RecruitingOBSERVATIONAL

Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2

This study is exploring Charcot-Marie-Tooth (CMT) disease, a condition that affects the nerves. It has two main goals. Firstly, researchers are searching for new genes that directly cause different types of CMT. Secondly, they are looking for 'modifier genes' – genes that don't cause CMT but can influence how mild or severe a person's symptoms are. By understanding these genes, scientists hope to gain a much clearer picture of CMT and why symptoms vary so much between individuals. This knowledge could eventually lead to better ways to understand and manage the condition for people in the future. The study involves providing a blood sample for genetic testing.

At a glance

Status

Recruiting

Sponsor

University of Iowa

Enrolment target

1,050

Start

01 May 2010

Estimated completion

01 Dec 2026

Charcot-Marie-Tooth Disease, Type Ia (Disorder)HMSN

What is this study about?

Charcot-Marie-Tooth (CMT) is a condition that affects your nerves, particularly those that control muscle movement and sensation in your arms and legs. This can lead to symptoms like muscle weakness, difficulty with balance, and numbness. Because CMT affects people differently – some have very mild symptoms, while others have more severe problems – researchers are keen to understand why this variation occurs.

This study aims to get a deeper understanding of CMT in two main ways. Firstly, they are looking for new genetic causes for CMT. While many genetic causes are known, some people with CMT don't have a known genetic fault, so identifying these new causes is important. Secondly, the study wants to find 'modifier' genes. These genes don't cause CMT themselves, but they can affect how severe the symptoms are in people who already have a known cause of CMT, like CMT1A.

By figuring out which genes are involved in causing CMT and which ones change its severity, scientists hope to learn more about how the condition works. This improved understanding could pave the way for developing better ways to predict how CMT might affect someone, and in the future, potentially lead to new treatments or ways to manage the symptoms more effectively. It's an important step in unraveling the complexities of CMT.

Key takeaways

The study investigates genetic factors in Charcot-Marie-Tooth (CMT).
It aims to find new genes causing CMT and 'modifier' genes affecting symptom severity.
Participation involves providing a single blood sample for genetic analysis.
The research helps improve understanding of CMT, not directly cure or treat it.
You can take part if you have CMT1A or an unknown form of CMT, or are a related control.
Teenagers (13+) can participate with agreement and guardian consent.

Who may be eligible?

This study is open to both adults and teenagers (aged 13 and over) in the UK. If you're a teenager, you'll need to agree to take part and sign a form, along with your guardian's consent. Everyone taking part must provide their clear agreement for the study.

There are two main groups for this study. One group is for people who have Charcot-Marie-Tooth type 1A (CMT1A). You'd need to have a confirmed diagnosis of a specific genetic change (PMP22 duplication) or have a close family member with this change and symptoms that fit with CMT1A. The other group is for people who have CMT, but the exact genetic cause isn't known yet. For this group, a doctor will need to confirm you have nerve problems that suggest a genetic nerve condition.

The study also needs some family members of people with CMT who are taking part in the 'unknown cause' group. These family members might have healthy nerves or might suspect they have nerve problems but haven't been fully checked at a specialist centre. You wouldn't be able to join if you don't want to participate or if you already have a clear diagnosis for your CMT, such as a specific genetic change (like MFN2 causing CMT2A).

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you able to agree to take part and sign a consent form?
Do you have confirmed CMT Type 1A (CMT1A) or a family member with it and similar symptoms?
Do you have nerve problems that a doctor thinks might be a genetic nerve condition, but the exact cause isn't known?
Are you a family member of someone participating whose CMT cause is unknown, and you either don't have nerve problems or suspect them?
Are you 13 years old or older?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, the main thing you'll be asked to do is provide a blood sample. This blood sample will then be sent to a specialist lab at the University of Miami in the USA. They will carefully examine your genes using a technique called exome sequencing. This process looks at the parts of your DNA that contain instructions for making proteins.

The researchers will be looking for specific genetic changes related to CMT, both those that cause the condition and those that might affect how severe your symptoms are. You won't need to take any medication or attend multiple appointments for this study. It's a one-off blood test. The information from your blood sample will be coded to protect your privacy. You can also choose not to participate in the study if you change your mind.

Potential risks and benefits

Taking part in this study mainly involves providing a blood sample, which is generally a very safe procedure with minimal risk, such as a small bruise or slight discomfort at the site of the blood draw. There are no direct personal benefits for you immediately from taking part, as the study results won't directly change your current medical care. However, the information gathered from your blood sample, along with others, will be extremely valuable for medical research. It will help scientists understand CMT much better, potentially leading to future diagnoses and treatments for people with the condition. You have the right to withdraw from the study at any time, even after you've given your blood sample, and it will not affect your medical care.

Locations (22)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Cedars-Sinai Medical Center
Verified postcode
Los Angeles, United States· Recruiting
Stanford University
Verified postcode
Palo Alto, United States· Recruiting
University of Colorado Hospital
Verified postcode
Aurora, United States· Recruiting
Connecticut Children's Medical Center
Verified postcode
Hartford, United States· Recruiting
University of Miami
Verified postcode
Miami, United States· Recruiting
University of Iowa
Verified postcode
Iowa City, United States· Recruiting
Johns Hopkins University
Verified postcode
Baltimore, United States· Recruiting
Harvard/Massachusetts General Hospital
Verified postcode
Boston, United States· Recruiting
University of Michigan
Verified postcode
Ann Arbor, United States· Recruiting
University of Minnesota
Verified postcode
Maple Grove, United States· Recruiting
University of Rochester
Verified postcode
Rochester, United States· Recruiting
University of North Carolina
Verified postcode
Chapel Hill, United States· Recruiting

Common questions

What is Charcot-Marie-Tooth (CMT) disease?

CMT is a group of inherited conditions that damage nerves, mostly in your arms and legs. This can cause muscle weakness, numbness, and problems with balance.

Why do the researchers need my blood?

Your blood contains your DNA, which holds your genetic information. Researchers will examine this to find genes related to CMT, either those that cause it or affect its severity.

Will I get my genetic results back?

The study description doesn't specifically say that you will receive your individual genetic results. The primary goal is for research to understand CMT generally.

Is this study looking for a cure for CMT?

This study is focused on understanding the genetic causes and factors that influence CMT severity. This knowledge is a crucial step towards developing potential future treatments, though it's not directly a treatment trial.

Who is paying for this study?

The study mentions blood samples being sent to the University of Miami, indicating it's an academic research project, likely funded through grants or institutional support.

How to find out more

Tiffany Grider, MS, CGC

uicmtclinic@uiowa.edu 319-384-6362 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.