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Pompe disease a disorder occurring at any age

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Pompe disease is a hereditary genetic disease which mainly affects the muscles and in particular the respiratory muscles, the diaphragm and the intercostal muscles, and in the most serious forms, it affects the heart muscle. Not all patients develop the same symptoms at the same time and the progression differs.

1/ What are the causes and signs?

The disease is due to the lack of an enzyme, acid alpha-glucosidase, responsible for transforming a sugar, glycogen (stored mainly in muscle cells and the liver), into another sugar, glucose, which is usable energy. by the muscles. Alpha-glucosidase carries out its function in lysosomes, components of the cell, responsible for the elimination and recycling of waste from the cell. Thus, its abnormal functioning leads to an accumulation of glycogen in the lysosomes, which is why Pompe disease is said to be a lysosomal “overload” disease.

In infants, the disease manifests itself in particular by difficulty holding the head, turning around, then sitting down. In adults, the disease is characterized by difficulty walking, climbing stairs or getting up from a chair. Fatigue or cramps can also be the first manifestations of the disease.

2/ how does the disease progress?

In the event of heart damage, the volume of the heart increases, which prevents it from functioning properly. This dysfunction progresses to heart failure and leads to other cardiac abnormalities such as heart rhythm disturbances with a risk of sudden death.

In adults, respiratory disorders often require assisted ventilation and respiratory failure is the leading cause of death. Furthermore, they can continue to move around without assistance for a long time but may need canes or a wheelchair after a certain time.

3/ Is there a treatment?

A treatment to replace the failing enzyme with an enzyme that works well (enzyme replacement therapy) is available in Morocco. It is used as a repeated infusion every two weeks to treat all forms of the disease. This enzyme replacement therapy allows a very significant improvement in the condition of approximately one in three infants, and probably a stabilization of the disease in the adult form. However, if this treatment is interrupted, the disease progresses again.

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A relatively recent treatment

Since the early 2000s, enzyme replacement therapy (ERT), Alglucosidase alfa (Myozyme), has made it possible to treat the causes, without curing the disease, by providing the body with the missing enzyme. It helps slow the progression of muscle weakness and improve muscle function. Without treatment for infants, death is rapid, usually within the first year. Medical data suggests that the sooner treatment is started after the first symptoms appear, the better the results. The progression of the disease can be slowed or stopped and further organ damage can be avoided, allowing many patients to lead almost normal lives. Other supportive treatments include: an adapted diet, respiratory therapies and ventilatory assistance; physiotherapy

4/The situation in Morocco

This pathology is unfortunately still very little known in Morocco and therefore poses a serious diagnostic problem, which can only give rise to severe mortality. The treatment is also very expensive, which has led the pharmaceutical industry to set up aid programs for this type of disease.

Dr. MOUSSAYER KHADIJA Dr. Khadija Musyar

Specialist in internal medicine and geriatrics

Specialist in internal medicine and geriatrics

President of the Alliance Maladies Rares Maroc, President of the Rare Diseases Coalition Morocco

President of the Moroccan Association of Autoimmune and Systemic Diseases (AMMAIS)

President of the Moroccan Society of Autoimmune and Systemic Diseases

Useful references:

– Pompe disease National Diagnostic and Care Protocol (PNDS) High Authority of Health (HAS) August 8, 2016

https://www.has-sante.fr/portail/upload/docs/application/pdf/2017-03/dir3/pnds_74_-_maladie_de_pompe_-_synthese_a_destination_du_medecin_traitant.pdf

– Living with Pompe disease- Sanofi April 13, 2018

https://www.sanofi.com/fr/nous-connaitre/solutions-de-sante/vivre-avec-la-maladie-de-pompe/

Annexes : A/ a very broad panorama of rare diseases – B/ orphan drugs – C/ The Alliance of Rare Diseases in Morocco.

A/ A very broad and sometimes confusing panorama of rare diseases

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These pathologies are of extremely diverse origin: genetic, infectious, cancerous, etc. or autoimmune. 3 out of 4 rare diseases start in childhood, but some wait 30, 40 or 50 years before appearing. ‘

They prevent you from: seeing (retinitis), breathing (cystic fibrosis), resisting infections (immune deficiencies), clotting the blood normally (hemophilia), growing and developing normal puberty (Turner syndrome: absence or abnormality in a girl of of the 2 female sex chromosomes

Others cause: accelerated aging (progeria, 100 cases worldwide); repeated fractures (brittle bone disease) ; a transformation of muscles into bones (stone man disease, 2,500 cases worldwide); anemia due to abnormal red blood cells (beta-thalassemia); cerebral sclerosis and progressive paralysis of all functions (leukodystrophy) … or even uncontrollable movements and intellectual weakening leading to dementia (Huntington’s disease).

B/ Orphan drugs, patients between hope and uncertainty

Drugs are called “orphan” when they are used specifically for rare diseases. The development of this type of medicine has been favored in developed countries by specific laws and regulations in favor of pharmaceutical laboratories, offering them faster access to the market, exempting them from certain taxes and guaranteeing them commercial exclusivity. for a certain number of years. In addition, clinical trials of new molecules have been simplified by authorizing these studies to be carried out on only ten or a hundred patients to prove the effectiveness of the product, whereas the marketing of a classic drug requires studies on thousands. of volunteers. Currently, nearly 500 of these therapies are available compared to 40 in 1983; the fact remains that only 1% of illnesses benefit from treatment.

C/ The Alliance of Rare Diseases in Morocco (AMRM)

In Europe, associations of patients suffering from rare diseases and patients without an association have united for several years in “Alliances”, such as France with the Rare Disease Alliance or Switzerland with Proraris. By joining forces, associations and patients can work together, speak with one voice and give more weight to their recommendations, their positions and their demands towards their interlocutors and partners, whether public authorities. , health professionals, health insurance systems and the pharmaceutical industry. Morocco followed these examples with the official formation of a Rare Disease Alliance in Morocco in 2017, from a grouping of associations.

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The Alliance’s mission is to raise awareness and recognition of rare diseases among the public, health professionals and public authorities by providing information on their scientific, health and social issues, by all means: written press, television, radio, sites internet and social networks.

THE ALLIANCE works on a daily basis with many Moroccan associations. She also signed “strategic” partnership agreements with 12 patient associations : 1/Rett Syndrome Association (AMSR), 2/Solidarity Association with the Children of the Moon in Morocco (ASELM), 3/Spinal Muscular Atrophy Association (SMA), 4/SOS Pku association, 5/association Moroccan Association for Hereditary Angioedema Patients (AMMAO), 6/ Moroccan Association for Child and Mother Health (AMSEM), 7/ SOS Marfantime Association (SOSM), 8/ Association Prader Willi Maroc (PWM), 9 / Flame of Hope Association for Autism and PKU Patients, 10/ Moroccan Association for children suffering from osteoporosis (Osteogenesis imperfecta) AMEOS, 11/ Moroccan Cystic Fibrosis Association (AMM), 12/ Fragile X Morocco Association (FxMa).

THE ALLIANCE OF RARE DISEASES IN MOROCCO finally organized “Rare Diseases Day” on February 24, 2024 in Casablanca. She did this in partnership with the Sanofi laboratories and the Moroccan Association of Medical Biology (AMBM). The main rare disease associations in Morocco were present during this event

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