The Cell and Gene Therapy Collaborative at Children’s Hospital of Philadelphia is conducting gene therapy clinical trials for MPS 1, with the aim of developing new gene therapies for this disease. Patients are also followed by other subspecialists including Pulmonology, Cardiology, and Orthopedics, among others. Patients are followed at least every six months by the Lysosomal Storage Disease (LSD) Center at Children’s Hospital of Philadelphia (CHOP) in the multidisciplinary MPS clinic which includes appointments with Physical Therapy and Developmental Pediatrics.

What happens in people with MPS disease is that their cells are deficient in lysosomal enzymes. The enzymes in the lysosomes digest carbs, fats, and other nutrients. Lysosome plays an important role in the cell as it acts as the primary digestive unit. Treatment is also geared towards management of the individual symptoms of MPS 1. MPS stands for mucopolysaccharidoses, which is a group of inherited lysosomal storage disorder. Regardless of severity, individuals with MPS 1 need lifelong follow up with a metabolic specialist to ensure appropriate care. Neither treatment will completely prevent symptoms of disease, and other treatments/procedures are still commonly recommended, even for patients who have undergone transplant. MPS I (mucopolysaccharidosis I) is an inherited lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase, a lysosomal enzyme normally. ERT uses an intravenous solution to replace the deficient or missing alpha-L-iduronidase enzyme in the body. Hematopoietic stem cell transplantation (HSCT) can help some patients who have the severe form of the disease, and is generally recommended within the first 1-2 years of life.Įnzyme replacement therapy (ERT) is recommended for individuals with the milder forms of MPS 1. These investigative treatments are critical to address the limitations in treatment of the central nervous system (CNS).There is no cure for MPS 1, however, there are effective treatments that are proven to slow the progression of disease. For other diseases, symptoms may begin any time during a persons life. Lysosomes function as the primary digestive units within cells. For some diseases, symptoms may begin in a single age range or several age ranges. The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. Mucopolysaccharidosis type VI (MPS VI), or Maroteaux Lamy Syndrome (MIM 253200), is a Lysosomal Storage Disorder (LSD) biochemically characterized by a. Intrathecal ERT and gene therapy are currently under investigation as future therapies. The most common ages for symptoms of a disease to begin is called age of onset. This review provides a historical account of MPS II treatment as well as treatment development with insights into benefits and/or limitations of each specific treatment.Įxpert opinion: Conventional ERT and HSCT coupled with surgical intervention and palliative therapy are currently the treatment options available to MPS II patients. Treatment approaches differ based on age, clinical severity, prognosis, availability and feasibility of therapy, and health insurance. Clinical trials are being conducted for intrathecal ERT and gene therapy is under pre-clinical investigation. Phenotypes are classified as either attenuated or severe (based on absence or presence of central nervous system impairment, respectively).Īreas covered: Current treatments available are intravenous enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), anti-inflammatory treatment, and palliative care with symptomatic surgeries. MPS-II is a rare, progressive, genetic lysosomal storage disorder that affects many parts of the body including the airways, head, heart, brain, spleen. How is the disease inherited MPS IV is caused by a recessive gene. Reliable incidence figures are not available, but estimates find the disease in 1 in 200,000 to 300,000 individuals. MPS II is both multi-systemic and progressive. MPS IV is one of the rarest of the MPS diseases in the United States. IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan sulfate (HS). Introduction: Mucopolysaccharidosis Type II (MPS II Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS).

Mps disease