LHON Clinical Trials

The Clinical Trial Registers

In the USA and the European Union, all properly set up and managed Clinical Trials must be recoreded and tracked in a central register.

These central registers help the governments make sure that the trials are properly set up and run, following the regulations and ethical standards needed to safely put a new treatment on the market.

Search the US National Institute of Health Clinical Trials Register for Leber Optic Neuropathy

Search the European Union (EU) Clinical Trials Register for LeberOptic Neuropathy

Developing a new treatment


There are two major ways of developing a treatment for a disease.

  • Start from scratch
  • Take a treatment already used for one disease and “re-purpose it” for a different disease.

Re-purposing an existing treatment can get to market much faster, because a lot of the steps to prove the safety of the treatment should already have been done. Even the production, packaging, distribution and much of the marketing might already be in place.

A lot of the time, researchers test out new treatment approaches in the laboratory.  the steps they take might be:

“In Vitro” Testing

Literally “in glass” – this just means testing the treatment using a process in a test tube, beaker, petri dish or other piece of laboratory equipment.

A lot of the time this research uses “cell cultures”.  A cell culture is living cells that can be grown in laboratory test tubes, beakers.

The researchers might develop their own cell culture, get one from another researhcer, or from a company selling them.

The researcher might use something that is easy to grow and handle, like Yeast.  Besides being the useful fungus used to make bread or beer, Yeast is used by a lot of scientists to experiment on the very basic processes of life, like the way Mitochondria work.

Experimental Animals

Useful as “in vitro” work is, it is no substitute for investigating the complicated processes inside a living plant or animal.

There are many animals used a lot for scientific work.  The main reasons for re-using the same kind of animals are:

  • We know they use the process being studied e.g. producing ATP
  • They are small and easy to handle.
  • They breed quickly and have short lifecycles
  • The more one animal species is used, the more we already know about it, so we are building on the work already done.
  • A Human disease can be reproduced in the animal (an “animal model”)
  • The effects of a treatment can be seen and measured in the animal
  • Scientists agree that the results from this animal are applicable to Humans, or at least to move on to the next step in research.

As well as Yeast, Common Animals used in research on mitochondria are:

  • Worms
  • Mice

Clinical Trial Phases

At some point a new treatment has to be properly studied and assessed in people.  These are the Human Clinical Trials.

There are standard steps to take, or Clinical Trial Phases, and a lot of the on-line or press news will refer to the Phase Numbers as a shorthand.  That is because Doctors, Researchers, Drug Companies, Regulators and so on all use the same standard.

The following descriptionis are based on the US NIH Clinical Trials Phases

The Clinical Trial Phases often use Roman Numerals so Phase II means Phase Two, not Phase Eleven!


Phase I ( 1- Safety)

Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.

Phase II ( 2 – Safety and Efficacy)

The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.  Does the drug actually produce a measurable improvement as expected?  A drug might be Ok for one or two people, but in a larger trial the researchers might find that too many patients suffered bad side effects.

Phase III ( 3 – Relative Effectiveness, Cost/Benefit Trial)

he drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.

Release to Market

Phase IV ( 4 – Monitoring and Population Studies)

Studies are done after the drug or treatment has been marketed to gather information on the drug’s effect in various populations and any side effects associated with long-term use

This page was last updated August 15 2015

The Placebo Effect


This is a well-known problem in healthcare and medical research.

A simple description of the Placebo effect is:

  1. A person with an illness will often feel better and symptoms will improve if they are getting any kind of treatment, even if it is a fake made of sugar, chalk or just water.
  2. The person will get more benefit, emotionally and physically, from a more “aggressive” treatment even if it is a fake.  for example, people get more improvement from a fake injection than from a fake pill, because it feels like a “stronger” medial procedure.
  3. Many people will experience the first two points even if they are told that the treatment is a fake.

Good researchers take grat pains to design their clinical trials to take account of the Placebo Effect and avoid false results from the trial.

A common technique used is the “Double-blind Placebo-controlled” Clinical Trial.

This means the clinical trial is designed with a reasonably large number of patients.  Patients are randomly allocated ID numbers, and all treatments are organised using these secret ID numbers.

The trial patients are randomly allocated into two groups. One group will be given the real treatment, the other group will be given a fake version.

the group given the fake treatment is called the “Control” group or the “Placebo” group.

For example,  Group A of patients might be given a daily injection of salt solution (saline) , and Group B is also given a daily injection, but of Saline plus the drug to be tested.

The Researchers, Doctors, Drug Company Reps or anyone else running the trial never find out which patients receive the real treatment and which patients receive the fake.


The Patients themselves don’t know if the treatment is real or fake during the trial.

At the end of the Trial, the researchers pull together the results from all of the patients.

If the people who got the “fake” or placebo treatment improved just as much as the people who got the real treatment, it shows that the improvements are probably just down to the Placebo Effect.

This page was last updated August 15 2015.

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