Recessive Clinical Trials

1 recruiting

Frequently Asked Questions

Common questions about Recessive 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 117 of 17 trials

Recruiting
Phase 1

The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency

Pseudoxanthoma ElasticumEctonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyAutosomal Recessive Hypophosphatemic Rickets+2 more
Inozyme Pharma16 enrolled7 locationsNCT05734196
Recruiting
Phase 3

ENERGY 2: Evaluation of the Efficacy and Safety of INZ-701 in Infants With ENPP1 Deficiency

Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyAutosomal Recessive Hypophosphatemic RicketsGeneralized Arterial Calcification of Infancy 1
Inozyme Pharma12 enrolled8 locationsNCT07473973
Recruiting
Not Applicable

Effects of a Supervised Rehabilitation Program on Disease Severity in Spastic Ataxias

Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenaySpastic Paraplegia 7
Laval University84 enrolled5 locationsNCT06261424
Recruiting
Phase 3

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

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

Imaging Assessments of ARPKD Kidney Disease Progression

Autosomal Recessive Polycystic Kidney Disease
The Cleveland Clinic60 enrolled2 locationsNCT07201025
Recruiting
Not Applicable

Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies

NephronophthisisDisorderNPH1+4 more
Imagine Institute310 enrolled1 locationNCT06648044
Recruiting
Not Applicable

Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia

Autosomal Recessive Cerebellar Ataxia
University Hospital, Strasbourg, France400 enrolled8 locationsNCT04261127
Recruiting

A Natural History Study of Corneal Abrasions in Patients With Dystrophic Epidermolysis Bullosa (DEB)

Epidermolysis Bullosa DystrophicaEpidermolysis Bullosa Dystrophica, RecessiveEpidermolysis Bullosa Dystrophica Dominans
Krystal Biotech, Inc.40 enrolled1 locationNCT06563414
Recruiting

ARPKD Database Study

Autosomal Recessive Polycystic Kidney DiseaseHepato/Renal Fibrocystic DiseaseJoubert Syndrome
Children's Hospital of Philadelphia200 enrolled6 locationsNCT01401998
Recruiting

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Rare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+188 more
Sanford Health20,000 enrolled2 locationsNCT01793168
Recruiting
Not Applicable

Phe for Me? The Effects of L-Phe on PKU Carriers and Non-carriers

Autosomal Recessive Disorder (Genetic Carriers of PKU)
University of Guelph50 enrolled2 locationsNCT06119048
Recruiting
Not Applicable

Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis

Hypercholesterolemia, Autosomal DominantHypercholesterolemia, Autosomal RecessiveFamilial Combined Hypercholesterolemia
Abu Dhabi Health Services Company40 enrolled1 locationNCT06535542
Recruiting

WiTNNess - TNNT1 Myopathy Natural History Study

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

Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital

Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
Sohag University30 enrolled1 locationNCT06601829
Recruiting

Brain Metabolism Observed at 7 Tesla

EpilepsyGlucose Metabolism DisordersGlut1 Deficiency Syndrome 1+4 more
University of Texas Southwestern Medical Center20 enrolled1 locationNCT05085704
Recruiting

National Registry of Rare Kidney Diseases

Denys-Drash SyndromeTuberous SclerosisAutosomal Recessive Polycystic Kidney Disease+81 more
UK Kidney Association35,000 enrolled1 locationNCT06065852