Autosomal Clinical Trials

49 recruitingLast updated: July 25, 2026

There are 49 actively recruiting autosomal clinical trials across 25 countries. Studies span Phase 2, Not Applicable, Phase 1, Phase 3. Top locations include London, United Kingdom, Rochester, Minnesota, United States, Philadelphia, Pennsylvania, United States. Updated daily from ClinicalTrials.gov.


Autosomal Trials at a Glance

49 actively recruiting trials for autosomal are listed on ClinicalTrialsFinder across 6 cities in 25 countries. The largest study group is Phase 2 with 13 trials, with the heaviest enrollment activity in London, Rochester, and Philadelphia. Lead sponsors running autosomal studies include Mayo Clinic, Inozyme Pharma, and PYC Therapeutics.

Browse autosomal trials by phase

Treatments under study

About Autosomal Clinical Trials

Looking for clinical trials for Autosomal? There are currently 1 studies actively recruiting participants. Clinical trials offer access to new treatments before they are widely available, and every approved therapy in use today was first tested through a clinical trial.

Below you can browse trials, sign up for alerts when new Autosomal trials open, and view eligibility criteria for each study. Each listing includes the study phase, locations, and enrollment details.

Frequently Asked Questions

Common questions about Autosomal clinical trials

A clinical trial is a carefully designed research study that tests new medical treatments, drugs, devices, or approaches in human volunteers. Every approved medication and treatment available today was proven safe and effective through clinical trials.

All clinical trials are reviewed and approved by Institutional Review Boards (IRBs) — independent committees that evaluate patient safety. Trials follow strict protocols, and your health is monitored closely throughout. You can withdraw at any time.

Not necessarily. Many trials compare the new treatment against the current standard of care, meaning all participants receive active treatment. When placebos are used, they are typically combined with standard treatment, not given alone. The trial description will always specify the design.

Under the Affordable Care Act, most private insurers are required to cover routine patient care costs during a clinical trial. The sponsor typically covers the investigational treatment itself. Medicare also covers routine costs for qualifying trials.

Yes. Participation is completely voluntary. You can withdraw at any time, for any reason, without it affecting your access to standard medical care.

Each trial has specific eligibility criteria — including age, diagnosis, disease stage, prior treatments, and general health. Browse the trials listed above and check their eligibility sections. You can also contact the trial site directly to discuss your situation.

Showing 120 of 49 trials

Recruiting
Phase 2

EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety

Alport Syndrome, X-LinkedAlport Syndrome, Autosomal Recessive
Eloxx Pharmaceuticals, Inc.24 enrolled12 locationsNCT07523581
Recruiting
Phase 3

A Study to See if Tolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Autosomal Recessive Polycystic Kidney (ARPKD)
Otsuka Pharmaceutical Development & Commercialization, Inc.20 enrolled23 locationsNCT04782258
Recruiting
Phase 2

A Trial to Compare Treatment With Surlorian (ARM210, S48168) to Placebo in Effects on Muscle Strength and Safety in Adults With Autosomal Dominant RYR1-related Myopathy

Autosomal Dominant RYR1-Related Myopathy
RyCarma Therapeutics, Inc.28 enrolled9 locationsNCT07560020
Recruiting
Phase 1Phase 2

Safety of Single and Repeat Dose of PYC-001 Eye Injections in People With Autosomal Dominant Optic Atrophy (Myrtle)

Autosomal Dominant Optic AtrophyOPA1 Gene MutationHereditary Optic Atrophies+1 more
PYC Therapeutics24 enrolled3 locationsNCT06970106
Recruiting

WiTNNess - TNNT1 Myopathy Natural History Study

MyopathyTNNT1-associated MyopathyInfantile-onset Nemaline Rod Myopathy+9 more
Clinic for Special Children40 enrolled1 locationNCT06374719
Recruiting
Phase 3

