Lysosomal Storage Disorders Support Society

Welcome to
Lysosomal Storage Disorders
Support Society (LSDSS)

The first pan-India support organization for LSD patients in India!

Our Lives Also Count!

About Us

Founded in 2010, the Lysosomal Storage Disorders Support Society (LSDSS) is a registered pan-India non-profit organization headquartered in New Delhi, India, and headed by a group of parents of LSD patients who know what it’s like to live with Lysosomal Storage Disorders.

Mission

LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.

 

VISION

Our vision is to ensure that every person in India suspected with a LSD will receive an accurate and timely diagnosis and that every person diagnosed with a treatable LSD will have access to the care and treatment he/she rightfully deserves.  

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LSDSS is the first and only pan-India registered not-for-profit society for LSDs, founded and being run by patients and parents voluntarily since 2010 and has been continuously creating awareness about these dreaded disorders amongst the public, physicians, and policymakers.

Over the years, LSDSS has achieved historic milestones towards creating treatment options for deserving and eligible patients through International Charitable Access Programs as well as through state healthcare budgets of different states in India.

Manjit Singh, Hon. President, LSDSS

Types of Lysosomal Storage Disorders

Lysosomal Storage Disorders (LSDs) are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies. Following are the most common LSDs found in India:

gaucher

Gaucher Disease

Gaucher disease is a rare genetic disorder caused by the deficiency of an enzyme wherein fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow, typically causing an enlarged abdomen.

pompe disease

Pompe Disease

Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body's cells. This disease is caused by the deficiency of acid alfa glucosidase (GAA) enzyme.

fabry2

Fabry Disease

The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs.

lysosomal storage disorder

MPS

In individuals with MPS, a deficiency or malfunction of specific enzymes leads to an abnormal accumulation of certain complex carbohydrates in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth.

Are you an LSD patient or caregiver?

Become a member of LSDSS now to get support and know the latest developments about your disease!

Important Update

The Government of India has notified the National Policy for Rare Diseases 2021 on 31st March 2021, through which it has identified eight Centers of Excellence (COE) across India and established a digital platform for crowdfunding and CSR donations for the treatment of rare disease patients. To know more about the policy, click here.

 

Patients/caregivers are advised to visit their nearest COE with all medical reports of the patient for evaluation and registration in the digital platform set up by the government.

Our Alliances

The LSDSS has partnered with several national and international organizations in its endeavor to further strengthen patient voice and improve awareness about LSDs.

Testimonials

The LSDSS is proud to be associated and working with the most prominent and well known genetic experts and clinicians all over India. Hear what they have to say about us!

LSDSS was our brain child and rechristened in 2006 at Sir Gangaram Hospital and was finally registered officially in 2010. It was the first such pan India voluntary society on Lysosomal Storage Disorders. Its office bearers who are mostly parents of patients have taken it to dizzy heights in the last 11 years. I congratulate Mr. Manjit Singh for his selfless services for the cause and his team for their devotion to spearhead awareness across India.

Dr. I. C. Verma

Senior Consultant and Advisor, Institute of Medical Genetics & Genomics, Sir Gangaram Hospital, New Delhi

What a historic journey by LSDSS in the last 11 years at pan India level. We are glad to be associated with LSDSS and be a part of its medical advisory group. Kudos to LSDSS team for achieving many a milestones. Keep it up!




Dr. Ratna Puri

Chairperson, Institute of Medical Genetics & Genomics, Sir Gangaram Hospital, New Delhi

We at Mediscan, Chennai are proud to be associated with LSDSS since 2010 (its inception). We have done hundreds of awareness programs on LSDs together in the last 11 years. We are glad and overwhelmed that the reputed and very humble Tamil Nadu cinestar Karthik Sivakumar is the South India Brand Ambassador of LSDSS since 2011 and has been not only creating awareness about rare diseases but has also been donating regularly to LSDSS. Wish LSDSS more success in future!

Dr. Sujatha Jagadeesh

Head, Dept. of Clinical Genetics, MediScan Hospital, Chennai

I am glad to be associated with LSDSS since 2010 since it’s inception and highly appreciate its voluntary office bearers for creating awareness of rare diseases, especially LSDs, at grassroots level. We have conducted many awareness programmes in collaboration, including International Rare Diseases Day and disease-specific programmes, at Maulana Azad Medical College. I wish all the best to LSDSS and its members for working holistically with the rare disease community.

Dr. A. P. Dubey

Professor of Pediatrics, ESI PGIMSR, New Delhi
Former Director Professor & Head of Dept. of Pediatrics, MAMC, New Delhi

We need your help!

Besides the expensive treatment, many LSD patients also need symptomatic and supportive care such as surgeries for the management of their condition. LSDSS strives to help such needy patients by providing them the required supportive and rehabilitative care and needs your help to make this possible.

All donations to LSDSS are exempt u/s 80G of the Indian Income Tax Act.

