The Canadian MPS Society - Therapy & Treatment

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Icahn School of Medicine at Mount Sinai and Bene Pharmachem Gmbh

Q & A with Dr. Emil Kakkis in celebration of International MPS Awareness Day

Thanks to Lysogene for its International MPS Awareness Day Initiatives

Thanks to Synageva BioPharma(TM) for joining the International MPS Network in Support of MPS Awareness Day 2013

Lysogene received US Orphan Designation for its lead intracerebral gene therapy product SAF-301

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Matteo Spina (MPS I H)


THERAPY & TREATMENT Management and Care of MPS & Related Diseases Mucopolysaccharide & related diseases are complex, multi-systemic diseases and their management and care can be extremely complicated. Due to increased research, new treatments have become available for some types of MPS; however, for some types of MPS & related diseases, treatment remains symptomatic in nature. Please visit our online store for a full listing of our educational booklets, and visit the links section of our website (under support) for links to many informative websites. Therapies for MPS & Related Diseases Last updated March 2012 MPS I Enzyme Replacement Therapy Aldurazyme (laronidase) enzyme replacement therapy was licensed for use by Health Canada on May 31, 2004, for long-term treatment in patients with a confirmed diagnosis of MPS I, to treat the non-neurological manifestations of the disease. For more information on Aldurazyme, please visit www.aldurazyme.com. MPS I Intrathecal ERT for Spinal Cord Compression: Enzyme replacement therapy (ERT) has been developed for MPS I. ERT helps many physical ailments due to the disease, but does not treat the central nervous system due to inability to cross the blood brain barrier. The purpose of this study is to test delivery of ERT to the spinal fluid via intrathecal (IT) injection in patients with MPS I to find out whether giving ERT directly into the spinal canal can help reduce spinal cord compression and provide an alternative to surgery. Study participants will have: up to 16 IT ERT treatments given one to three months apart over one-and-a-half years physical examinations (general and neurologic) other diagnostic tests reimbursement of travel expenses A Study of Intrathecal ERT for Cognitive Decline in Patients with MPS I: The purpose of this research study is to find out whether giving ERT with Aldurazyme as an injection directly into the cerebral spinal fluid can stabilize or improve cognitive decline in patients who have MPS I. The term “cognitive decline” refers to a change for the worse in the ability to think and learn. Study participants will have: up to 10 treatments given one to three months apart over two years (treatment group) or four treatments given three months apart beginning at month 12 (control group) physical examinations (general and neurologic) neuropsychological testing for cognitive decline and MRI of the brain reimbursement of travel expenses Additional information can be found at www.clinicaltrials.gov; search under “mucopolysaccharidosis.” or contact Principal Investigator Dr. Patricia Dickson at 310-781-1399 or pdickson@ucla.edu. MPS I Intrathecal ERT for Children Being Considered for Transplant: The University of Minnesota in Minneapolis has obtained FDA approval for the delivery of laronidase into the spinal fluid of children with MPS I (Hurler syndrome) being considered for marrow/cord blood transplantation. The goal of these studies is to decrease the neurophsychologic decline that has been observed in children with Hurler from the time the patients are initially evaluated to the time they are one year from transplantation. The study will involve four doses of laronidase given during a lumbar puncture approximately three months before transplantation, at the time of admission to the hospital for the transplant, three months after the transplant, and six months after the date of the transplant. Principal Investigator Dr. Paul Orchard can be contacted for more information at 612-626-2961 or orcha001@umn.edu. MPS I Registry A resource available for your physician or health care professional that is dedicated to improving the understanding of MPS I. With the MPS I Registry, your physician can access your dta and compare it to aggregate data from around the world. Ask your physician to call 1-800-745-4447, ext. 17021 for more information. MPS II Enzyme Replacement Therapy On July 24, 2006 Elaprase enzyme replacement therapy was approved by the FDA to treat MPS II, and in July of 2007, Elaprase was approved by Health Canada. Shire MPS II Intrathecal Study: Dr. Joseph Muenzer will be conducting a Phase I/II (Safety/Dosage) trial using intrathecal ERT for the treatment of MPS II, with a goal of preventing central nervous system involvement. This study will take place at the University of North Carolina in Chapel Hill, NC. If you are interested in obtaining more information about the clinical trials, please contact Dr. Muenzer (919)966-1447, or study coordinator Heather Preiss at (919)843-5731. MPS