Finding clinical trials for rare disease.

A search for "Ehlers-Danlos Syndrome" on ClinicalTrials.gov returns over 200 results. A search for "POTS" returns over 300. The results include completed trials, trials at sites in other countries, trials you'd never qualify for, and trials studying aspects of your condition irrelevant to your situation — all mixed together with no ranking or filtering for patient relevance.

The eligibility criteria are written in clinical language for physicians to evaluate, not in plain language for patients. An exclusion criterion like "prior treatment with any JAK inhibitor within 12 weeks" requires knowing what a JAK inhibitor is and whether your medications qualify.

None of this means you can't find trials — it means you need to know how to search.

Start with the condition search bar and filter immediately by Status: Recruiting. This removes completed, terminated, and not-yet-open trials. Then filter by Age to narrow to your age group. Then filter by Country if you need trials in the US specifically.

Use the condition's clinical synonyms, not just the common name. EDS is also listed under "Ehlers Danlos," "hypermobility spectrum disorder," and specific subtypes like "hEDS." POTS may be listed as "postural orthostatic tachycardia syndrome," "dysautonomia," or "orthostatic intolerance." MCAS may appear as "mast cell activation syndrome," "mast cell activation disorder," or the broader "mastocytosis." Search multiple terms and cross-reference results.

For rare diseases, also search by the treatments being studied — if there's a medication or therapy you're interested in, search for that directly. Trials studying a specific treatment often enroll patients across multiple rare disease diagnoses that share a mechanism.

Every trial has two types of criteria: inclusion criteria (conditions you must meet to qualify) and exclusion criteria (conditions that disqualify you). Read both carefully.

Inclusion criteria typically require: a confirmed diagnosis of the target condition, an age range, specific disease characteristics (e.g. "documented POTS diagnosis confirmed by tilt table test or NASA lean test"), and sometimes a minimum disease duration.

Exclusion criteria typically disqualify: pregnancy, certain concurrent medications, other active serious conditions, and sometimes recent participation in other clinical trials. They often also exclude patients with conditions that could confound the results or create safety risks.

If you're unsure whether you meet a criterion, contact the trial coordinator and ask directly. Eligibility is ultimately a clinical determination made by the trial's medical staff — not a checkbox you evaluate yourself.

For EDS, the majority of current trials are observational (natural history studies) or studying physical therapy and pain management approaches. Drug trials for hEDS specifically are limited, though there are trials studying conditions that commonly co-occur with EDS — POTS, MCAS, and chronic pain — that EDS patients may qualify for. The Ehlers-Danlos Society research page maintains a current list of EDS-specific studies.

For POTS, the trial landscape has expanded significantly since 2020. There are active trials studying beta blockers, ivabradine, norepinephrine reuptake inhibitors, and exercise protocols. The Dysautonomia International research map is an excellent supplementary resource for current POTS trials beyond what ClinicalTrials.gov surfaces.

For MCAS, trials are often listed under broader mast cell disease categories including systemic mastocytosis. The Mastocytosis Society maintains trial lists that cross-reference ClinicalTrials.gov for mast cell conditions specifically.

Contact the trial site using the contact information listed on the trial's ClinicalTrials.gov page — there's usually a specific trial coordinator listed. Email is usually more effective than phone for initial contact because it gives the coordinator time to review your question.

In your initial contact, include: your diagnosis and how it was confirmed, your age, your geographic location or willingness to travel, any specific eligibility concerns you have, and a question about next steps in the screening process.

You will typically go through a pre-screening conversation, then a formal screening visit (which may involve tests to confirm eligibility), then enrollment if you qualify. Screening visits are usually covered by the trial.

Always tell your treating physician before enrolling in any clinical trial. They need to know for your safety and to coordinate your care.

If you don't qualify for any open trial but are interested in an experimental treatment, ask your doctor about expanded access (also called compassionate use). This is a pathway for patients with serious conditions to access experimental treatments outside of a clinical trial when no other options exist.

Expanded access requires FDA authorization and manufacturer agreement — it's not guaranteed, but it's worth asking about. The FDA expanded access guidance explains the process in detail, including how your doctor submits a request and what the typical timelines look like.

For rare disease patients specifically, NORD maintains resources on accessing experimental treatments and can help identify patient advocacy contacts at specific pharmaceutical companies.