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Turkey also takes place among the countries where rare diseases due to genetic reasons are mostly seen. Due to the fact that one of each 5 marriages is still a consanguineous marriage, many inherited and recessively transmitted rare diseases are seen in our country more frequently than Europe and USA. It is estimated that approximately 6-7 million people in our country have rare diseases. In the absence of treatment, Rare Diseases can end up with chronic, progressive and life-threatening situation if early diagnosis and treatment is not performed.

 

In most cases, rare diseases develop a highly complex clinical picture. The only common ground they have is the chronic progression. Symptoms generally appear in childhood and they are seldom curable with drugs defined as "orphans" due to the presence of a genetic damage at a ratio of 80%.

 

 

Chiesi in Rare Diseases

 

Cystic Fibrosis

Cystic fibrosis (CF) is a hereditary (familial inherited) disease. Since birth, it affects the secretory glands of many organs, leading to functional disorders. Lungs, pancreas, liver, intestines, sinuses and reproductive organs are often affected by the disease. Normally, the secretion of exocrine glands is water-rich and fluid; this feature allows the organ systems to function normally. Because of the disorder in the gene which responsible for KF disease.

The secretions are anhydrous in patients with KF; it has stiffened, thickened and lost the fluidity. This anomalous secretion accumulates in the airways in the lungs, causing bacterial growth, recurrent lung infections and progressive lung damage. The secretions of liver and pancreas are also darkened; while these dark secretions clog the organ channels and cause damage, on the other hand, since the secretions do not reach the gut, foods eaten cannot be digested and made useful to the body. As a result diarrhea (abundant, oily and foul-smelling), gas and bloating in the abdomen, weight loss, vitamin deficiencies and growth-retardation growth and developmental delay develop. Sweat glands are also affected by KF. Patients' perspiration is quite salty. Especially in hot weather, sweat increases salt and water loss; lack of water and salt symptoms can be seen in patients.

 

Limbal stem cell deficiency (LSCD)

 

Stem cells are the main cells that forms all the tissues and organs in our bodies. Limbal stem cells are found at the transition zone between the cornea (the front part of the eye) and the sclera. These cells provide continuous regeneration of the corneal epithelium. Around 3.3 in 100,000 people in the EU are affected by LSCD. This number is estimated higher in our country.

 

Ocular surface disorder can occur for many reasons. These include situations that can lead to limbal stem cell failure such as chemical / thermal burns, Stevens-Johnson syndrome, trauma, multiple ocular surgical procedures, cryotherapy, contact lens use and keratitis. Due to these reasons, it is often unsuccessful to correct the visual loss that occurs in the serious ocular surface diseases developing in the eye, with only corneal transplantation. The continuation of the cornea's transparency can only be achieved with a functional limbal-conjunctival tissue.

 

Chiesi's stem cell product, developed in limbal stem cell deficiency is the first advanced medical treatment product approved by the authority that is recommended / suggested by the European Medicines Agency (EMA) in the case of moderate to severe limbal stem cell deficiency (LSCD), resulting from physical or chemical burns in adults eye(s).

 

Alpha-Mannosidosis

 

Alpha-mannosidosis is a very rarely seen lysosomal storage disorder characterized by immunodeficiency, facial and skeletal system anomalies, hearing impairment and cognitive impairment. The disorder is caused by lack of lysosomal alpha-mannosidosis. Alpha-mannosidosis inherits autosomal recessive inheritance and is caused by mutations in the MAN2B1 gene on chromosome 19.

 

It is seen in approximately 1 in every 500,000 live births. Consanguineous marriages are the most important risk factor. Babies are often born with a normal appearance, but over time their condition worsens progressively. In some children, the development of congenital Equinus  (distortion of the back of the foot to the soles of the feet) or the first year of life is the development of hydrocephaly (accumulation of brain fluid in the spaces of brain tissue, and this causes to increase of the pressure in the head) in some children. 

 

The main symptoms of the disease are:

* Immune deficiency (especially with recurrent infections in the first 10 years of life),

* Skeletal anomalies,

* Hearing impairment (sensorineural hearing loss in moderate to severe hearing),

* Slowdown of mental functions and speech,

* Psychosis episodes.

 

Deteriorations in motor functions accompanying these features include muscle weakness, joint anomalies and loss of coordination in the limbs.

Facial features include large head, round eyebrows, flattening of the nose arch, large tongue, wide spaced teeth, and prognatism (leading the lower jaw) with the forehead protruding from the forehead. Slight strabismus is often.

 

 

TREATMENTS

 

Cystic Fibrosis Treatment

The organ that affects the quality of life in CF is the lungs and the nutritional status of the patient is also very important. For this reason, the aim of treatment is to decrease the lung damage to the minimum and to increase the life quality of the patient and prolong the life span by regulating the nutrition. The treatment will continue lifelong.

In the lungs, where the involment are mainly seen, the muscous plugs formed due to the  inadequate amount of air in the airways disrupt the mucociliary clearence/cleansing mechanism; plugs resulting from accumulation of sputum in lungs with loss of pulse motility multiple bacterial colonization (such as Pseudomonas aeruginosa, S. Aureus) causes chronic infections, impaired respiratory function. Therefore, in treatment, 7% Hypertonic Saline provides hydration/irritation in the sputum, which lost water, by creating osmotic changes to reduce the sputum consistency and it provides the sputum being cleaned from the lungs by increasing the humidity on the surface of lung airway.

Chiesi has presented a treatment agent to the country that provides hydration wih a /5 hypertonic saline solution, which is supported with 0.1 % Hyaluronate to enhance lung retention, in this way osmotic treatment of the mucus excretion through nebulization to the lungs.

 

 

 

Alpha-Mannosidosis Deficiency Treatment

Treatment of this very rare disease, in which mannose-rich oligosaccharides accumulate in the brain, liver and urine, resulting in lack of alpha-mannosidosis enzyme, is now based on the following principles:

  • Special Education and Rehabilitation Support
  • Head Circumference Follow-up
  • Orthopedic Surgical Procedures (For complications in the bones)
  • Repetitive Otitis Media and Follow-Up in terms of Hearing Loss
  • Bone Marrow Transplantation (In the first 10 years of life, it can be an option before the disease progresses).

Chiesi entered into the industry of ultra-rare diseases in 2013 by acquiring Zymenex, which develops biotechnologic products for Alpha-Mannodisodis treatment. The aim of this initiative for the treatment of alpha-mannosidosis is to present the recombinant protein velmanase-alpha, called as an orphan drug, which provides the body with the alpha-mannosidosis enzyme, which is missing in the body for a long time, to the treatment of very rare cases.

 

Limbal Stem Cell Deficiency (LSCD) Treatment

Developments in science and technology in the world are accelareting the development of more effective and safe approaches to the treatment of disease more effectively (for example, prevention of loss of function in the eye), repair of damaged tissues and organs in the body.

In this framework, regenerative medicine and stem cell technologies have great potential to be implemented and their application is becoming increasingly widespread. The World Health Organization (WHO) recognizes the production of human-induced medical products as an important global task.

Nowadays, autologous human corneal transplantation containing a cultured stem cell, which uses a very small limbal tissue in the treatment of LSCD, reduces both the risk of LSCD formation in the donor eye and has the potential to recur if needed and also it is a disease-promising treatment option.

An advanced treatment product which was developed by Chiesi in collaboration with Holostem TA S.R.L based on the transplantation of the living tissue equivalent to the damaged eye by resecting corneal epithelium was approved by the European Medicines Agency (EMA) in 2015 and has been helping to re-gain eyesight in this group of patients even if only limited section of undamaged sight of the extensively damaged sight exists.