STOP-PKD: SGLT2-inhibition to Improve Prognosis in Polycystic Kidney Disease

Polycystic Kidney, Autosomal Dominant
University of Cologne420 enrolled30 locationsNCT07280585
Recruiting

ARPKD Database Study

Autosomal Recessive Polycystic Kidney DiseaseNephronophthisisCongenital Hepatic Fibrosis+7 more
Children's Hospital of Philadelphia200 enrolled6 locationsNCT01401998
Recruiting
Phase 2

Phase 2a Study of VX-407 in Participants With ADPKD Who Have a Subset of PKD1 Gene Variants (AGLOW)

Autosomal Dominant Polycystic Kidney Disease (ADPKD
Vertex Pharmaceuticals Incorporated24 enrolled43 locationsNCT07161037
Recruiting
Phase 1

Phase 1 Study to Evaluate the Safety and Tolerability of Intravenously Administered PYC-003

Autosomal Dominant Polycystic Kidney Disease (ADPKD
PYC Therapeutics166 enrolled10 locationsNCT06714006
Recruiting

Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health and Metabolic Disease

EpilepsyGlucose Metabolism DisordersGlut1 Deficiency Syndrome 1+4 more
Weill Medical College of Cornell University20 enrolled2 locationsNCT05085704
Recruiting
Phase 2

ANCHOR Study: A Study to Assess the Safety and Efficacy of ABBV-CLS-628 in Adult Participants With Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Autosomal Dominant Polycystic Kidney Disease
Calico Life Sciences LLC240 enrolled75 locationsNCT06902558
Recruiting

Long-term Prospective Study of Korean CADASIL Patients

CadasilCerebral Autosomal Dominant Arteriopatie With Subcortical Infarcts and Leukoencephalopathy
Jeju National University Hospital500 enrolled1 locationNCT07497867
Recruiting
Phase 1

Safety, Tolerability and Pharmacokinetics of AZD1613 in Adults With Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease
AstraZeneca40 enrolled15 locationsNCT07228364
Recruiting

The German ADPKD Tolvaptan Treatment Registry

ADPKD (Autosomal Dominant Polycystic Kidney Disease)
University of Cologne2,000 enrolled12 locationsNCT02497521
Recruiting
Phase 2Phase 3

Pharmacokinetics, Efficacy, and Safety of Encaleret in Pediatric Participants With Autosomal Dominant Hypocalcemia Type 1 (ADH1)

Autosomal Dominant Hypocalcemia Type 1 (ADH1)
Calcilytix Therapeutics, Inc., a BridgeBio company28 enrolled6 locationsNCT07080385
Recruiting

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Cystic FibrosisHuntington DiseaseSickle Cell Disease+12 more
Assistance Publique - Hôpitaux de Paris550 enrolled1 locationNCT06147414
Recruiting

RADIOLOGICAL AND CLINICAL EVALUATION OF RENAL EMBOLIZATION USING EVOH IN DIALYSIS PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: A PROSPECTIVE LONGITUDINAL OBSERVATIONAL STUDY

Autosomal Dominant Polycystic Kidney Disease (ADPKD
Fondazione IRCCS Policlinico San Matteo di Pavia30 enrolled1 locationNCT07535385
Recruiting
Phase 3

Implementation of Metformin theraPy to Ease Decline of Kidney Function in Polycystic Kidney Disease (IMPEDE-PKD)

Autosomal Dominant Polycystic Kidney Disease
The University of Queensland1,174 enrolled49 locationsNCT04939935
Recruiting
Phase 1Phase 2

Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB)

ARBBVMDAutosomal-Dominant Bestrophinopathy+1 more
Opus Genetics, Inc10 enrolled4 locationsNCT07185256
Recruiting
Not Applicable

Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases

HealthyAtypical Hemolytic Uremic SyndromeMembranoproliferative Glomerulonephritis+1 more
Mario Negri Institute for Pharmacological Research105 enrolled1 locationNCT05996731