Ongoing, recruitingPhase II and Phase III (Integrated)Interventional

A RandomIzed, Double-Blind, Placebo-CoNtrolled, Two-Part Study to Evaluate the Pharmacodynamic EffIcacy and Clinical Benefit of AT 007 in Patients with SoRbitol Dehydrogenase (SORD) DEficiency

This research study is investigating a new oral medication called AT-007 for people living with a condition called Sorbitol Dehydrogenase (SORD) Deficiency. SORD Deficiency can affect how your body works, and the study aims to see if AT-007 can help. Participants will either receive AT-007 or a placebo (a dummy medicine that looks the same but contains no active drug). The study is specifically looking to see if AT-007 can reduce levels of a substance called sorbitol in the blood. Researchers will also be checking if the medicine helps improve how people walk and perform daily activities over a period of up to two years. This is a "double-blind" study, meaning neither you nor your doctor will know if you're getting the active medicine or the placebo.

At a glance

Status

Ongoing, recruiting

Phase

Phase II and Phase III (Integrated)

Sponsor

Applied Therapeutics Inc.

Enrolment target

Start

13 Jan 2025

Sorbitol Dehydrogenase (SORD) Deficiency

What is this study about?

This study is about a condition called Sorbitol Dehydrogenase (SORD) Deficiency. SORD Deficiency is a condition where the body has trouble processing a sugar called sorbitol, leading to its build-up. This build-up can cause various health problems, which can get worse over time. Doctors and scientists are looking for ways to treat this condition and improve the lives of people living with it.

This study, named AT-007, is testing a new medicine designed to help manage SORD Deficiency. The main goal is to see if this medicine can reduce the amount of sorbitol in the blood, which researchers hope will improve how people feel and function. They will also look at how participants walk and how well they can do everyday tasks, as these are important measures of a person's health and wellbeing.

By carefully studying the effects of AT-007, and comparing it to a placebo (a treatment that looks exactly like the real medicine but contains no active drug), researchers can understand if AT-007 is safe and effective. The information gained from this study is crucial for potentially developing new treatments for SORD Deficiency, which could make a real difference to patients in the future.

Key takeaways

This study tests a new medicine for SORD Deficiency called AT-007.
It aims to see if AT-007 lowers sorbitol levels and improves walking/function.
You might receive AT-007 or a placebo (dummy medicine).
The study involves clinic visits, blood tests, and functional assessments for up to two years.
Participation is voluntary, and you can withdraw at any time.

Who may be eligible?

To be considered for this study, you need to be at least 18 years old. There is no upper age limit, meaning older adults can also take part.

Both men and women are welcome to join this study. The researchers are looking for a diverse group of people to make sure the results are as widely applicable as possible.

To find out if you're a good fit for this particular study, the research team will review your medical history and conduct some health checks. This is to ensure the study is safe for you and that your participation will help answer the research questions effectively. It's important to remember that only the study team can confirm if you meet all the requirements.

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 18 years old or older?
Do you have a diagnosis of SORD Deficiency?
Are you able to attend regular clinic appointments for up to 2 years?
Are you willing to take an oral liquid medicine daily?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you will be given either the study medicine, AT-007, or a dummy medicine (placebo), both as an oral liquid that you take by mouth. You won't know which one you're receiving, and neither will your doctor, which is a common practice in this type of research to get unbiased results.

During the study, you'll have several visits to the clinic over a period of up to two years. At these visits, doctors and nurses will take blood samples to measure your sorbitol levels and perform tests to check your walking ability and overall physical function. You might also have scans, like an MRI, to look at your muscles, and answer questions about how you feel and how the condition affects your daily life. Regular follow-up appointments will be scheduled to monitor your health and progress throughout the study. At the very end of your participation, there will be a chat to gather your thoughts on your experience.

Potential risks and benefits

Potential benefits of taking part could include gaining early access to a new treatment that might help manage your SORD Deficiency, and contributing valuable information that could help others with the condition in the future. However, there's no guarantee that you will receive the active drug or that it will be effective for you. Potential risks might include side effects from the study medicine, discomfort from blood tests or other procedures, and the time commitment required for clinic visits. The research team will explain all known risks in detail. Remember, your participation is completely voluntary, and you can withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (2)

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

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Unverified
Czechia
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Unverified
Italy

Common questions

What is SORD Deficiency?

SORD Deficiency is a condition where your body has trouble processing a sugar called sorbitol, leading to it building up and potentially causing health problems.

What is AT-007?

AT-007 is a new experimental medicine being tested to see if it can help reduce sorbitol levels in people with SORD Deficiency.

What does 'double-blind' mean?

It means neither you nor your study doctor will know if you are receiving the active medicine or a dummy medicine (placebo). This helps make the study fair.

How long does the study last?

Participation in this study could last for up to two years, with regular visits to the clinic.

Will I have to take injections or pills?

The study medicine (AT-007 or placebo) will be given as an oral liquid, which means you drink it.