Is NCT01193075 recruiting in Aurora, CO?

Yes, NCT01193075 is currently recruiting participants at its Aurora, CO location. This charcot marie tooth disease clinical trial is actively enrolling qualified participants.

How do I join the charcot marie tooth disease clinical trial in Aurora?

To join this clinical trial in Aurora, complete the eligibility form on this page. A study coordinator will contact you to discuss next steps and determine if you qualify.

Is participation in this Aurora clinical trial free?

Yes, all study-related care is provided at no cost to qualified participants. Many studies also offer compensation for time and travel expenses.

Charcot Marie Tooth Disease Clinical Trial in Aurora, CO

About This Charcot Marie Tooth Disease Study in Aurora

This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a five year window

Sponsor: Michael Shy

Who Can Participate

Inclusion Criteria

All patients must be seen in-person at a participating center for the initial visit. Inclusion Criteria - patients with CMT (all subtypes)

Patient has documented, pathogenic or likely pathogenic CMT-causing variant(s) OR

Patient has a first- or second-degree family member (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented pathogenic or likely pathogenic CMT-causing variant AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis i. A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a pathogenic or likely pathogenic variant, and the parent does not have any signs, symptoms, or electrophysiology consistent with the diagnosis, there is no clear link unless the parent has also been found to have the pathogenic or likely pathogenic variant such as in cases with reduced penetrance ii. In cases where clear links are not available, genetic testing is required for the patient or the family member who is not clearly affected.

Patients who have a variant of uncertain significance, as determined by the laboratory performing the testing may still be included if one of the following circumstances applies: i. Variant is categorized as pathogenic or likely pathogenic per the ACMG variant interpretation guidelines. \[80, 81\] ii. Variant has been found in multiple affected people in a family and has not been found in unaffected family members. (Note - both affected and unaffected family members must be tested in this situation to be included). iii. The principal investigator and the site investigator agree that the variant(s) is (are) most likely pathogenic.

Patients whose clinical presentation is suggestive of CMT, but CMT type and variant are unknown will be characterized by the following categories:

Nerve conduction velocities: demyelinating, axonal, intermediate

Inheritance: dominant, recessive, X-linked, or unknown

Patient or patient's legally authorized representative has understood and signed an IRB approved consent form for the study. Teenagers (age 13 - 17 years) and cognitively impaired adults who are able to read and write must sign an assent form (depending on local ethics committee requirements). Inclusion Criteria - Controls

Person does not have a peripheral neuropathy, as determined by the investigator.

Person has understood and signed an IRB approved consent form for the study. Teenagers (age 13-17 years) must sign an assent form (depending on local ethics committee requirements).

Exclusion Criteria

Patient has a variant of uncertain significance that cannot be further classified following methods listed in the Inclusion Criteria.

Patient does not wish to be a part of the study or has not signed an informed consent form.

Patient is deemed inappropriate by the Site PI.

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in Aurora?

Yes, this clinical trial (NCT01193075) has an active research site in Aurora, CO that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Charcot Marie Tooth Disease Treatment Options in Aurora, CO

If you're searching for charcot marie tooth disease treatment options in Aurora, CO, this clinical trial (NCT01193075) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our Aurora research site is actively enrolling participants for this clinical trial. You'll receive care from experienced charcot marie tooth disease specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all charcot marie tooth disease clinical trials near you to find additional studies recruiting in your area.

Charcot Marie Tooth Disease Clinical Trial in Aurora, CO

Expert Care in Aurora

IRB Approved

No-Cost Care

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