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


Alexander Disease

Anastasis drives senescence and non-cell autonomous neurodegeneration in the astrogliopathy Alexander disease

GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease

Alexander disease evolution over time: data from an Italian cohort of paediatric-onset patients


Canavan Disease (CD)

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


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

Azafaros Receives FDA Orphan Drug Designation for AZ-3102 in GM2 Gangliosidosis

Passage Bio Presents New Interim Clinical Data for Patients with GM1 Gangliosidosis in Imagine-1 Study at 2022 WORLDSymposium


Krabbe Disease

Passage Bio doses first patient in global clinical trial for infantile Krabbe disease, a rare fatal pediatric condition


Mucolipidosis type IV disease

Structural mechanism of allosteric activation of TRPML1 by PI(3,5)P2 and rapamycin


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

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)


Unknown Type of Leukodystrophy

Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease

Alex - The Leukodystrophy Charity