Frequently Asked Questions (FAQs)

Get answers to some of the frequently asked questions about LSDs!

Lysosomal storage disorders are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.

Lysosomal storage disorder symptoms vary depending on the type of disorder. One or more of these symptoms may occur:

              • Delay in intellectual and physical development
              • Seizures
              • Facial and other bone deformities
              • Joint stiffness and pain
              • Difficulty in breathing
              • Problems with vision and hearing
              • Anemia, nosebleeds, and easy bleeding or bruising
              • Swollen abdomen due to enlarged spleen or liver
              • Severe intellectual problems including mental retardation
              • Behavioral problems including aggressive behavior and hyperactivity

Physicians can detect lysosomal storage diseases either during pregnancy or in newborns and young children. In addition to a physical exam, some of the diagnostic methods include:

            • Testing for enzyme deficiencies in the blood, urine, and tissue
            • Prenatal genetic testing, including amniocentesis and chorionic villus sampling, in families with a history of a lysosomal storage disorder
            • Genetic screening to determine a person’s risk of passing a defective gene to future children

At present, there are approximately 600 known LSD patients in India. However, this number is only likely to be higher as many patients may be undiagnosed or misdiagnosed.

  • The treatment for LSDs falls under the “Orphan Drugs” category, which are medications for rare diseases that affect fewer than 5 in 10,000 people, according to the European Medicines Agency (EMA). As the research costs for making these drugs is very high and the market size is small, the cost for these drugs is very high.

The treatment for Gaucher Disease needs to be taken lifelong and is extremely expensive, costing anywhere from several lakhs to a few crore rupees per year. A few companies have been providing this treatment free of cost to some patients in India under charitable access programmes. However, at present, getting the treatment is very difficult as the companies are not accepting any more patients under charitable access. Nevertheless, you can get yourself/the patient enrolled on the charitable-access waiting list for Gaucher patients maintained by the International Gaucher Alliance (IGA) by filling up this form and sending it to tanya@gaucheralliance.org, with a copy to contactus@lsdssindia.org.

 

In addition, please get yourself/the patient enrolled on the Government of India’s portal for crowdfunding and CSR donations for rare diseases by meeting the doctor at your nearest COE with all medical reports for medical evaluation. You can find the details of your nearest COE here.

 

In addition, please register yourself with the LSDSS by completing this form to receive support and be informed about the latest developments about the disease.

The treatment for Pompe Disease needs to be taken lifelong and is extremely expensive, costing anywhere from several lakhs to a few crore rupees per year. A few companies have been providing this treatment free of cost to some patients in India under charitable access. However, at present, getting this treatment free of cost is very difficult as the companies are not accepting any more patients for charitable access. Please get yourself/the patient enrolled on the Government of India’s portal for crowdfunding and CSR donations for rare diseases by meeting the doctor at your nearest COE for medical evaluation. You can find the details of your nearest COE here. In addition, request the doctor to explore the possibility of getting charitable access to treatment by contacting these companies, and also get yourself registered with the LSDSS by completing this form.

The treatment for Fabry Disease needs to be taken lifelong and is extremely expensive, costing anywhere from several lakhs to a few crore rupees per year. A few companies have been providing this treatment free of cost to some patients in India under charitable access programmes. However, at present, getting this treatment is very difficult as the companies are not accepting any more patients under charitable access. We advise you to get yourself/the patient enrolled on Government of India’s portal for crowdfunding and CSR donations for rare diseases by meeting the doctor at your nearest COE with all medical reports for medical evaluation. You can find the details of your nearest COE here.

 

In addition, you may request the doctor to explore the possibility of getting charitable access to treatment by asking the doctor to contact these companies.

 

Also, please register yourself with the LSDSS by completing this form to get support and know the latest developments about the disease.

  • The treatment for MPS needs to be taken lifelong and is extremely expensive, costing anywhere from several lakhs to a few crore rupees per year. A few companies have been providing this treatment free of cost to some patients in India under charitable access. However, at present, getting this treatment free of cost is very difficult as the companies are not accepting any more patients for charitable access. Please get yourself/the patient enrolled on the Government of India’s portal for crowdfunding and CSR donations for rare diseases by meeting the doctor at your nearest COE for medical evaluation. You can find the details of your nearest COE here. In addition, request the doctor to explore the possibility of getting charitable access to treatment by contacting these companies, and also get yourself registered with the LSDSS by completing this form.

As LSDs are genetic in nature, there is no way to prevent them if you already have a faulty gene. However, prenatal screening and genetic counseling can help reduce the risk of LSDs in future births. Moreover, practices like consanguineous marriages (marrying within the family or blood relation) should be avoided to prevent genetic disorders. Newborn screening for lysosomal storage disorders can enable early diagnosis and can lead to earlier initiation of treatment.

Currently, there is no cure for any of the LSDs. However, for some LSDs, research is ongoing to provide treatment options such as gene therapy, which could offer a one-time cure in future.