Access routes for orphan and rare disease medicines

Rare diseases are individually uncommon but collectively large. World Health Assembly resolution WHA78.11, adopted in May 2025, notes that a rare disease is often described as affecting fewer than 1 in 2,000 people, that more than 7,000 rare diseases are known, that they affect more than 300 million people worldwide and that 70 percent start in childhood. Medicines for these conditions are often approved in only a handful of countries, so hospitals elsewhere depend on exception routes to reach them.

This guide separates two ideas that are often mixed up: orphan designation, which is an incentive for developers, and access routes, which decide how a hospital in a given country can obtain a medicine. It then describes each route, the order of steps and the practical limits that most often cause delays.

What makes a medicine an orphan medicine

Orphan status is granted by a regulator to encourage development for small patient groups. The thresholds and incentives differ by jurisdiction.

The EU rules are changing. In December 2025 Parliament and Council reached a provisional deal on a reform package that gives breakthrough orphan medicines, for diseases with no available treatment, up to eleven years of market exclusivity. Law firm summaries report that the standard orphan period falls from ten to nine years. Publication of the final texts in the Official Journal could not be confirmed at the time of writing, so check EUR-Lex for the adopted rules and their start dates.

None of these designations is an import permission. A medicine with US or EU orphan status still needs a local approval to enter Nigeria, Saudi Arabia, South Africa or any other country where it is not registered.

Why orphan medicines are often unregistered locally

Registration takes time and money, and small patient numbers make it hard for a developer to file in every country. A medicine may be approved in the US, the EU or India years before it is registered in a mid-sized market, and in some markets it may never be registered. WHA78.11 asks Member States to improve access to affordable treatment for rare diseases and asks WHO to prepare a ten-year global action plan for the World Health Assembly in 2028. WHO's 2026 update sets out consultations through 2027. Until national systems change, access in most countries depends on the routes below.

The main access routes

Named-patient and special access

This is the main route for orphan medicines that are approved somewhere but not locally. The UK supplies unlicensed medicines under MHRA notifications, South Africa under Section 21 and the Gulf states under the routes in the GCC guide. Saudi Arabia's Special Access Program names rare diseases explicitly and requires approval for the same indication, dose and route by a listed reference authority such as the FDA or EMA. The general model is in how named-patient supply works.

Expanded access and compassionate use

For orphan medicines still in development, the US FDA runs expanded access, where a physician asks the developer for a letter of authorisation and submits a request to the FDA. In the EU, compassionate use programmes are coordinated by Member States for groups of patients. The comparison guide explains how these differ from named-patient supply.

Early access schemes

The UK's Early Access to Medicines Scheme covers life-threatening or seriously debilitating conditions with high unmet need, and the applicant company supplies the product while its scientific opinion is valid.

Trials, post-trial access and donations

Trial sponsors supply investigational products and comparators under the trial approval, and some regulators, such as SAHPRA, run a separate post-trial access guideline. Donated medicines follow donation rules, for example NAFDAC's donation permit in Nigeria, where the recipient applies.

How a hospital usually approaches an orphan medicine request

1. Confirm the product and its status. The physician and pharmacist identify the exact product, strength and presentation, and check where it is approved and whether a trial or developer programme is open.
2. Choose the route. If the medicine is investigational, contact the developer about expanded access or a trial. If it is approved abroad, use the local named-patient or special access route.
3. Send a sourcing request. The hospital or licensed importer asks a supplier for availability, batch expiry, cold-chain needs and documents. See how to prepare a medicine sourcing request.
4. File the local application. The physician or importer applies with the clinical justification, product information and evidence of approval elsewhere.
5. Clear export controls. If the product is unapproved or new in India, the exporter needs a CDSCO export no objection certificate, covered in Indian export rules buyers should know.
6. Ship to the licensed consignee and record use. The hospital keeps records and reports adverse events under the local rules.

What the application usually needs

Requirements differ by country, but regulators tend to ask for the same core evidence, and preparing it early shortens the review:

• The treating physician's justification, including the diagnosis, earlier treatment and why no registered option is suitable
• Product information or prescribing information issued by the regulator that approved the medicine
• Evidence of approval status, for example the FDA or EMA approval where the route requires a reference authority
• GMP evidence for the manufacturing site and a certificate of analysis for the batch
• Witnessed informed consent where the route asks for it, as SAHPRA's guideline does in some cases
• The quantity requested and the treatment period it covers, which must fit the route's cap

The document checklist lists the items per destination.

Practical constraints

• Small batches and shelf life. Orphan medicines may be made in small batches, so the stock available at a given time can be short-dated. Qatar, for example, requires two thirds of shelf life on arrival unless an exemption is approved first. See shelf-life requirements in medicine supply.
• Cold chain. Some orphan medicines are biologics that need 2 to 8°C handling throughout transit and storage. The cold-chain transit checker compares packaging hold time with the lane.
• Quantity caps. A Section 21 named patient authorisation covers up to six months of treatment, and Dubai guidance caps facility imports at six months of expected use, so long treatments need repeat approvals.
• Patents and sponsors. SAHPRA's Section 21 guideline lets a patent holder object to supply of its patented unregistered medicine by another importer. For biologics, see biosimilars vs reference biologics in named-patient supply.
• Clinical need, not price. Special access routes exist for patients with no suitable registered option, and lower cost alone is not accepted as a reason.
• Shortages. When a registered orphan medicine is out of stock locally, some regulators accept that as a ground for import. See sourcing medicines during a shortage.