SPG52 is extremely rare genetic disease with only 46 cases reported worldwide. All the four subtypes of AP4-HSP show very similar phenotype and prognosis with global developmental delays, brain malformation, seizure, microcephaly, intellectual disability, absent or poor speech and hypotonia (low muscle tone) in lower extremities. All of these symptoms appear in very young age. Of the 150 confirmed
cased of AP4-HSP, very few children gained independent walking, most of them lost this ability a few years later as they develop hypertonia and muscle spasticity in lower or both lower and upper extremities. There is currently no clinical solution to stop or reverse these symptoms. The only solution is to develop a Gene Therapy based method, which can efficiently and safely replace the defective gene with a normal copy. A research team at University of Sheffield UK has almost made it to the level of clinical trial in SPG47 patients, while researcher at Universitat Autònoma de Barcelona are in the second stage of gene therapy based treatment development specifically for SPG-52 patients, one of which live in Pakistan and he is Arham Anwar. As this is extremely rare diseases, the majority of funding for research to Boston Children Hospital US and University of Sheffield is coming from CureAp4 organisation, founded by the parents of Robbie- a child in US suffering from SPG47, while most of the fund for the Universitat Autònoma de Barcelona is coming from a similar organisation called La lucha de Abril, founded by the parents of Abril, an SPG 52 kid from Spain. We are doing everything from the examination of Arham by the multidisciplinary team of medical experts to the routine Physical, Occupational, Speech and psychological therapies from our own resources and will continue to do so but research for the development of Gene Therapy based treatment is highly expensive and is not possible without the involvement of public and governments. Upon the request of Abril family- the only family behind raising fund for SPG52, to also have some fund raising activities here in Pakistan, I appeal my Pakistani community to join us in our journey to develop a cure for SPG52 kids and save Arham and many other kids, around the globe, suffering from similar condition. Thank you all for spreading our plea!
