Active not recruitingPHASE2, PHASE3INTERVENTIONAL

Pharmacodynamic EffIcacy and Clinical Benefit of AT 007 in Patients With Sorbitol Dehydrogenase (SORD) Deficiency

This research study is investigating a new medication, AT-007, for a genetic nerve condition known as SORD deficiency. The study aims to find out if AT-007 is safe to use and if it can help improve or slow down the symptoms of this condition. Participants will be randomly given either AT-007 or a placebo (a dummy medicine) for up to two years. Researchers will then compare how both groups progress. This is a "double-blind" study, meaning neither the participants nor their doctors will know who is receiving the actual medicine until the study ends. This helps ensure fair and accurate results. The trial is open to people aged 18 to 55 who have been diagnosed with SORD deficiency.

At a glance

Status

Active not recruiting

Phase

PHASE2, PHASE3

Sponsor

Applied Therapeutics, Inc.

Enrolment target

Start

01 Jan 2022

Estimated completion

01 Oct 2026

Hereditary Neuropathy Caused by SORD Deficiency

What is this study about?

This study is looking into a new medicine called AT-007 for people living with a condition known as SORD deficiency. SORD deficiency is a genetic condition that affects the nerves, which can lead to problems with movement and sensation. There isn't a specific treatment for SORD deficiency right now, so finding new ways to help is really important.

The main goal of this study is to see if AT-007 can help improve the symptoms caused by SORD deficiency and if it's safe to use. Researchers also want to understand how the body uses and processes AT-007. They'll be looking at things like how quickly the medicine works and if it can reduce certain markers in the body related to the disease.

This study is designed to be very thorough. Some participants will receive AT-007, while others will receive a placebo – a substance that looks exactly like the medicine but contains no active drug. This is done to accurately compare the effects of AT-007. Neither you nor your doctor will know which one you're receiving, which helps make sure the results are unbiased. The study will last for up to two years, and if you complete it, you might be able to continue receiving the active medicine in a follow-up phase.

Key takeaways

This study is for people with SORD deficiency, aged 18 to 55.
It's testing a new medicine, AT-007, against a dummy treatment (placebo).
Participation involves regular clinic visits for up to 2 years.
The goal is to see if AT-007 is safe and helps improve symptoms.
You won't know if you're getting AT-007 or the placebo during the study.
All study treatments, tests, and medical support are provided.

Who may be eligible?

To join this study, you generally need to be a man or a woman aged between 18 and 55 years old. You must have a confirmed diagnosis of SORD deficiency, which would have been identified through medical records, a healthcare professional, and genetic testing showing specific changes in your SORD gene, along with high levels of a substance called sorbitol in your body.

There are also some important points about birth control. Women who can become pregnant must agree to use effective birth control during the study and for a short time afterwards. Women who are unable to become pregnant because of surgery or menopause are also eligible. Similarly, men who can father a child must also agree to use effective birth control during the study and for a short time afterwards, or be unable to father children due to surgery.

You wouldn't be able to join if your SORD deficiency has already caused very severe problems with your walking, for example, if you can't walk a certain distance without help or if it takes you a very long time. Also, you might not be able to participate if you have other serious medical conditions affecting your blood, kidneys, liver, hormones (like diabetes), metabolism, lungs, or brain, as these could affect the study results or your safety.

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 between 18 and 55 years old?
Do you have a confirmed diagnosis of SORD deficiency?
Are you able to use suitable birth control if needed (for both men and women)?
Are your existing medications stable and approved by the study doctor?
Can you attend regular clinic visits and fulfil study requirements?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you will be enrolled for up to 24 months. You'll be randomly assigned to either receive AT-007 or a placebo, and neither you nor your doctors will know which one it is. You'll take the study medicine once a day. Throughout the study, you'll have regular visits to the study clinic, which will involve various assessments. These will include blood tests to check how the medicine is working and for your safety, physical examinations, and questionnaires to understand how you are feeling and how your condition is affecting your daily life. You'll also complete functional tests, like walking tests, to see how your physical abilities change over time. It's important that any other medicines or supplements you are taking are at a stable dose before the study begins and remain stable throughout, and these will need to be approved by the study doctor. You'll also need to be able to stay at the clinic for certain periods as required by the study plan.

Potential risks and benefits

Taking part in any clinical study comes with potential benefits and potential risks. The potential benefits of this study include receiving a new investigational medicine that might help your SORD deficiency. You'll also receive careful monitoring of your health throughout the study. However, there's no guarantee that AT-007 will be effective for you, and you might receive the placebo. Potential risks could include side effects from the medication, which will be carefully monitored. You'll also need to commit time for study visits and tests. Before joining, the study team will explain all known risks. It's important to remember that you are free to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (10)

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

University of Colorado
Verified postcode
Aurora, United States
University of Miami
Verified postcode
Coral Gables, United States
University of Iowa
Verified postcode
Iowa City, United States
Massachusetts General Hospital
Verified postcode
Boston, United States
Hassman Research Institute
Verified postcode
Berlin, United States
University of Rochester
Verified postcode
Rochester, United States
University of Pennsylvania
Verified postcode
Philadelphia, United States
Axon Clinical, s.r.o.
Verified postcode
Prague, Czechia
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Verified postcode
Milan, Italy
University College of London
Verified postcode
London, United Kingdom

Common questions

What is SORD deficiency?

SORD deficiency is a genetic condition that affects the nerves, which can cause problems with movement and sensation.

What is AT-007?

AT-007 is an investigational medicine being tested in this study to see if it can help people with SORD deficiency.

What does 'randomised, double-blind' mean?

It means you'll be randomly assigned to either get the real medicine or a dummy medicine (placebo), and neither you nor your doctor will know which one you're receiving.

How long will the study last?

The study will last for up to 24 months, which is about two years.

Will I have to travel for this study?

Yes, you will need to attend appointments at one of the study centers, which are located in different places around the world.