Clin2
NCT07360574Worth exploringNot yet recruiting

Understanding how PIEZO2 gene changes affect arthrogryposis

Arthrogryposis Multiplex CongenitaPiezo2 Mutation Gain of Function

Part of Bones, joints & muscles, Genetic & congenital clinical trials.

This study looks at how a specific genetic change (in the PIEZO2 gene) affects people with arthrogryposis, a condition that causes joint stiffness. Researchers hope to learn more about the condition to improve care.

Summary written for real people, not researchers, by Clin2.

Phase
N/A
Enrollment
12 people
Ages
10 years and older
Study type
Observational

Who can take part

  • You or your child have a specific change in the PIEZO2 gene (called a 'gain of function' mutation).
  • You are at least 10 years old.
  • You are already enrolled in a special registry called PARART for people with arthrogryposis.

View the official record on ClinicalTrials.gov

Quick eligibility check

Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.

Similar studies

Other trials that look related to this one.

NCT06687564Recruiting
Study of ACTG2 gene changes in children with intestinal blockage

This study looks at how changes (mutations) in a gene called ACTG2 affect the muscles that move food through the gut in children and adults with a rare condition called pediatric intestinal pseudo-obstruction (PIPO). It may help researchers understand the condition better and find new ways to help patients.

Montpellier
NCT06052631Not yet recruiting
Nerve response study in piezo2 gene mutation

This study uses a tiny probe to measure how your nerves respond to touch and pain. It compares healthy people with those who have a rare genetic condition (PIEZO2) that affects sensation, to understand why some people feel touch differently.

Bethesda, Maryland
NCT06976606Recruiting
A study of adults with PKP2-linked arrhythmogenic cardiomyopathy

This study follows people with a confirmed PKP2 genetic mutation and arrhythmogenic cardiomyopathy (ACM) to understand how their condition changes over time. It may help doctors learn more about the disease and plan future treatments.

Redwood City, California
NCT05354622Recruiting
Genetic testing study for inherited leg stiffness

This study looks at genes (DNA) to understand an inherited condition that causes gradually worsening leg stiffness. It may help researchers learn what causes the condition and potentially guide future care.

Boston, Massachusetts
NCT06967727Recruiting
Registry study for epilepsy and movement disorders

This study is creating a registry to track the health of people who have specific genetic changes that cause epilepsy and uncontrolled movements (dyskinesia). It may help researchers better understand these conditions and how they change over time.

Boston, Massachusetts
NCT00001403Recruiting
Understanding Proteus Syndrome and Related Growth Disorders

This study investigates Proteus syndrome, a rare condition that causes abnormal overgrowth of body parts, and related disorders. Researchers want to understand how these conditions develop, progress over time, and affect people of different ages—including how they may change into adulthood.

Bethesda, Maryland

Hear when a new Arthrogryposis Multiplex Congenita trial opens

We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.