A Global Perspective is Crucial to Improve Rare Disease Care, Part 1



The baby died almost immediately after birth. Edwards Syndrome is a rare congenital disease. Only about ten percent of newborn babies survive past their first year. Babies are classified as “nonviable” if they deliver in less than 28 weeks.

Dr. Harsha Rajasimha spoke with Genetic Engineering & Biotechnology News explaining that the death of their baby gave him an entirely new perspective and understanding of the difficulty families must face when seeking an accurate diagnosis.

He readily admits that his background of published journal articles and other accomplishments did not equip him to help his baby. It did, however, cause him to change the course of his career.

Thinking Globally

Dr. Harsha founded IndoUShare as a result of his interactions with patients and their families, other researchers, and patient advocates in India and the US. IndoUShare opened its doors in 2019 as a 501C3 nonprofit based in Northern Virginia.

The company is on a mission to expedite rare disease therapies by bridging efforts between the U.S. and India. To date, efforts have been negatively affected by restricted cross-border collaborations between governments, scientists and biotech companies.

Dr. Rajasimha points out that restrictions in cross-border interaction between countries have resulted in a longstanding divide. He maintains that the problem must be approached on a global basis.

Rare Disease Worldwide

The doctor was well aware that of approximately 350 million people worldwide who have a rare disease, less than 10% have any type of approved treatment available to them.

India’s subcontinent has almost twenty-five percent of the world’s population with estimates of seventy million rare disease patients. Yet less than two percent of clinical trials report participation by people from the Indian subcontinent.

The Cost Factor

Cost is a factor for drugs that are approved and available. At the high end, for instance, the drug Hemgenix is indicated for hemophilia B. The drug has a cost of $3.5 million per dose.

Dr. Rajasimha maintains that encouraging Indian patient involvement during early research and development would improve patient recruitment, thereby reducing the cost of drug development.

Drug prices are further reduced in India through partial reimbursement to drug manufacturers by the government and grants for treatment paid to rare disease patients.

The doctor has advocated for over ten years for a national policy in India. His efforts were rewarded recently by a $60,000 USD government grant to each patient towards the treatment of their rare disease.

Dr. Rajasimha explained that the patient population participating in orphan drug trials is generally an important factor in the price of the drug being investigated. The market determines the price of a drug. A large patient population will reduce the cost.

Orphan status in the U.S. pertains to drugs and biologics intended to treat or prevent rare diseases affecting less than 200,000 people.

At the same time he established IndoUShare, Dr. Rajasimha co-founded ORDI, the Organization for Rare Diseases India. He advocated for a policy comparable to the Orphan Drug Act in the U.S. These organizations offer financial arrangements that incentivize companies in the development of drugs for rare diseases.

Three Major Suggestions

Patti Engel, CEO of EngageHealth, a marketing research company for rare diseases, is collaborating with IndoShare in India, the U.S., and China to facilitate participation in clinical research by patients and their families.

Ms. Engel offered three actions: insurance coverage, accessible genetic tests, and heightened awareness.

  • Insurance coverage helps patients gain access to drugs they would ordinarily find unaffordable.
  • Accessible genetic tests, whether they be free or low cost would result in a quicker diagnosis, thus eliminating the need to many analyze other conditions.
  • By increasing awareness of rare diseases, clinicians are better able to recognize symptoms and conduct a diagnosis

Recruiting Indian Patients in U.S. Clinical Trials

The development of patient registries is essential in clinical development programs for rare disease treatment. The data is generally obtained from public databases created by the NIH or patient advocacy foundations.

IndoUShare provides awareness programs throughout India informing patient advocacy groups that although there is a need to develop global registries, approximately ninety percent of patient registries remain Europe-centric and Caucasian,

One barrier in retaining rare disease patients worldwide for clinical trials in Europe and the U.S. is language. Online information about clinical trials is usually provided in English. Dr. Rajasimha says that in order to generate awareness in urban and rural populations in India information must be available in local Indian languages.

Additional details about clinical trial software, data sharing, and registries follow in PART II.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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