Ongoing Clinical Trials for Adrenoleukodystrophy
There are currently 7 clinical trials investigating new treatments for adrenoleukodystrophy, a rare genetic condition affecting the nervous system. These studies are evaluating various approaches including gene therapy, oral medications, and drug interactions across multiple countries in Europe. Trials are being conducted in France, Germany, Italy, the Netherlands, Poland, and Spain, offering opportunities for eligible patients to access experimental treatments.
Clinical trial locations
- France
- Study on the Effects of Leriglitazone for Adult Men with Cerebral Adrenoleukodystrophy
- