{"id":1563,"date":"2016-11-09T17:36:30","date_gmt":"2016-11-09T17:36:30","guid":{"rendered":"http:\/\/blogs.cooperhealth.org\/sjmedicalreport\/?p=1563"},"modified":"2016-11-09T17:36:30","modified_gmt":"2016-11-09T17:36:30","slug":"new-solutions-for-patients-with-lysosomal-storage-diseases","status":"publish","type":"post","link":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/2016\/11\/09\/new-solutions-for-patients-with-lysosomal-storage-diseases\/","title":{"rendered":"New Solutions for Patients with Lysosomal Storage Diseases"},"content":{"rendered":"
Tweet<\/a><\/div>\n

Lysosomal storage diseases\u00a0(LSDs) are some of the most\u00a0challenging disorders facing\u00a0patients and clinicians. Fortunately,\u00a0the Lysosomal Disorders\u00a0Center at Cooper \u2013 the only\u00a0resource of its kind in South\u00a0Jersey \u2013 provides diagnostic\u00a0evaluation, multispecialty care,\u00a0and management of both adults\u00a0and children with these disorders\u00a0in a single, convenient\u00a0location.<\/p>\n

\"Jaya

Jaya Ganesh, MD Associate Professor, Division of Genetics, Children\u2019s Regional Hospital at Cooper.<\/p><\/div>\n

\u201cLysosomal storage\u00a0diseases are a group of about 50\u00a0rare, inherited metabolic disorders caused\u00a0by missing or poorly functioning enzymes,\u201d\u00a0explains Jaya Ganesh, MD<\/a>, Associate\u00a0Professor in the Division of Genetics<\/a> at\u00a0Children\u2019s Regional Hospital at Cooper<\/a>,\u00a0referring to the enzymes within lysosomes\u00a0that digest large molecules and pass the\u00a0fragments on to other parts of the cell for\u00a0recycling.<\/p>\n

\u201cWhen they don\u2019t function properly,\u00a0chemicals that should have been degraded\u00a0accumulate excessively, damaging various\u00a0organs,\u201d she continues. \u201cIn many instances,\u00a0this damage occurs gradually, and symptoms\u00a0can be very non-specific, mimicking more\u00a0common diseases and delaying diagnosis.\u00a0Sadly, permanent organ damage may occur\u00a0before a definite diagnosis is made.\u201d<\/p>\n

LSDs have an estimated combined\u00a0incidence of 1 in 5,000 to 1 in 10,000 live\u00a0births. Until the early nineties, treatment\u00a0was limited to symptom management and\u00a0supportive care. In 1991, however, enzyme\u00a0replacement therapy (ERT)<\/a> became\u00a0available for Type I Gaucher disease, one\u00a0of the more common LSDs.\u00a0Since then, ERT has become\u00a0available for other LSDs\u00a0including Fabry disease, Pompe\u00a0disease, mucopolysaccharidosis\u00a0Types I, II, IV and VI,\u00a0and lysosomal acid lipase\u00a0deficiency.<\/p>\n

\u201cThe principle of ERT is\u00a0to replace deficient enzymes in\u00a0LSD patients with synthesized\u00a0functional enzymes,\u201d Dr. Ganesh\u00a0says. \u201cThe synthetic enzyme\u00a0is infused intravenously,\u00a0on a weekly or biweekly basis,\u00a0indefinitely.\u201d<\/p>\n

This underscores\u00a0the importance of having\u00a0an easily accessible\u00a0facility for patients\u00a0and families affected\u00a0by LSDs. Before the\u00a0Lysosomal program\u00a0began in 2015, patients\u00a0had to travel long distances\u00a0and sometimes\u00a0out of state to obtain\u00a0the comprehensive care they require.<\/p>\n

\u201cSome individuals simply couldn\u2019t\u00a0travel and went without treatment,\u201d Dr.\u00a0Ganesh notes. \u201cBut now we\u2019re able to take\u00a0care of them closer to home.\u201d<\/p>\n

ERT is initially administered onsite\u00a0at Cooper\u2019s Short Procedure Unit\u00a0(SPU). Once they are stable, patients\u00a0are transitioned to home infusions while\u00a0continuing to receive multispecialty care\u00a0from the team of geneticists, neurologists,\u00a0nephrologists, cardiologists, and other\u00a0subspecialists specially trained in LSD\u00a0care. The multidisciplinary team also\u00a0includes nurses, physical therapists, and\u00a0pharmacists. Comprehensive genetic\u00a0counseling is provided for affected families.<\/p>\n

\u201cWhile there currently is no cure for\u00a0LSDs, ERT can relieve disease-specific\u00a0symptoms, improve organ function,\u00a0prevent ongoing damage, and improve\u00a0overall quality of life for affected patients,\u201d\u00a0she adds.<\/p>\n

Notably, newborn screening for\u00a0several LSDs is slated to launch in New\u00a0Jersey in 2017. The Lysosomal Disorders\u00a0Center will provide comprehensive care\u00a0for these babies and their families.<\/p>\n

In addition, the\u00a0Center\u2019s participating\u00a0faculty and staff\u00a0participate in international\u00a0collaborative\u00a0lysosomal disease registry\u00a0programs\u2014longitudinal,\u00a0observational\u00a0databases that track\u00a0outcomes of routine\u00a0clinical care for this\u00a0patient population.<\/p>\n

\u201cWe\u2019re hopeful that this data\u00a0will provide information to facilitate\u00a0development of more targeted therapies\u00a0in the future,\u201d Dr. Ganesh says. \u201cPlus,\u00a0several novel treatments including use\u00a0of molecular chaperones and substrate\u00a0inhibition therapy are currently under\u00a0development.<\/p>\n

\u201cWe are dedicated to remaining\u00a0on the cutting edge of research and\u00a0treatment by providing comprehensive\u00a0and compassionate care for all our patients\u00a0affected by these diseases,\u201d she adds. \u25a0<\/p>\n

 <\/p>\n

While the program is housed within Children\u2019s Regional Hospital at Cooper,
\nboth\u00a0<\/strong>children and adults can access its services.
\nTo schedule an appointment or speak with\u00a0<\/strong>a member of the Lysosomal Disorders Center, please call 856.968.7255.<\/strong><\/p>\n

\n","protected":false},"excerpt":{"rendered":"

Lysosomal storage diseases (LSDs) are some of the most challenging disorders facing patients and clinicians. Fortunately, the Lysosomal Disorders Center at Cooper \u2013 the only resource of its kind in South Jersey \u2013 provides diagnostic evaluation, multispecialty care, and management of both adults and children with these disorders in a single, convenient location.<\/p>\n","protected":false},"author":7,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4,161],"tags":[87,167,166,168],"class_list":{"0":"entry","1":"post","2":"publish","3":"author-rmineo","4":"has-excerpt","5":"post-1563","7":"format-standard","8":"category-news-updates","9":"category-technology","10":"post_tag-childrens-regional-hospital-at-cooper","11":"post_tag-genetic-program","12":"post_tag-lysosomal-storage-diseases","13":"post_tag-pediatric-genetic-program"},"_links":{"self":[{"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/posts\/1563","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/comments?post=1563"}],"version-history":[{"count":1,"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/posts\/1563\/revisions"}],"predecessor-version":[{"id":1564,"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/posts\/1563\/revisions\/1564"}],"wp:attachment":[{"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/media?parent=1563"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/categories?post=1563"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.cooperhealth.org\/sjmedicalreport\/wp-json\/wp\/v2\/tags?post=1563"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}