II Registry (Hunter Outcome Study, or "HOS") Shire Human Genetic Therapies is actively tracking health data among individuals affected by Hunter syndrome as part of the company’s long-term outcome survey, called the Hunter Outcome Survey (HOS). HOS is designed to support the gathering, analysis, reporting and sharing of data from around the world about Hunter syndrome. Shire believes that the inclusion of all people affected by Hunter syndrome and the analysis and dissemination of this information will allow for further understanding of Hunter syndrome and disease education on a global scale. More information about ELAPRASE and Hunter syndrome is available at http://www.elaprase.com/, http://www.hunterpatients.com/, or through OnePath SM at 1 (866) 888-0660. MPS III A Phase I/II Study of ERT for MPS IIIA: Shire Human Genetic Therapies is developing a sulfamidase enzyme replacement therapy (ERT) for patients with MPS IIIA. rhHNS is being administered into the cerebrospinal fluid (CSF) via a surgically implanted intrathecal drug delivery device (IDDD), because when administered intravenously (IV) it does not cross the blood brain barrier (BBB). This study is a multicenter, multiple-dose, dose escalation study designed to evaluate the safety, tolerability, and clinical activity of up to 3 dose levels (2 doses [10 and 45mg] monthly and 1 dose [45mg] every other week for 6 months) of rhHNS administered via an IDDD in patients with Sanfilippo syndrome Type A ages greater than or equal to 3 years of age. The phase I/II clinical trial is planning to enroll 15 patients, beginning June 2010. The study is expected to be completed March 2012, and the duration of the study for each patient is nine months. The Phase I / II clinical study is being conducted at two sites: Emma Children’s Hospital, Academic Medical Center in The Netherlands by Dr. Frits Wijberg and the St. Mary’s Hospital in Manchester, UK under the direction of Drs. Simon Jones and Ed Wraith. Additional information about the clinical trial can be obtained at www.clinicaltrials.gov (Identifier: NCT01155778) or by contacting Tiffany Crump at 484-595-8257. Genistein Aglycone: Brian Bigger’s research team from the University of Manchester’s MPS Stem Cell Research Laboratory found that “Genistein may prove useful as a substrate reduction agent to delay clinical onset of MPSIIIB and, due to its multimodal action, may provide a treatment adjunct for several other neurodegenerative metabolic diseases.” Please click here to read a press release issued by the University of Manchester about Dr. Bigger’s study and click here to read the following article: Malinowska M, Wilkinson FL, Langford-Smith KJ, Langford-Smith A, Brown JR, et al. (2010) Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease. PLoS ONE 5(12): e14192. doi:10.1371/journal.pone.0014192. A clinical trial of high-dose Genistein Aglycone will be beginning soon in Manchester (UK), with Simon Jones as the principal investigator. Frits Wijburg is also conducting a Genistein study at the Amsterdam Medical Centre. Gene Therapy: Dr. J. M. Heard is currently recruiting patients for a MPS IIIB AAV gene therapy clinical trial, to be conducted at the institute Pasteur in Paris, France. MPS IV Enzyme Replacement Therapy BioMarin Pharmaceutical Inc. has concluded enrolment for its Phase 3 study (MOR-004) for N-acetylgalactosamine 6-sulfatase (GALNS) for the treatment of Morquio A Syndrome (MPS IVA). Currently there are three Canadian sites for this trial: Montreal and Sherbrooke, Quebec and Toronto, Ontario, with the possibility of an additional site in Western Canada for a new study investigating cardio-pulmonary effects of GALNS (MOR-008). MOR-008 Clinical Trial This is a Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) The primary endpoint is to evaluate the safety of 2.0 and 4.0 mg/kg/week BMRN 110 administered for 27 weeks. Secondary endpoints evaluate the effect of 2.0 and 4.0 mg/kg/week BMRN 110 on exercise capacity. Inclusion Criteria: • Has documented clinical diagnosis of MPS IVA • Is at least 7 years of age • Is able to walk ≥ 200 meters as assessed by the 6MWT • If sexually active, is willing to use an acceptable method of contraception while participating in the study • If female of childbearing potential, must have a negative pregnancy test at the Screening Visit and be willing to have additional pregnancy tests during the study • Is willing and able to perform all study procedures, including Clinical Pulmonary Exercise Test Exclusion Criteria: • Inability to perform an exercise test due to limited mobility • Body weight greater than 95 kg at screening • Severe, untreated sleep apnea as measured during screening with a home sleep testing device • Requirement for supplemental oxygen • Use of ventilator assistance in the 3 months prior to study entry • Cervical spine instability and/or evidence of spinal cord compression • Has previous hematopoietic stem cell transplant • Has received previous treatment with BMN 110 • Has a known hypersensitivity to BMN 110 or its excipients • Has had major surgery within 3 months prior