Medical Care
Currently, no effective medical treatment is available for the underlying disorder in patients with G M1 gangliosidosis. Bone marrow transplantation was successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. [28] Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment because of success in other lysosomal storage disorders. [29]
Symptomatic treatment for some neurologic sequelae is available but does not significantly alter the clinical course.
Active research in the areas of enzyme replacement and gene therapy for GM1 gangliosidosis is ongoing but has not advanced to human trials. [2] In cats, AAV gene therapy has shown significant therapeutic benefit, resulting in near-normal function up to 5 years posttreatment. [30]
Researchers at the University of Minnesota are conducting a 5-year longitudinal phase 4 study using a combination of miglustat and the ketogenic diet for infantile and juvenile G M1 gangliosidosis. [31] An Italian study published in June 2017 used miglustat as treatment in three patients with GM1 gangliosidosis (2 juvenile, 1 adult) and showed a reduction of disease progression and, in some measures, reversal of symptoms. [32]
Consultations
See the list below:
-
Clinical geneticist - For initial evaluation and diagnosis, to counsel families regarding recurrence risk, and to help provide prenatal testing for future pregnancies
-
Neurologist - For symptomatic therapy of multiple neurologic sequelae
-
Cardiologist - To evaluate for cardiomyopathy
-
Orthopedist - To evaluate for dysostosis multiplex
-
Ophthalmologist - To evaluate for ocular stigmata
-
Otolaryngologist and audiologist - To assess for hearing loss [33]
Diet
No specific dietary modifications have been shown to significantly alter the clinical course.
Infants may ultimately require tube feeding to provide adequate intake of energy; however, nutritional support does not change the disease course, and some families may choose to forgo invasive alimentation procedures.
Activity
Neurologic and orthopedic sequelae may preclude adequate physical activity, and patients with GM1 gangliosidosis may benefit from physical and occupational therapy.
