Rare Disease Clinical Trials

Connect with groundbreaking research for over 7,000 rare diseases. Access gene therapies, orphan drugs, and innovative treatments offering new hope.

3,200+ Active Trials400+ ConditionsGene & Cell Therapies
⚡ FDA Fast Track Designations

Breakthrough Therapies Now Recruiting

CRISPR Gene Editing

Sickle cell, beta-thalassemia, Leber congenital amaurosis

AAV Gene Therapy

Duchenne MD, SMA, hemophilia

RNA Therapeutics

Huntington's, ALS, rare epilepsies

Browse Trials by Disease Category

Blood Disorders

Hematologic Conditions

  • • Sickle Cell Disease
  • • Beta Thalassemia
  • • Hemophilia A & B
  • • Von Willebrand Disease
View 280+ Trials →
Neurological

Rare Neurological Diseases

  • • ALS (Lou Gehrig's)
  • • Huntington's Disease
  • • Spinal Muscular Atrophy
  • • Friedreich's Ataxia
View 420+ Trials →
Genetic

Genetic & Metabolic

  • • Cystic Fibrosis
  • • Gaucher Disease
  • • Fabry Disease
  • • PKU
View 350+ Trials →
Muscular

Neuromuscular Disorders

  • • Duchenne MD
  • • Becker MD
  • • Myasthenia Gravis
  • • Pompe Disease
View 180+ Trials →
Immunologic

Primary Immunodeficiencies

  • • SCID
  • • CGD
  • • X-linked Agammaglobulinemia
  • • DiGeorge Syndrome
View 120+ Trials →
Pediatric

Rare Pediatric Diseases

  • • Batten Disease
  • • Progeria
  • • Rett Syndrome
  • • Dravet Syndrome
View 290+ Trials →

Revolutionary Treatment Approaches

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Gene Therapy

One-time treatments correcting genetic defects at the source

850+ Studies →
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Gene Editing

CRISPR and base editing to fix mutations permanently

120+ Studies →
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Enzyme Replacement

Providing missing or deficient enzymes for metabolic disorders

340+ Studies →
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RNA Therapies

ASOs and siRNAs targeting disease-causing proteins

280+ Studies →

Comprehensive Patient Support

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Centers of Excellence

Connect with specialized rare disease centers and expert physicians nationwide

Find Centers →
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Financial Assistance

Travel grants, lodging support, and treatment cost coverage for trial participants

Get Support →
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Patient Advocacy

Connect with patient organizations and support groups for your condition

Join Groups →

Expanded Access Programs

Can't join a clinical trial? Expanded access (compassionate use) programs may provide investigational treatments outside of trials for serious rare diseases.

  • For life-threatening conditions without approved treatments
  • Available when clinical trial enrollment isn't possible
  • Requires physician and FDA approval
Learn About Expanded Access

Quick Eligibility Check

Stories of Hope

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"Gene therapy gave my daughter her life back"

After years of decline from SMA, a single gene therapy infusion changed everything. She's now walking, running, and living like any other 8-year-old.

- Maria T., SMA Parent

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"CRISPR trial cured my sickle cell disease"

No more pain crises, no more hospitalizations. The gene editing trial I joined two years ago has completely transformed my quality of life.

- James K., Sickle Cell Warrior

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Join the Rare Disease Registry

Register once and get matched with multiple trials. We'll notify you when new studies open for your condition. Over 50,000 patients already registered.

Join Registry

Your Rare Disease Doesn't Define Your Future

With 95% of rare diseases lacking FDA-approved treatments, clinical trials offer the best hope for breakthrough therapies. Find your trial today.