Is there a cure for Pompe disease?
While there is no cure for Pompe disease, enzyme replacement therapy can reduce or slow the progression of the disease. This lifesaving therapy was developed at Duke following clinical trials that allowed children with Pompe disease to access the therapy before it was widely available.
Who treats Pompe disease?
- 43a North Lane
- Buriton, Hampshire GU31 5RS UK
- Phone: 4401730231554
- Email: [email protected]
- Website: https://pompe.uk/
How does Myozyme treat Pompe disease?
Tell your caregivers or get emergency medical help right away if you have:
- a feeling like you might pass out, even while lying down;
- slow heart rate, weak pulse, fainting, slow breathing (breathing may stop);
- bronchospasm (wheezing, tight feeling in your chest or throat, trouble breathing);
- pale skin, cold or clammy skin, blue lips or fingernails, cold hands or feet;
How is Pompe disease treated?
Pompe disease is treated with enzyme replacement therapy, or ERT. ERT slows but does not halt the overall progression of disease. In people living with Pompe disease, the body starts to break down the acid alpha-glucosidase (GAA) enzyme immediately after administration of ERT, so people on ERT typically receive lifelong biweekly infusions.
What is treatment for Pompe disease?
Enzyme replacement therapy (ERT) is an approved treatment for all patients with Pompe disease. It involves the intravenous administration of recombinant human acid alpha-glucosidase (rhGAA).
Does Pompe disease have a cure?
Medical Care. Unfortunately, no cure exists. However, Pompe disease has benefited from the introduction of enzyme replacement therapy (ERT), which, although expensive, is a major therapeutic advance.
How does enzyme replacement therapy work for Pompe disease?
Enzyme replacement therapy (ERT) is the only effective form of treatment for Pompe disease. It consists of injecting alpha-glucosidase directly into your bloodstream. As a result, your body breaks down glycogen stores and prevents toxic buildups in your cells.
What current research is being done to develop a cure for Pompe disease?
Researchers at Duke Health are developing a gene therapy approach for Pompe disease. This treatment uses a virus to deliver a healthy copy of the gene that is mutated in Pompe, the GAA gene, into the patients' liver cells.
How is enzyme replacement therapy done?
Enzyme Replacement Therapy: The Basics The most common method of ERT is through IV infusions, in which the replacement enzyme is administered directly into the bloodstream through a controlled drip of fluids.
How does enzyme replacement therapy work?
How Does Enzyme Replacement Therapy Work? ERT balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. This enzyme breaks down glucocerebroside, the fatty chemical that accumulates in the body of patients with Gaucher disease.
What type of doctor treats Pompe disease?
Because Pompe disease can affect many parts of the body, it's best to see a team of specialists who know the disease well and can help you manage your symptoms. This might include: A cardiologist (heart doctor) A neurologist, who treats the brain, spinal cord, nerves, and muscles.
How is Myozyme made?
The active substance in Myozyme, alglucosidase alfa, is a copy of human alpha-glucosidase, which is produced by a method known as 'recombinant DNA technology': the enzyme is made by a cell that has received a gene (DNA) that makes it able to produce the enzyme.
Why does Pompe disease cause cardiomegaly?
In the classic infantile form of Pompe disease, clinically significant glycogen storage occurs in cardiac muscle. Over time, cardiomegaly with LV thickening occurs, eventually leading to outflow tract obstruction. Glycogen storage in skeletal muscle leads to hypotonia and weakness.
Team Treatment for Pompe Disease
A clinical geneticist is often the main doctor who manages care for Pompe disease. Other specialists treat complications the condition can cause.
Helpful Adaptive Equipment With Pompe Disease
Physical therapists can help you or your baby lessen muscle weakness and build strength. For Ryan Colburn, physical therapy -- and the physical activity it helps him do -- has been a crucial treatment for his late-onset Pompe disease.
What is Pompe disease?
Enlarged and thickening heart or heart defects. Enlarged liver. Enlarged tongue. If you're older when symptoms start -- as late as an adult in your 60s -- it's known as late-onset Pompe disease. This type tends to move slowly, and it doesn't usually involve your heart.
How long does it take for a baby to get Pompe disease?
It can take about 3 months to diagnose Pompe disease in a baby. It can take as long as 7-9 years for kids and adults. After doctors are sure, it's a good idea to test family members for the gene problem, too. Questions for Your Doctor.
Can you use a feeding tube for Pompe disease?
