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We are pleased to invite you to share our expanded Patient Advocacy website. The important role of patient advocacy is to bring the voices of the patient community to Audentes and the voice of Audentes to the patient community. Each month we will be providing updated information on important topics including patient stories, key medical and patient meetings, clinical trials, and other news of note. If you would like to receive website updates and other news from Audentes please subscribe. As Vice President of Patient Advocacy, I look forward to working together and meeting many of you at family meetings.    


Barbara H. Wuebbels, RN, MS
Vice President of Patient Advocacy

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Education Corner

Stay updated on recent news from Audentes, which may be found below.


We have initiated our first clinical study of patients with XLMTM, entitled RECENSUS: A Medical Chart Review of Patients with XLMTM. RECENSUS is a Latin word which means to review and investigate. The goal of this study is to collect existing information from patients’ medical charts in order to better characterize the condition and associated medical care for males with XLMTM.

This is a retrospective, non-interventional study, meaning there is a review of past care that is contained in patients’ medical notes. It does not require visits to a study site or any medical procedures.

We hope that this study will contribute considerably to the understanding of XLMTM. If you are interested in having your or your child’s medical chart included, please follow this link for more information about the study and participating sites.

If you have previously enrolled your child in the XLMTM chart study from Dr. Alan Beggs’ lab, you do not need to take any further steps.

Why are retrospective chart review studies important?

In the last educational update, we introduced the three phases of a traditional clinical trial typically required before regulatory approval.

In traditional clinical trials for diseases with larger populations, there are often two (or more) groups of patients (study “subjects” or “participants”) receiving different treatments or a placebo. A placebo has no therapeutic efficacy but is administered the same way as the study treatment, and is often used as a control when testing new drugs. As the study treatment and placebo are administered the same way and patients are not told what they are receiving, we say that each group is “blinded”. At the end of the study, results from patients who received the study treatment can be compared with results from those who received the placebo to provide an objective evaluation of the study treatment’s efficacy .

In the case of very rare diseases, such as XLMTM, it is not always possible to have a selected group of study subjects receive a placebo medication because there are so few patients to start with. A retrospective chart review like RECENSUS is one method of creating a comparator group without depriving any study participant of the study treatment. The medical records of untreated patients (living and deceased) can be used to gather data about the natural history of the disease, such as average life expectancy, common signs/symptoms, age at diagnosis, medical treatments and surgical procedures. These data become the comparator group against which the new treatment is evaluated.

The aim is to use data from the RECENSUS study as a comparator for clinical studies of potential treatments for XLMTM.