Press Release on 4th Pompe Day
- Patient families to raise fund research to save their children.
- 4th Pompe Awareness day
- Parent groups raise funds for gene therapy research
- No Govt support for rare disease patients
- Pompe, a rare disease, hopes to be heard
New Beginning: For the first time in India, rare disease patient families are leading the way for funding research and development on gene therapy with hope to save their children. With no help from government or supporting healthcare policies for diseases like Pompe and Neimann-Pick, the parents of children suffering with these rare diseases have come together to fund research. Although this initiative is new in India, the European Organization for rare disease (EURORDIS) which was founded in 1997 has been actively supporting research and drug development besides raising awareness. Similarly, in United States of America not-for-profit organizations like Hannah’s Hope Fund (HHF) and National Tay-Sachs and Allied Diseases Assocation (NTSAD) have funded for gene therapy research in the recent years.
In 2011, Prasanna Shirol, father of Nidhi, India’s first officially recorded Pompe patient started the initiative of observing June 1 as Pompe Day. This was done to promote awareness about this disease and to urge the Govt to support rare disease treatment. Pompe foundation (www.pompeindia.org) supports parents and patients of Pompe disease by easing their burden by supporting them in securing timely diagnosis, consultations, treatments, and other therapeutic measures.
Over the years, in spite of repeated request letters to various Govt departments and Health Minister offices have brought no relief. Today, on the occasion of 4th Pompe day, Pompe foundation and Neimann-Pick foundation (withaarya) announced their support to Aten Biotherapeutics to help raise funds for gene therapy for Pompe and Neimann-Pick disease.
About Pompe: Pompe disease is a progressively debilitating rare metabolic disorder which causes muscle and nerve damage throughout the body. Deficiency or absence of an enzyme leads to build-up of glycogen in various body tissues such as heart, liver, etc. Existing therapeutic options for Pompe patients include enzyme replacement therapy which is very expensive and also painful and cumbersome for the patients due to the need for repeated intrathecal administrations.
About Niemann Pick :Niemann-Pick Type C Disorder is a rare lysosomal storage disorder caused by genetic mutation. NPC is characterised by over-accumulation of cholesterol in the lysosomes of cells which in turn leads to various clinical symptoms such as progressive nerve degeneration, enlargement of spleen and liver, and usually fatality at an early age. There is no treatment currently for NPC while several studies aim to develop a therapeutic for this fatal and debilitating disease.
Dr Meenakshi Bhat, Consultant in Clinical Genetics, Centre for Human Genetics, said: “It is imperative to create awareness about Pompe Disease, a rare but debilitating medical condition. Low awareness, even among medical practitioners, is the main cause of delay in diagnosis and treatment. Even when the diagnosis is made, there are very few sources of funding to treat a patient. Treatment is expensive and the help of the government is required in treating these patients and also to fund research in newer, better and locally available therapies. As the numbers of patients with Pompe disease are small, we appeal to the government to help in financing the treatment of these children so that no eligible child is denied life-saving treatment.
Dr. Aditya from Aten Biotherapeutics said: “Aten is developing new therapeutics for Pompe based on gene therapy and Neimann-Pick based on nanotechnology. These new therapeutics are artificial viruses that can introduce the gene into the patient’s body which can produce the missing enzyme, hence resulting in alleviation of the diseased state and providing relief to the patients. Current treatments being developed for these diseases require repeated intrathecal administrations of the drug/therapy which is painful. Aten plans to develop a therapeutic that can be administered intravenously to the patient thereby increasing patient compliance significantly and improve their quality of life. Aten’s mission is to bring affordable therapy to rare disease patients in India and also improve their quality of life and living standards significantly.”
Mr. Prasanna Shirol founder of Pompe foundation said: “ There are many challenges like diagnosing, costly treatment and supportive care. In the absence of Govt health care policies it is difficult for parents to meet the medical challenges of these children making them feel helpless.
Secondly “The support of Govt is critical to the success of health initiatives such as the one we are proposing for Pompe and other rare diseases. An active role by the Govt in addressing the enormous health care challenges such as ease of conducting clinical trails, public funding for research in rare disease, creating business friendly policies for pharmaceutical and biotech companies would go a long way in giving hope to these patients and their families.”
Prasanna Shirol also serves as a founder member of the Organization for Rare Diseases in India (ORDI) and is former founder President of LSD Support Society (Lysosomal Storage Disorder Support Society). This society initiated observing International Rare Disease day for the first time in India on a national scale under his leadership. He has worked extensively to create awareness on LSD and Rare disease in India. He has represented India in various conferences and meetings internationally and has developed a strong network of international Parent and Rare disease groups.
Mrs. Shital Bhatkar founder of withaarya, (Neimann-Pick foundation) wants to raise awareness and funds for the research and cure of Niemann-Pick disorder.
Finally, these common people have turned heroes fighting for a greater cause because of their children and urge others to join them in this movement. To support this initiative and to know more details kindly visit www.pompeindia.org or contact Mr. Prasanna.
Prasanna Shirol, President Pompe Foundation and Founder Member ORDI (Organization for Rare Disease and Parents
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