You might need to use a feeding tube to make sure you get enough nutrients. What to Expect. Because Pompe disease can affect many parts of the body, it's best to see a team of specialists who know the disease well and can help you manage your symptoms. This might include:
Treatment
Pompe disease is a multisystem disorder caused by mutations in the GAA gene that codes for the enzyme, acid alpha-glucosidase (GAA), 1 which breaks down glycogen into glucose to be used as an energy source for the cells. Defects in the enzyme prevent glycogen breakdown, causing a toxic accumulation of glycogen inside the cells.
Enzyme Replacement Therapy
Currently, the only available, specific, and effective treatment for Pompe disease is enzyme replacement therapy (ERT), 3 which was first approved in 2006 for use in patients with infantile-onset Pompe disease (IOPD).
Limitations of ERT
ERT has improved cardiac function and extended survival times in patients with IOPD. However, patients are not fully cured and residual symptoms remain. Respiratory and swallowing functions are only stabilized. About 30% of patients who received ERT still require assisted ventilation. 5
Future ERT Studies
To overcome the limitations of rhGAA therapy, modified rhGAA (avalglucosidase alfa, Neo-GAA) with a higher affinity for M6P receptors is being investigated in a phase 3 clinical study (NCT02782741). 6
What is Pompe disease?
Pompe disease is a rare, multisystemic, hereditary disease, which is caused by ‘pathogenic variations’ (abnormalities / mutations) in the ‘ GAA gene’. The GAA gene contains the genetic information for the production and function of a protein called ‘acid alpha-glucosidase’ (GAA). Shortage of this protein hampers the degradation ...
How does gene therapy help Pompe disease?
Gene therapy in Pompe disease is directed toward restoring the acid alpha-glucosidase (GAA) production and activity in crucial tissues like the diaphragm to improve respiratory capacity. Other gene therapy efforts seek to restore the body’s ability to produce acid alpha-glucosidase (GAA) by transducing a ‘normal’ GAA gene copy in the patient’s liver cells (via intravenous administration) or in bone marrow stem cells -taken out of the body, modified outside the body, and put back into the body- (HSCGT; hematopoietic stem cell gene therapy). At present, multiple groups are working to advance gene therapy to the clinical trial stage.
What is stabilization in Pompe disease?
Stabilization is a gain given the natural progression of the disease in untreated patients. Supportive Therapies. Additional treatment of Pompe disease is symptomatic and supportive. Respiratory support may be required, as most patients have some degree of respiratory compromise and/or respiratory failure.
How long does a Pompe patient live?
Currently in 2020, it is broadly agreed that ERT extends the life expectancy of patients with classic-infantile Pompe disease / IOPD with years (the longest treated patient is at present 24 years old). However, it is also agreed that these patients are not fully cured and that residual symptoms remain.
How much risk of Pompe disease for a child?
Pompe disease carriers will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy.
Is Pompe disease inherited?
Pompe disease is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease. Pompe disease carriers will not show symptoms.
Therapies
Pompe disease is a rare, autosomal recessive disease that affects between 1 in 40,000 and 1 in 300,000 live births. 1 This disease is also referred to as glycogen storage disease (GSD) type II or acid maltase deficiency.
Enzyme Replacement Therapy
Alpha-glucosidase (GAA) is a critical enzyme that impacts normal muscle development and function. GAA binds to mannose-6-phosphate receptors for transport into the lysosomes where it is cleaved to increase its enzymatic activity and ability to break down glucose. 2
Gene Therapy
While it is still in development, in vivo gene therapy uses GAA gene transfer with adeno-associated virus (AAV) vectors to aid in stable production of the GAA enzyme to treat Pompe disease. Gene therapy has been shown to reduce lysosomal glycogen storage and improve phenotypic characteristics of Pompe disease in preclinical studies.
Pulmonary Rehabilitation Therapy
Pulmonary rehabilitation therapy strengthens the respiratory muscles to reduce or delay the need for mechanical ventilation in adults with late-onset Pompe disease (LOPD). 5 One study showed that inspiratory muscle training (IMT) used in conjunction with ERT to treat patients with LOPD showed a positive effect on maximum inspiratory pressure.
Physical Therapy
Physical therapy counters the hypotonicity and skeletal muscle decline found in Pompe disease by developing individualized exercise programs including aerobic conditioning, resistance training, and core stabilization.
Speech Language Therapy
Facial-muscle weakness, speech disorders, and progressive dysphagia are common in long-term survivors receiving ERT for classic infantile Pompe disease.
