eMedicine Specialties > Dermatology > Pediatric Diseases
Mucopolysaccharidoses Types I-VII: Treatment & Medication
Updated: May 21, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
Treatment
Medical Care
No cure exists for mucopolysaccharidosis; current treatment is symptomatic and supportive. However, possible treatments are being investigated in several clinical trials.
Current therapies
In patients with mucopolysaccharidosis type I, treatment with recombinant human alpha-L-iduronidase reduces lysosomal storage in the liver and ameliorates some clinical manifestations of the disease.27
In patients with mucopolysaccharidosis type I, laronidase significantly improves respiratory function and physical capacity, reduces GAG storage, and has a favorable safety profile.
A Hurler syndrome fibroblast cell line heterozygous for the IDUA gene that encodes alpha-L-iduronidase stop mutations Q70X or W402X shows a significant increase in alpha-L-iduronidase activity when cultured in the presence of gentamicin, resulting in the restoration of 2.8% of the normal alpha-L-iduronidase activity.
Allogeneic bone marrow transplantation (BMT) is the only long-lasting treatment that ameliorates or halts the aggressive course of the disease. Pulmonary hemorrhage is an unusual complication of BMT.28
Allogeneic hematopoietic SCT, used in severe forms of the disease, markedly prolongs survival, alleviates ventricular hypertrophy, and preserves cardiac function, but cardiac valves continue to thicken and valvular insufficiency progresses.29
Cell therapy with human amniotic epithelial cells was developed as an alternative method for enzyme replacement therapy in congenital lysosomal storage disorders, but only limited therapeutic efficacy has been reported. Some studies suggest that the transplantation of human amniotic epithelial cells transduced with adenoviral vectors can be used for the treatment of congenital lysosomal storage disorders. The multiple positive effects include reconstruction of the CNS.
Neonatal screening of these diseases should be mandatory to vastly improve outcomes. Plans are being implemented to use dried blood spots on filter paper, as is commonly performed for many other genetic diseases. Many new therapies are being adopted, which should enhance positivity and acceptance of treatment by hematopoietic SCT.
Many children who undergo SCT have deterioration in hearing following SCT. A high-risk group of children can be delineated who may benefit from more intensive audiologic monitoring following SCT.
For Maroteaux-Lamy syndrome, BMT is the only definitive form of enzyme replacement therapy available. Umbilical cord blood transplantation has also been reported as a treatment of this syndrome.
Therapy with glucocorticoids, high doses of vitamin A, thyroid hormone, lidase, and growth hormone has been attempted. Glucocorticoids and a corticotropin have been used to block the synthesis of acid mucopolysaccharides. High doses of vitamin A have been used in an effort to increase the urinary excretion of mucopolysaccharides; however, the amount excreted and the clinical response have varied. Lidase is a hyaluronidase that digests mucopolysaccharides. Thyroid hormone substitution is used in patients with hypothyroidism. Some patients with mucopolysaccharidosis are shown to have growth hormone deficiency, and in these cases, growth hormone therapy may be beneficial. Symptomatic anticonvulsive therapy is indicated when epilepsy is present. The prognosis is better and therapy is more successful when treatment is started early.
Treatment with recombinant human N -acetylgalactosamine 4-sulfatase (rhASB) is another possibility in mucopolysaccharidosis type VI. rhASB treatment reportedly was well-tolerated, and reduced lysosomal storage is evidenced by a dose-dependent reduction in urinary GAG.30
Treatments in clinical trials
No cure exists for mucopolysaccharidosis; treatment is symptomatic and supportive. However, possible treatments are being investigated in several clinical trials.
Mucopolysaccharidosis type I
Laronidase (Aldurazyme) is an enzyme replacement therapy for patients with mucopolysaccharidosis type I, a progressive, debilitating, and fatal genetic disease for which specific drug treatments currently are available. In a press release in September 2002, BioMarin and Genzyme included clinical data from the 6-month, placebo-controlled, phase 3 trial of laronidase; 6 months of data from the ongoing open-label, phase 3 extension study; and 3 years of data from the phase 1 trial and extension study. Laronidase was approved in the United States in April 2003.
