The rare disease clinical trial landscape
There are over 7,000 rare diseases affecting 300 million people worldwide, yet the majority have no approved treatment. The rare disease clinical trial space has exploded in recent years, driven by gene therapy advances, FDA orphan drug incentives, and growing investment from both large pharma and specialist biotechs.
For rare disease professionals, staying current with the trial landscape is critical and uniquely difficult. Conditions are highly specific, trials are small, and the difference between a recruiting trial and a completed one matters enormously to patients who may have exhausted other options.
Track your rare disease area automatically
Set your condition keywords once. Get new and updated trials every morning.
Start FreeA primary completion date pushed out, enrollment cut, or a primary endpoint changed in the last 90 days. Active trials only.
| Trial | Warning signs | Status |
|---|---|---|
| DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic… NCT05913843 | Primary completion moved at least 2 years 9 months later | Recruiting |
5 more on the Trials at Risk page. See which trials →
Phase 2 and Phase 3 trials with a primary completion date in the next 180 days, as ClinicalTrials.gov estimates it today. Active trials only.
| Trial | Scheduled | Phase |
|---|---|---|
| Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus… NCT06721871 | Dec 2026 · Estimated | Phase 2/3 |
This is the only one due in that window. See the calendar →
Use cases for rare disease trial monitoring
Patient advocacy organizations
Disease foundations and patient groups play a critical role in connecting patients to clinical trial opportunities. When a new recruiting trial opens for Duchenne muscular dystrophy, Pompe disease, or a rare metabolic disorder, advocacy organizations need to know immediately so they can alert their communities.
Rare disease biotech companies
Companies developing orphan drugs need to know when competitors register new programs in their target indication. A new Phase 2 gene therapy for the same condition changes the competitive landscape and may affect licensing strategy, partnership discussions, and investor messaging.
Academic medical center specialists
Rare disease specialists at academic centers refer patients to clinical trials. Knowing what's currently recruiting, and when status changes, directly affects patient care decisions.
Example rare disease profiles to track
- Spinal muscular atrophy (SMA): gene therapy and antisense oligonucleotide programs
- Duchenne muscular dystrophy (DMD): exon-skipping and micro-dystrophin programs
- Cystic fibrosis. CFTR modulator combinations beyond approved therapies
- Sickle cell disease and beta thalassemia, gene editing and gene therapy
- Lysosomal storage disorders, enzyme replacement and substrate reduction therapies
- Rare neurological conditions. CLN disease, Rett syndrome, Angelman syndrome
Track rare disease trials
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Start Free62 active trials, 44 recruiting.
Industry sponsors run 4 of these trials. The rest are run by universities, hospitals, government bodies and other non-commercial sponsors. The table below lists all 4 of them.
| Top industry sponsor | Active trials |
|---|---|
| AstraZeneca | 1 |
| Munich Leukemia Laboratory | 1 |
| Napo Pharmaceuticals, Inc. | 1 |
| Sanguine Biosciences | 1 |
| Trial | Status | Latest tracked change | Seen |
|---|---|---|---|
| Solving Riddles Through Sequencing NCT05046444 | Recruiting | Completion pushed from Oct 1, 2026 to Oct 1, 2027 | 2026-10-10 |
| The Mayo Clinic Rare and Undiagnosed Disease Hackathon NCT07714161 | Enrolling by Invitation | Enrolling by invitation only | 2026-10-02 |
| DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic… NCT05913843 | Recruiting | Completion pushed from Jun 30, 2026 to Mar 31, 2029 | 2026-09-22 |
| Longitudinal Studies of Patient With FPDMM NCT03854318 | Recruiting | Completion pushed from Dec 31, 2028 to Dec 31, 2099 | 2026-09-12 |
| ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With… NCT06782230 | Recruiting | Completion pushed from Aug 30, 2026 to Mar 1, 2027 | 2026-08-28 |
Each trial page shows every change DataLookout has recorded for that trial.
DataLookout checks ClinicalTrials.gov every day and records what changed on each trial: status, enrollment, phase, primary endpoint, completion dates, sites, sponsor, and the stated reason a trial stopped. Add a sponsor or a disease to your watchlist, or save any search, and the changes arrive in a daily or weekly email digest.
Free, $0 forever: 1 sponsor + 1 disease watchlist, 1 saved search in your email digest, track up to 5 individual trials, daily change detection, Trials at Risk (top 2 trials), the weekly report (top 3 trials). No credit card.
Pro, $49/month or $490/year: 10 sponsor + 10 disease watchlists, 10 saved searches in your email digest, track up to 25 individual trials, full Trials at Risk list, Completions calendar, the full weekly report, landscape reports, CSV export.