Rare diseases (RD) aren’t rare collectively, affecting around 300 million people globally and 96 million in India. In low- and middle-income countries like India, policies addressing these diseases have only recently been enacted. In 2021, India launched its first functional RD policy. This study comprehensively maps all stakeholders in the RD ecosystem in India to understand their power positions, influence, and needs, thereby enabling better implementation strategies for the RD policy. We conducted in-depth interviews with various stakeholders to understand their perspectives and supplemented the study with media analysis to reach those who did not respond to interview invitations. Our findings suggest a lack of awareness and knowledge about RDs among healthcare professionals who do not specialize in RDs. Encouraging and formalizing the involvement of RD patient organizations in policy-making is crucial due to their high knowledge, interest, and constructive critical capabilities despite their low power. Another important stakeholder group, local companies, can drive innovation and make treatments accessible for RDs but have much lower power than multinational companies, potentially leading to policies that do not favor local needs.

The authors have declared no competing interest.

This study was funded by the DST/PRC/STI-PFP/2016 (IV Batch), dt:13.03.2020 DST STI Policy Fellowship awarded to MCC, Grant ID: DST/PRC/CPR/IISc-2023(G) (PCPM) Dt.31.03.2023. The time contributions of PNS were supported by a CRC grant from DBT/ Wellcome Trust India Alliance, Grant ID: IA/CRC/20/1/600007 dt 24-09-2021 Host institution Ref. No. 06/2021 The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Yes

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

The study received approval from the Institutional Ethics Committee of the Institute of Public Health for study number IEC-FR/01/2021 on 04/02/2021.

I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals.

Yes

I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

Yes

I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.

Yes

Excerpts of the transcripts relevant to the transcript can be made available upon request but participants have not conseted to quote them in publication.