The study of a double-blinded, placebo-controlled trial reported by Muenzer et al supports the use of weekly infusions of idursulfase in the treatment of mucopolysaccharidosis type II.31 Idursulfase was generally well tolerated, but infusion reactions did occur. Idursulfase antibodies were detected in 46.9% of patients.32,33
Mucopolysaccharidosis type II
In a press release from October 2002, Transkaryotic Therapies Inc (TKT) reported results from a phase 1/2 study evaluating its investigational enzyme replacement therapy with I2S as a treatment of Hunter syndrome. The randomized, double-blinded, placebo-controlled study evaluated the safety of I2S (human I2S produced by genetic engineering technology) and its clinical activity in 12 patients with Hunter syndrome. Three doses were studied (0.15 mg/kg, 0.5 mg/kg, and 1.5 mg/kg), and within each dose group, 3 patients were randomized to receive I2S and 1 was to receive placebo by a 60-min intravenous infusion biweekly for 6 months.
In the trial, I2S administration was generally well tolerated, and in the phase 1/2 trials, evidence of clinical activity with Hunter syndrome, including reduced cardiac mass, stabilized pulmonary function, and reduced GAG levels, was demonstrated. The most common adverse effects from I2S treatment were hives, chills, fever, and facial flushing. Only 1 of the 9 patients who were treated developed antibody to I2S.
Mucopolysaccharidosis type IV-A
BioMarin Pharmaceutical is developing a program to administer the missing enzyme galactose-6-sulfatase to individuals with mucopolysaccharidosis type IV-A. Studies in mucopolysaccharidosis types VI and VII animal models suggest that if given early, the enzyme can potentially change the outcome of bone and cartilage disease. Currently, no clinical trial is planned.
Mucopolysaccharidosis type VI
The clinical trial of rhASB (Aryplase), an investigational enzyme replacement therapy for mucopolysaccharidosis type VI, continues to evaluate the efficacy, safety, and pharmacokinetics of weekly intravenous infusions of 1 mg/kg of rhASB in 10 patients with mucopolysaccharidosis type VI. In June 2002, BioMarin Pharmaceutical announced findings from the 24-week open-label extension of the phase 1 clinical trial; the enzyme was well tolerated by all patients, and reduced urinary excretion of GAG was maintained in both treatment arms.34
It was confirmed in the phase 3 of the randomized, double-blinded, placebo-controlled, multicenter, multinational study that rhASB significantly improves endurance, reduces urinary GAG excretion, and has an acceptable safety profile. After 24 weeks, patients receiving rhASB walked on average 92 meter more in the 12-minute walk test and climbed 5.7 stairs per minute more in a 3-minute stair climb test than patients receiving placebo. Urinary GAG declined by -227 ±18 mcg/mg more with rhASB than placebo. Patients exposed to the drug experienced positive clinical benefits despite the presence of antibody to the protein.
Mucopolysaccharidosis type VII
Emil Kakkis, MD, PhD, and William Sly, MD, have received a grant to develop enzyme replacement for mucopolysaccharidosis type VII. They are making steady progress with BioMarin Pharmaceutical, but no timeline for human clinical trials is projected.
Updated clinical trial data and recruiting
For updated clinical trial results and for trials that are completed and recruiting see ClinicalTrials.gov.
Surgical Care
Treatment is symptomatic. Surgical procedures may include corneal transplantation, correction of nerve entrapments in the hands, and heart valve replacement.
Correction of the contractures and osteal deformities may be performed. For patients with mucopolysaccharidosis type IV, cervical myelopathy should be prevented by surgery of the cervical spine.
Occipital to C3 decompression and fusion with autogenous rib grafts may be performed. The youngest patient who underwent this successful posterior cervical arthrodesis was 17-month-old boy with Sly syndrome.
Consultations
Genetic counseling is of great importance to ensure prenatal diagnosis.
Mucopolysaccharidoses create a special challenge for the otolaryngologist. With the rare types of mucopolysaccharidosis type IV and mucopolysaccharidosis type I-S, a skilled practitioner is required to manage airway complications. The erratic deposits of mucopolysaccharides throughout the trachea should be taken into account when a decision is made to stent the airway. Proper management requires an airway that is custom made to meet the patient's needs.
