It can be distressing for parents to see their child suddenly walking with an imbalance, fearing it may indicate a serious health issue like Friedreich’s Ataxia (FRDA). FRDA is a rare, inherited disorder that affects the nervous system and muscles, oc­curring in about one in 50,000 people. Despite its rarity, there is hope for those affected, thanks to the efforts of Dr. Achal Srivastava, a renowned neurologist and profes­sor at AIIMS, New Delhi, who is raising awareness about this disease and working to have it recog­nized as a rare disease.

Dr. Srivastava has an impressive background with an MD and DM in Neurology, and he cur­rently leads Unit 3 in the Department of Neurol­ogy at AIIMS. With 255 indexed publications, 20 book chapters, and 140 indexed abstracts, his ex­pertise in movement dis­orders, especially ataxias and clinical neurophysi­ology, is well established. Over his career, he has received over 30 paper awards and multiple prestigious fellowships. He serves as the Treasur­er of the Indian Academy of Neurology and Sec­retary of both the Delhi Neurological Association and the Nerve Muscle Society.

Friedreich’s Ataxia (FRDA) is a debilitat­ing condition that poses significant challenges not only to the patients but also to their families. The early onset and pro­gressive nature of the dis­ease mean that children diagnosed with FRDA face a life that steadily becomes more restricted. The mutation in the FXN gene, responsible for producing the protein frataxin, leads to a cas­cade of health issues pri­marily affecting the nerv­ous system and muscles. Frataxin is crucial for the proper functioning of mitochondria, the en­ergy-producing parts of cells, and its deficiency results in the degenera­tion of nerve and muscle cells.

Dr. Achal Srivastava's work is particularly im­portant in a country like India, where awareness and resources for rare diseases are limited. His extensive research and clinical work have brought attention to FRDA and highlighted the need for it to be rec­ognized as a rare dis­ease. Such recognition is crucial as it can lead to better support systems, funding for research, and access to treatments.

One of the major hurdles in managing FRDA is the lack of accessible treat­ment options. The recent approval of Omavelox­olone in the U.S. and Europe marks a sig­nificant advancement in the treatment of FRDA. Omaveloxolone works by reducing oxidative stress and inflammation, there­by slowing the disease’s progression and improv­ing motor function in pa­tients.

However, the exorbitant cost of the drug and its unavailability in India create significant barri­ers. Dr. Srivastava and his team are advocat­ing for the inclusion of FRDA in the list of rare diseases recognized by the Indian government. This step could potential­ly facilitate the import and subsidization of nec­essary medications, mak­ing them more accessible to patients.

DTMT: Please tell us something about FRDA.

Dr. Srivastava: Friedre­ich’s Ataxia (FRDA) is a rare, inherited disorder affecting the nervous system and muscles. It typically begins between the ages of five and fif­teen and progresses from body imbalance to muscle weakness, often leading to wheelchair dependence and eventu­ally becoming bedridden. Some patients also de­velop heart disease.

DTMT: What are the causes of FRDA?

Dr. Srivastava: FRDA is caused by mutations in the FXN gene, leading to reduced levels of the protein frataxin. This de­ficiency causes nerve and muscle cell degeneration, resulting in progressively worsening symptoms. Most individuals eventu­ally require a wheelchair and may face life-threat­ening complications like cardiomyopathy and dia­betes.

DTMT: Can you tell us about your collabora­tion with the Friedre­ich’s Ataxia Research Alliance, USA?

Dr. Srivastava: The I have had the honour of working at AIIMS with the Friedreich's Atax­ia Research Alliance (FARA), a well-known advocacy organisation with its headquarters in the United States that is heavily active in support­ing research for this dif­ficult condition. A key­stone of my work, this partnership has made possible a priceless worldwide sharing of in­formation and resources. Because it unites several viewpoints and areas of knowledge that can result in ground-breaking find­ings, such international collaboration is essential for progressing research.

Together, we have ef­fectively enrolled al­most 150 patients in our AIIMS research. With this large group, we may investigate different ther­apy modalities and track the development of Frie­dreich's ataxia in detail. The path of every patient adds important informa­tion that improves our knowledge of the illness and enables us to see trends and possible treat­ments that may not be seen in smaller studies.

DTMT: What is your role in this initiative?

Dr. Srivastava: I have been researching and working on FRDA for the last 20 to 25 years. My initiative focuses on providing advantages to patients, enhancing their productivity, and pro­moting further research on FRDA, particularly regarding drug effective­ness and genetic factors.

DTMT: How many pa­tients have you seen with this disease so far?

Dr. Srivastava: We have seen a total of 150 FRDA patients at AIIMS, which underscores its rarity.

DTMT: What do you say about the quality of life for patients suffer­ing from this disease?

Dr. Srivastava: Initially, patients may not have significant issues, but the disease progresses between five and fifteen years of age. They even­tually become wheel­chair-bound and bedrid­den, depending on the genetic load (GAA) of the disease.

DTMT: What are the available treatment and diagnostic options for FRDA?

Dr. Srivastava: FRDA is first diagnosed through clinical evaluation and genetic testing. Currently, a drug called Omavelox­olone (Omav) has been approved in the U.S. and Europe, but it is not avail­able in India. The cost of this drug is prohibitively expensive, around Rs 32 lakh per month, making it inaccessible for most patients in India. We are working to have FRDA classified as a rare dis­ease to facilitate better access to treatment.

DTMT: When should parents be alert about this disease?

Dr. Srivastava: Par­ents should be vigilant if there is a family his­tory of the disease. Early signs include imbalance while walking, and they should consult a neurolo­gist immediately if such symptoms appear.

The quality of life for FRDA patients is a sig­nificant matter of concern that needs to be resolved.