to study entry or is planning to have a major surgery during the duration of the study • Has used any other investigational product (IP) or investigational medical device within 30 days prior to the beginning of the Screening Period, or requires any investigational agent prior to completion of all scheduled study assessments • Is pregnant or breastfeeding during the Screening Period or planning to become pregnant (self or partner) at any time during the study • Has a concurrent disease or condition that may interfere with study participation or safety, and/or ability to perform study procedures as determined by the Investigator • Has any condition that, in the view of the Investigator, poses a safety risk to the patient • Has any condition that, in the view of the Investigator, places the patient at high risk of poor treatment compliance or of not completing the study Further information about the trial please refer to clinicaltrials.gov or speak with your physician BioMarin’s MPS IV A program’s website (www.morquiobmrn.com) is a great place to look for current information. It will be updated at least four times per year, and of course, more often if there is significant news. In addition, visitors have the option to register on the website to receive news about updates via email. Further information about BioMarin’s MPS IV A program is available at www.clinicaltrials.gov at this link: http://www.clinicaltrials.gov/ct2/show/NCT00787995?term=morquio&rank=2. Patients or physicians who are interested in more information can contact the Society and if you have particular questions about operational aspects of BioMarin’s trials, you can contact Candice Henkel at chenkel@bmrn.com or 415-506-6973. For additional medical questions related to MPS IV A and the clinical details of BioMarin’s program, please contact the Medical Director for BioMarin’s MPS IV A program, Celeste Decker, at cdecker@bmrn.com or 415-506-6469. BioMarin Press Release - June 5, 2008. BioMarin Press Release - February 5, 2010 MPS IV Registry Information about MPS IV (Morquio syndrome) can be found at www.morquio.com. Also available at this website is the Morquio registry: once registered, it is recommended that updates be made at least annually in order to ensure natural history data is captured to provide evidence critical for developments of treatments for MPS IV. MPS VI Enzyme Replacement Therapy The U.S. Food and Drug Administration (FDA) granted marketing approval for Naglazyme(TM) (galsulfase), the first specific therapy approved for the treatment of mucopolysaccharidosis VI (MPS VI), on June 1, 2005. Editor’s note: There is no word on when BioMarin will apply for licensing approval for Naglazyme in Canada. For more information, please contact BioMarin Patient and Physician Support (BPPS) at 866-906-6100 or bpps@bmrn.com. MPS VII Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, announced it has in-licensed an enzyme replacement therapy program from St. Louis University to treat mucopolysaccharidosis type VII (MPS VII), with a goal of developing a treatment for MPS VII patients. Click here to read the full press release. A gene therapy clinical trial for MPS VII, also know as Sly syndrome, has been put on hold pending additional data. Pompe Disease Enzyme Replacement Therapy MYOZYME® (alglucosidase alfa), a recombinant form of human acid alpha-glucosidase (GAA), was approved by Health Canada on August 14, 2006 for the treatment of patients with Pompe disease (GAA deficiency). The approval of MYOZYME represents a significant milestone in the management of Canadian patients with Pompe disease as it is the first etiology specific therapy for this rare, rapidly progressing, and often fatal disease. All patients with Pompe disease have an inherited deficiency of the enzyme GAA, which works optimally in the lysosome to convert glycogen to glucose. GAA deficiency lead to glycogen accumulation in, and eventually rupture of, the lysosome resulting in cellular dysfunction, particularly in cardiac, respiratory, and skeletal muscle tissue. Prior to the approval of MYOZYME there was no approved treatment for Pompe disease that focused on the cause of the disease. Palliative and supportive care was the mainstay of treatment. The approval of MYOZYME will provide a therapeutic option for patients to manage this devastating disease. CANADIAN ASSOCIATION OF POMPE (CAP) The goal of CAP is to provide support for Canadians with Pompe disease and to raise awareness of Pompe disease in Canada and elsewhere. For more information, please visit http://www.pompecanada.com/. Alpha-Mannosidosis: Study of outcomes from transplants for Alpha-Mannosidosis* Dr. Martin Myranek from Hanover Medical School is conducting a study on the outcomes of transplants for Alpha-Mannosidosis. View the results at www.mannosidosis.org. Clinical Trial of Enzyme Replacement Therapy for Alpha-Mannosidosis The Scandinavian company Zymenex has been working for over 10 years to develop a number of Enzyme Replacement Therapies for Lysosomal diseases, including Mannosidosis. Please visit www.ISMRD.org for more information.