Experimental therapies that are currently not approved for treatment as of March 2022 include the following:
A gene therapy treatment that is in early-phase clinical trials, with the technology licensed to AvroBio. Plant-based ERT (pegunigalsidase alfa) under development by the company Protalix
The substrate reduction therapy Venglustat (Ibiglustat) under development by Sanofi-Genzyme
Bio-better ERT (CDX-6311) under pre-clinical development by the company Codexis
A gene therapy (ST-920) under development by the company Sangamo. Organ-specific treatment
Pain associated with Fabry disease may be partially alleviated by enzyme replacement therapy in some patients, but pain management regimens may also include analgesics, anticonvulsants, and nonsteroidal anti-inflammatory drugs, though the latter are usually best avoided in kidney disease. The kidney failure seen in some of those with Fabry disease sometimes requires haemodialysis. The cardiac complications of Fabry disease include abnormal heart rhythms, which may require a pacemaker or implantable cardioverter-defibrillator, while the restrictive cardiomyopathy often seen may require diuretics. Prognosis
Life expectancy with Fabry disease for males was 58.2 years, compared with 74.7 years in the general population, and for females 75.4 years compared with 80.0 years in the general population, according to registry data from 2001 to 2008. The most common cause of death was cardiovascular disease, and most of those had received kidney replacements. Epidemiology
Fabry disease is panethnic, but due to its rarity, determining an accurate disease frequency is difficult. Reported incidences, ranging from one in 476,000 to one in 117,000 in the general population, may largely underestimate the true prevalence.
Progressive scoliosis can generally be managed with standard instrumentation and fusion techniques. Surgical management in the craniofacial skeleton is complicated by frequent post-operative FD regrowth, and should focus on correction of functional deformities. Prophylactic optic nerve decompression increases the risk of vision loss and is contraindicated.Managing endocrinopathies is a critical component of management in FD. All patients with fibrous dysplasia should be evaluated and treated for endocrine diseases associated with McCune–Albright syndrome. In particular untreated growth hormone excess may worsen craniofacial fibrous dysplasia and increase the risk of blindness. Untreated hypophosphatemia increases bone pain and risk of fractures. See also
Cherubism
Dysplasia
McCune–Albright syndrome

References
Further reading
GeneReviews entry for Fibrous Dysplasia/McCune-Albright Syndrome


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