Medication
N- acetylgalactosamine-4-sulfatase is a recombinant human enzyme used to treat mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). Most attempts at enzyme replacement in various forms of mucopolysaccharidosis have not been successful. Alpha-L-iduronidase is a recombinant human enzyme used to treat mucopolysaccharidosis type I that received US patent approval in November 2001 and was approved in April 2003 as a proprietary product. Laronidase (Aldurazyme), present in cell lysosomes, helps to break down mucopolysaccharides. In mucopolysaccharidosis type I patients, mucopolysaccharides accumulate in organs and tissues, particularly in the CNS, the liver, the spleen, the heart, and the skeleton. This accumulation leads to cell death and progressive tissue and organ damage.35
Enzymes
Enzyme replacement therapy with laronidase may provide clinically important benefits (ie, improved pulmonary function and walking ability, reduced excess carbohydrates stored in organs).
Laronidase (Aldurazyme)
Indicated to treat MPS type I (Hurler syndrome, Scheie syndrome, Hurler-Scheie syndrome). Used to increase catabolism of GAGs, which accumulate with MPS type I. Treatment has shown to improve walking capacity and pulmonary function. Laronidase is a polymorphic variant of the human enzyme alpha-L-iduronidase produced by recombinant DNA technology.
Adult
0.58 mg/kg IV qwk administered over 4 h; initiate at IV infusion rate of 10 mcg/kg/h and increase incrementally q15min as tolerated within first h; not to exceed 200 mcg/kg/h
Pediatric
<5 years: Not established
>5 years: Administer as in adults
None reported
Documented hypersensitivity (consider risks and benefits of readministering drug following severe hypersensitivity reaction; exercise extreme care with appropriate resuscitation measures if decision is made to readminister product)
Pregnancy
B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals
Precautions
Antibodies to laronidase develop by 12 wk; infusion-related hypersensitivity (eg, flushing, headache, rash, fever) reactions may occur (decreasing infusion rate or administering antihistamines may diminish symptoms)
Idursulfase (Elaprase)
Purified form of human I2S, a lysosomal enzyme. Hydrolyzes 2-sulfate esters of terminal iduronate sulfate residues from the GAGs dermatan sulfate and heparan sulfate in the lysosomes of various cell types. Indicated for MPS type II (Hunter syndrome) because replaces insufficient levels of the lysosomal enzyme I2S.
Adult
0.5 mg/kg IV qwk; total volume typically infused over 1-3 h; initiate at rate of 8 mL/h for first 14 min; if tolerated, may increase by 8-mL/h increments q15min; not to exceed 100 mL/h
Pediatric
<5 years: Not established
>5 years: Administer as in adults
None reported
Documented hypersensitivity
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Anaphylactoid reactions have occurred (additional monitoring required, especially for individuals with respiratory compromise); appropriate medical support should be available during infusion, and premedication with antihistamines and/or corticosteroids recommended prior to infusion; common adverse effects include infusion-related reactions (eg, pyrexia, headache, arthralgia, pruritus, malaise, visual disturbance, musculoskeletal pain, urticaria)
More on Mucopolysaccharidoses Types I-VII |
| Overview: Mucopolysaccharidoses Types I-VII |
| Differential Diagnoses & Workup: Mucopolysaccharidoses Types I-VII |
 Treatment & Medication: Mucopolysaccharidoses Types I-VII |
| Follow-up: Mucopolysaccharidoses Types I-VII |
| References |
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Further Reading
Keywords
mucopolysaccharidosis, MPS, lysosomal storage disease, glycosaminoglycans, GAGs, MPS type I-H, Hurler syndrome, MPS type I-S, Scheie syndrome, MPS type V, MPS type I-H/S, Hurler-Scheie syndrome, MPS type II, Hunter syndrome, MPS type III-A, Sanfilippo syndrome type A, MPS III-B, Sanfilippo syndrome type B, MPS III-C, Sanfilippo syndrome type C, MPS type III-D, Sanfilippo syndrome type D, MPS type IV-A, Morquio syndrome, MPS type IV-B, MPS type VI, Maroteaux-Lamy syndrome, MPS type VII, Sly syndrome
