive Preliminary Clinical Data for Its Proprietary Gene Therapy in Canavan Disease
https://www.myrtellegtx.com/news/myrtelle-announces-positive-preliminary-clinical-data-for-its-proprietary-gene-therapy-in-canavan-disease
Giant Axonal Neuropathy (GAN)
Taysha Gene Therapies Reports Positive Clinical Efficacy and Safety Data for High Dose Cohort and Long-term Durability Data for TSHA-120 in Giant Axonal Neuropathy
https://ir.tayshagtx.com/news-releases/news-release-details/taysha-gene-therapies-reports-positive-clinical-efficacy-and
GM1 gangliosidosis & GM2 gangliosidosis
Sio Gene Therapies Announces Prioritization of Lead Gene Therapy Programs in GM1 and GM2 Gangliosidosis, Extension of Cash Runway, and CEO Transition
https://investors.siogtx.com/news-releases/news-release-details/sio-gene-therapies-announces-prioritization-lead-gene-therapy
Azafaros Receives FDA Orphan Drug Designation for AZ-3102 in GM2 Gangliosidosis
https://www.azafaros.com/wp-content/uploads/2022/02/20220201-Azafaros-ODD-Designation_FINAL.pdf
Passage Bio Presents New Interim Clinical Data for Patients with GM1 Gangliosidosis in Imagine-1 Study at 2022 WORLDSymposium
https://www.passagebio.com/investors-and-news/press-releases-and-statements/news-details/2022/Passage-Bio-Presents-New-Interim-Clinical-Data-for-Patients-with-GM1-Gangliosidosis-in-Imagine-1-Study-at-2022-WORLDSymposium/default.aspx
Krabbe Disease
Passage Bio doses first patient in global clinical trial for infantile Krabbe disease, a rare fatal pediatric condition
https://www.alextlc.org/krabbe-disease-gene-therapy/
Mucolipidosis type IV disease
Structural mechanism of allosteric activation of TRPML1 by PI(3,5)P2 and rapamycin
https://www.pnas.org/doi/10.1073/pnas.2120404119
Metachromatic Leukodystrophy (MLD)
Homology Medicines Announces Presentations on HMI-203 Investigational Gene Therapy for Hunter Syndrome and Broad Applicability of AAVHSC Platform for Lysosomal Storage Disorders
https://www.homologymedicines.com/news-story/homology-medicines-announces-presentations-on-hmi-203-investigational-gene-therapy-for-hunter-syndrome-and-broad-applicability-of-aavhsc-platform-for-lysosomal-storage-disorders-at-the-18th-annual-wor
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
https://pubmed.ncbi.nlm.nih.gov/35164810/
Unknown Type of Leukodystrophy
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
https://pubmed.ncbi.nlm.nih.gov/35217805/
