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Clinical trials are important because they provide new insight into diseases and new treatment options.  The U.S. Food and Drug Administration (FDA) oversees clinical trials to provide safety oversight for patients.

Whether you’ve taken a medication today to manage a chronic disease or simply to keep a headache at bay, you know that medical innovations have the power to change lives. These breakthroughs don’t just happen. Developing new medicines is a lengthy and complex process, relying heavily on volunteer participation to evaluate potential therapies for safety and effectiveness in clinical studies. Without the patients who volunteer to participate in clinical trials, the development of new medicines would not be possible.

A clinical trial is a formal medical study using human volunteers that allows researchers to better understand a particular disease. They can be conducted for:

  • Prevention
  • New treatment options
  • New diagnostic alternatives
  • Improve quality of life for patients with a serious disease

As of March 2020, 2 Alport syndrome-specific human clinical trials are in progress and a third, non-Alport-specific trial is open to patients who qualify.

Considering there were 0 human trials just 3 years ago, this is a significant improvement. However, this is disproportionately low. A primary point of concern is Alport syndrome does not have enough pharmaceutical interest proportionate to the number of patients who are affected.

Insight & new treatment options

Here are ways YOU can support research into potential therapies for Alport syndrome and increase the number of trials available to our community

  • In rare diseases like ours, study trial groups are small making every data point extremely meaningful. If currently enrolled in a clinical trial, work closely with your physician and clinical study coordinator to stay enrolled until completion of the trial.
  • Patient data drives clinical trials. If you live in the U.S., submit your patient data (lab results, genetic test results, hearing test audiograms over time) securely and digitally to ASTOR, the U.S. patient registry. For questions or to submit, contact: [email protected].
  • Stay informed. As more trials become available, review if you or your family members are eligible to enroll.

Laboratory Research Studies & Clinical Trials

Following laboratory research studies, researchers create a plan, or protocol, for how to conduct similar tests on human participants. The protocol provides a detailed outline researchers will follow and helps safeguard the health of individuals participating in the study.

In order to conduct a clinical trial, researchers identify individuals who are affected by the disease they are studying; however, they may also need healthy participants who may or may not have the disease, depending on the protocol requirements. Each clinical trial has different requirements for participation. Researchers carefully screen all volunteer participants to ensure each individual meets the protocol parameters and that they understand the important details of the proposed clinical trial and agree to participate.

Following completion of a clinical trial, researchers evaluate the data collected and determine its value for additional research and treatment. Further clinical trials may or may not be deemed appropriate. However, clinical trials are important because they provide new insight into diseases and new treatment options.

Following completion of a clinical trial, researchers evaluate the data collected and determine its value for additional research and treatment. Further clinical trials may or may not be deemed appropriate.

Clinical trials are conducted in phases that accomplish different purposes. For example, the ATHENA study was an observational study designed to learn more about the changes over time in the kidneys of Alport syndrome patients. This study did not involve the use of any investigational drugs. The Multiple Ascending Dose study tested an investigational drug in healthy patients (i.e., people without Alport syndrome) to make sure there were no safety concerns or serious side effects. The CARDINAL study is testing how specific drugs affect chronic kidney disease in people with Alport syndrome.

Below is a simple explanation of the different stages in the development of new treatments:

  • Observational study | This early phase allows researchers to better understand the natural progression of the disease they are studying. While experimental drugs are not typically provided during observational studies, participants are often able to continue taking existing medications prescribed by their own physicians.
  • Phase 1 trial | Before new medications are approved for human patients, researchers give the experimental drugs to a small group of healthy volunteers. Researchers determine appropriate dosage and test for safety and side effects.
  • Phase 2 trial | Once an experimental drug is deemed safe for patients, it is administered to a small group of patients to see if it improves health outcomes for the condition being studied and to continue to evaluate safety.
  • Phase 3 trial | Once data demonstrates an experimental treatment is both safe and effective, a larger group of patients are given the drug. Researchers continue to evaluate the safety and determine if the new drug is more or less effective than current treatments.
  • Phase 4 trial | After the new treatment is marketed to patients, researchers continue to assess the drug’s safety and efficacy.

Alport syndrome Patients, family members, and physicians are invited to join the patient registry. When a new trial is announced, the patient registry will contact any registry participants who meet the study protocol requirements. To learn more about and/or join the U.S. patient registry, ASTOR (Alport Syndrome Treatments and Outcomes Registry) at the University of Minnesota, visit here for information.

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