Tag Archives: hunter syndrome

Hunter Syndrome Treatments

 

Hunter Syndrome Treatments

Catching Hunter Syndrome at an early stage is crucial for treatment. A child can undergo a bone marrow transplant where bone marrow is taken from the hip of a donor and transplanted into a child. This treatment may help lessen breathing difficulties or problems with mobility, as well as improve heart, liver, and spleen functions. It can also prevent a child’s mental regression.

 

Another possible treatment option is enzyme therapy. This therapy replaces the missing or defective enzymes of a child with man-made or genetically engineered enzymes, which eases many symptoms of Hunter Syndrome. Unfortunately, this treatment comes with some risks and has side effects to the body including headache, fever, skin reactions, and high blood pressure.

 

A third option is gene therapy, which effectively replaces the chromosome for producing the missing enzyme of the body.

 

What are the complications of Hunter Syndrome treatments?

There are several things to consider when choosing the right therapy for a child as each comes with considerable complications. For example, relief for respiratory complications the tonsils and adenoids are removed, but as the disease progresses the tissues thicken and respiratory complications could return. Addressing heart complications could result in surgery to replace heart valves, which comes with its own set of dangers to be aware of.

 

Other complications arise when treating connective tissue problems, managing behavioral problems, and addressing sleep difficulties. Physical therapy will improve joint flexibility, but it will not stop the progression of joint motion. Behavioral problems or issues with sleep can be managed through medication, but these medications could in fact lead to other complications with the disease.

 

How can we manage Hunter Syndrome?

Talk to your doctor, first. There are genetic tests that are available if you believe you could be a carrier of Hunter Syndrome. Second, be positive! A child suffering from Hunter Syndrome needs encouragement and love. Be sure to keep the child active so that the joints remain flexible and mobile. And finally, educate and learn. Nothing is more satisfying to a child than learning, so teach them as much as you can while the brain is still functioning properly. Learn for yourself, as well. There are plenty of online communities available to you and your family to help educate you on Hunter Syndrome.

This is only a brief overview of currently-approved and available hunter syndrome treatments. Info from Breaking Barriers Hunter Syndrome Trial.

 

What Is Hunter Syndrome?

 

What is Hunter Syndrome? Hunter Syndrome (also known as mucopolysaccharidosis II or MPS II) is a disorder that occurs when an enzyme the body needs is either missing or it does not work properly. If the body does not have enough enzymes, it cannot break down the kind of sugar that builds bones, skin, tendon, and other tissue. Hunter syndrome eventually causes permanent, progressive damage affecting the appearance, mental development, organ function, and physical abilities of a child.

 

This rare genetic disorder affects mostly males as young as 18 months and has no known cure. The current treatment for Hunter Syndrome involves the management of symptoms, but it has many complications.

What are the symptoms of Hunter Syndrome?

The symptoms of Hunter Syndrome vary person to person. It’s not always present at birth, but indications of this syndrome are known to show up between 2 and 4 years of age. If the symptoms occur at an early age it is usually more severe.

what is Hunter Syndrome InfoGraphic

What causes MPS II?

Children who suffer from Hunter Syndrome inherit the disease from their parents. When a chromosome is missing or malfunctioning, it is usually because the mother was carrying MPS II. However, a father suffering from Hunter Syndrome can also pass it to his daughter who will eventually pass it to her son.

 

 

Hunter Syndrome Support Groups

Hunter Syndrome (MPS 2) Support Groups

 

If you or a loved one has Hunter syndrome, there are many dedicated organizations, Hunter Syndrome Support groups and other resources that foster education, support and research for these diseases.

 

We encourage patients and caregivers living with Hunter syndrome to learn more about ongoing clinical trials for investigational therapies.”-  Barbara Wedehase, MSW, CGC, Executive Director of the National MPS Society

 

CLICK THE LOGOS ABOVE TO BE LINKED TO THEIR WEBSITES

Participating Physicians Hunter Syndrome Trials

Participating Physicians – Hunter Syndrome Trial aka Mucopolysaccharidosis II or MPS2

