Commitment to
Rare Disease

Commitment to rare disease

Rare diseases are diseases affecting a small number of people with a prevalence of less than a certain threshold, codified by the legislation of each individual Country. The European Union considers diseases to be rare when they affect not more than 5 per 10.000 persons. An ultrarare disease is one that affects not more than 1 person per 10.000 inhabitants.

Rare diseases generate specific problems directly linked to their rarity: such problems are serious, often chronic and sometimes progressive, they can also occur from the birth or childhood. The fact that such a small number of people have these symptoms makes extremely difficult to have statistical analysis on their occurrence or on the best solution for symptoms relief.

All people with rare diseases face everyday difficulties in reaching the correct diagnosis, in obtaining information, in being oriented towards the correct and competent professionals. Access to quality care, social and medical treatment for the disease, coordination between hospital and home care, autonomy and social, professional and civic integration is equally problematic. For all these reasons this therapeutic area is of great relevance and social impact. Patients affected by rare diseases have the same rights to care as any other patient, therefore authorities started the implementation of policies on orphan drugs.

The so-called ORPHAN DRUGS are those products or even a specific indication of a product intended to treat diseases so rare that sponsors are reluctant to develop them under usual marketing conditions.

This is due to the fact that the process to obtain the authorization for a new drug, from the discovery of a new molecule to the launch in the market, is long (about 10 years), expensive and quite uncertain (from the outcome of clinical and pre-clinical studies it might be found that only 1 in 10 tested molecules has the therapeutic effect).

The development of a drug aimed to treat a rare disease does not allow the recovery of the investments for its research.

However, sometimes, drugs or a specific indication of a drug for rare diseases are developed by the pharmaceutical industries not for economic reasons, but for answering to an unmet public health need

Cystic Fibrosis

Cystic Fibrosis (CF) is a genetic disorder affecting the cells that produce mucus, sweat and digestive juices. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas creating an ideal environment for bacterial proliferation  and therefore causes persistent lung infections and limits the ability to breathe over time. It is the most common lethal genetic disease in the white population, caused by mutations in a gene encoding the CF Transmembrane Conductance Regulator (CFTR), a protein functioning mainly as chloride channel.  People with CF have inherited two copies of the defective CF gene, one from each parent. Both parents must have at least one copy of the defective gene. The incidence varies between populations and the exact prevalence in EU is unknown, but estimates range between 1/8,000 and 1/10,000 individuals.

This disease is chronic and generally progressive, with onset usually occurring during early childhood. The main symptoms includes:

  • Very salty-tasting skin
  • Frequent lung infections including pneumonia or bronchitis
  • Persistent coughing and Wheezing or shortness of breath
  • Poor growth or weight gain in spite of a good appetite
  • Frequent greasy, bulky stools or difficulty with bowel movements
  • Male infertility

Although CF is progressive and requires daily care, people with CF are usually able to live their lives. Treatment of CF remains purely symptomatic but the QoL of patients with CF has improved in the last decades. Improvements in screening and treatments allow people with CF to have a current average life-span exceeding 35 years and life-expectancy is 40 years.

GB Pharma as sponsor of orphan designation

Driven by the REPURPOSING OF DRUGS model, GB Pharma S.r.l. is developing, for the treatment of cystic fibrosis, a new product starting from the product for which is MAH.

Thanks to the expertise of the GB Pharma Group, preclinical studies have been performed which showed how our product increases the activity of a protein called calcium-dependent chloride channel (CaCC) which is also involved in regulating the production of mucus and digestive juices. This makes abnormal secretions more fluid in CF, reducing the symptoms of the disease and improving lung function. These experiments have also shown that the effect of Tamoxifen is long-term and quantitatively significant and bypasses the CFTR defect, thus becoming a treatment independent from the mutation. GB Pharma S.r.l. as SPONSOR has already received an ORPHAN DESIGNATION on 22 May 2017 from the EMA in the treatment of CF. GB Pharma S.r.l. is now studying new pre-clinical and clinical trials in some European sites, to further evaluate the behaviour and all the possibilities linked to this molecule.

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