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Study on the Effects of AT-007 for Patients Aged 16-55 with Sorbitol Dehydrogenase Deficiency

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a rare genetic condition known as Sorbitol Dehydrogenase (SORD) Deficiency. This condition affects the body's ability to process certain sugars, leading to various health issues. The study will test a new treatment called AT-007, which is taken as an oral suspension. The purpose of the study is to evaluate the effectiveness and benefits of AT-007 in patients with SORD Deficiency.

The study will be conducted in two parts over a period of 24 months. Participants will receive either the AT-007 treatment or a placebo, which is a substance with no active medication. The study will monitor changes in the levels of sorbitol, a type of sugar, in the blood over 12 months. Additionally, the study will assess the impact of the treatment on participants' ability to walk or run a short distance over 24 months. This will help determine if AT-007 can improve physical function in people with SORD Deficiency.

Throughout the study, participants will undergo various assessments, including the 10-meter walk/run test (10MWRT), to measure their physical abilities. The study will also look at changes in muscle composition using MRI scans and gather feedback from participants about how the disease and treatment affect their daily lives. The goal is to understand the potential benefits of AT-007 for individuals with SORD Deficiency and to gather valuable information that could lead to improved treatment options in the future.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial assessment

    Upon joining the study, an initial assessment is conducted to confirm eligibility. This includes reviewing medical history and current medications.

    Eligibility is based on age, gender, and a confirmed diagnosis of sorbitol dehydrogenase (SORD) deficiency.

  2. Step 2

    Baseline measurements

    Baseline measurements are taken to establish a starting point for the study. These include blood tests to measure sorbitol levels and a 10-meter walk/run test (10MWRT) to assess mobility.

  3. Step 3

    Medication administration

    Participants receive either AT-007 or a placebo. The medication is administered as an oral suspension.

    The dosage and frequency are determined by the study protocol and are maintained consistently throughout the study.

  4. Step 4

    Ongoing assessments

    Regular assessments are conducted to monitor progress. These include blood tests to measure changes in sorbitol levels and repeated 10MWRTs.

    Additional assessments may include MRI scans to evaluate muscle composition and questionnaires to understand the impact of the condition on daily life.

  5. Step 5

    Mid-study evaluation

    At the 12-month mark, a comprehensive evaluation is conducted. This includes reviewing changes in sorbitol levels and mobility tests.

    The results are compared to baseline measurements to assess the effectiveness of the treatment.

  6. Step 6

    Final evaluation

    At the end of the 24-month study period, a final evaluation is conducted. This includes all previous assessments to determine the long-term effects of the treatment.

    Participants may be asked to provide feedback on their experience during the study.

Who can join the trial?

7 criteria

  • Willing and able to provide signed and dated informed consent before any study-related procedures and willing and able to follow all study procedures.
  • Male and non-pregnant, non-breastfeeding female patients between the ages of 16 and 55 years, inclusive.
  • Females must either be unable to have children (due to surgery like removal of ovaries or uterus, or being postmenopausal for at least one year) or agree to use a reliable form of birth control from the start of the study until 30 days after the last dose of the study drug.
  • Males must either be unable to father children (due to surgery like a vasectomy) or agree to use a reliable form of birth control from the start of the study until 30 days after the last dose of the study drug.
  • Must have a clinical diagnosis of **CMT2** or **dHMN** due to **SORD Deficiency**, confirmed by medical records or a healthcare professional, with high sorbitol levels (more than 10,000 ng/mL) and a gene analysis report showing a specific mutation in **SORD**.
  • Patients can be on other medications and dietary supplements, but they must be on stable doses for at least one month before the study starts and throughout the study. All over-the-counter and prescription medications must be reviewed and approved by the study doctor.
  • Willing and able to stay at the clinical research unit as required by the study protocol.

Who cannot join the trial?

4 criteria

  • Patients who are not between the ages of 16 and 55 years old.
  • Patients who do not have **Sorbitol Dehydrogenase (SORD) Deficiency**. This is a condition where the body has trouble breaking down a sugar called sorbitol.
  • Patients who are unable to perform the **10-meter walk/run test (10MWRT)**. This is a simple test where a person is asked to walk or run a distance of 10 meters.
  • Patients who are part of a vulnerable population. This means groups of people who might need special protection or care.
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Investigated drugs

AT-007 is a medication being studied for its potential benefits in patients with Sorbitol Dehydrogenase (SORD) Deficiency. This condition affects how the body processes certain sugars, leading to an accumulation of sorbitol, which can cause various health issues. The trial aims to assess how well AT-007 can improve physical abilities, specifically by measuring performance on a 10-meter walk/run test over a period of 24 months. Additionally, the study will evaluate how AT-007 affects blood sorbitol levels over 12 months, which could indicate its effectiveness in managing the condition.

What is already known about the treatment

AT-007 – This medication is administered orally and is currently being studied in clinical trials for its potential benefits in treating Sorbitol Dehydrogenase (SORD) Deficiency. It is in the investigational stage, with ongoing research to determine its effectiveness and safety. The main therapeutic indication for AT-007 is to improve mobility and reduce sorbitol levels in patients with SORD Deficiency. At the molecular level, AT-007 works by inhibiting the enzyme aldose reductase, which is involved in the conversion of glucose to sorbitol, thereby reducing sorbitol accumulation. It is classified pharmacologically as an aldose reductase inhibitor.

Investigated diseases

Sorbitol Dehydrogenase (SORD) Deficiency – This is a rare genetic disorder that affects the body's ability to process sorbitol, a type of sugar alcohol. Individuals with this condition have a deficiency in the enzyme sorbitol dehydrogenase, which is crucial for converting sorbitol into fructose. As a result, sorbitol accumulates in the body, particularly affecting nerve and muscle tissues. Over time, this accumulation can lead to symptoms such as muscle weakness, difficulty walking, and other neuromuscular issues. The progression of the disease can vary, with some individuals experiencing more severe symptoms than others. The condition is typically identified in adolescence or adulthood, and its impact on daily life can be significant.
Trial detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase IVTrial ID2024-518250-16-00Protocol codeAT-007-1005Estimated enrolment72 patientsSponsorApplied Therapeutics Inc.

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