Oakland Children’s Hospital

Dr. Paul Harmatz

Contact: Jacqueline Madden, PNP
510-428-3885 ext 5745
jmadden@mail.cho.org

Oakland, CA

SEE IF YOU QUALIFY

Children’s Hospital of Orange County

Dr. Raymond Wang

Contact: Nina Movsesyan
714-509-3008
nmovsesyan@choc.org

Orange, CA

SEE IF YOU QUALIFY

Emory Lysosomal
Storage Disease Center

Dr. William R. Wilcox

Contact: Stephanie Cagle
404-778-8421
stephanie.cagle@emoryhealthcare.org

Decatur, GA

SEE IF YOU QUALIFY

Ann & Robert H. Lurie Children’s
Hospital of Chicago

Dr. Barbara K. Burton

Contact: Rachel Katz
312-227-6764
rkatz@luriechildrens.org

Chicago, IL

SEE IF YOU QUALIFY

University of Minnesota

Dr. Chester B. Whitley

Contact: Brenda Diethelm-Okita
612-625-1594
dieth001@umn.edu

Minneapolis, MN

SEE IF YOU QUALIFY

Children’s Hospital
of Pittsburgh of UPMC

Dr. Gerard Vockley

Contact: Nadene Henderson, MS, CGC
412-692-6065
Ndh3@Pitt.edu

Pittsburgh, PA

SEE IF YOU QUALIFY

O & O Alpan, LLC

Dr. Ozlem Goker-Alpan

Contact: Chidima Ioanou
571-308-1905

Fairfax, VA 22030

SEE IF YOU QUALIFY

University Medical Center
Hamburg Eppendorf

Dr. Nichole M. Muschol

Contact: Nicole M Muschol, MD
+49 40 7410 20400
muschol@uke.de

Hamburg, Germany

SEE IF YOU QUALIFY

ZKJM MC University of Mainz

Dr. Julia Hennermann

Contact: Julia Hennermann, MD
+49(0) 6131 175754
julia.hennermann@unimedizin-mainz.de

Mainz, Germany

SEE IF YOU QUALIFY

HSK Dr. Horst-Schmidt-Kliniken GmbH

Dr. Christina Lampe

Contact: Christina Lampe, MD
+49 (611) 43-2314
christina.lampe@helios-kliniken.de

Wiesbaden, Germany

SEE IF YOU QUALIFY

Erasmus Medical Center

Dr. JMP van den Hout

Contact: Hannerieke van den Hout, MD
+31 (0) 10 7037 278
j.vandenhout@erasmusmc.nl

Rotterdam, Netherlands

SEE IF YOU QUALIFY

Institute of Human Genetics

Dr. Chiong

Contact: Angela Q Villa
+63 2 310 1780 ext 108
aqviall@post.upm.edu.ph

Manila, Phillipines

SEE IF YOU QUALIFY

About Breaking Barriers Clinical Trial

The Breaking Barriers Clinical Trial of AGT-182 is a Phase 1 trial that will test the safety and determine a well-tolerated dose of AGT-182 for the treatment of patients with Hunter Syndrome.

Participating in the Trial

Physicians at leading research institutions who specialize in hunter syndrome treatment are conducting the AGT-182 clinical trial. If you or a loved one has been diagnosed with Hunters syndrome and would like to participate in the clinical trial, please view the “Participating Physicians” page for the study center nearest to you. To find out if you qualify for the Hunter Disease trial you may:

  • Contact the clinical site via the contact form through this website
  • Call the clinical site directly

Key participation criteria:

  • Ages 18 or older
  • Diagnosed with Hunter syndrome
  • Available for 8 weeks of investigational treatment
  • Willing to discontinue standard enzyme replacement therapy and switch to AGT-182 for the duration of their participation in the clinical trial.

OR

For more information on the trial, please view the “Frequently Asked Questions” page or visit:

What is Hunter Syndrome?

What is Hunter Syndrome?

  • Hunter syndrome, also known as mucopolysaccharidosis type II, or MPS 2, is a rare, hereditary metabolic disorder that primarily affects males; it is often severe and almost always progressive.
  • In people with MPS syndrome, the  iduronate-2-sulfatase (IDS) enzyme, which  breaks down complex sugars, is missing or not working properly.
  • This leads to an abnormal buildup of complex sugars in tissues throughout the body, including the brain, skeleton, joints, spinal cord, heart spleen, or liver.
  • Physical symptoms include growth delay, joint stiffness and coarsening of facial features
  • When severe, MPS disease can cause respiratory and cardiac problems, enlargement of the liver and spleen, and premature death.
  • Hunter syndrome can also cause neurological deficits that can lead to progressive dementia and a progressive decrease in IQ points.

Home

RECENT STUDY UPDATE! Click here to download the Newsletter:
Study Update from Armagen 3-18-16

Researchers are conducting a clinical trial of AGT-182, an investigational treatment for people with Hunter Syndrome aka mucopolysaccharidosis II or MPS 2.

AGT-182 is an enzyme replacement therapy (ERT) designed to treat both the body-related (somatic) and central nervous system (CNS) symptoms and complications of Hunter syndrome.

Currently approved treatments for Hunter syndrome (or MPS 2) are unable to treat the brain (CNS) because of the enzyme’s inability to cross the blood-brain barrier (BBB). The BBB is a filter that protects the brain from toxins but allows vital nutrients like insulin to cross from the blood into the brain. As a result, available therapies for MPS disease do not address many of the severe and progressive neurological complications of the Hunter Syndrome. AGT-182 is designed to cross the BBB in the same way insulin does.

Please CLICK HERE to find out how you or a loved one can participate in this trial.

Safety Information
This Hunter Syndrome trial is monitored and approved by a Data Monitoring Committee (DMC) and safety will be reported to an institutional review board to ensure the safety of the participants.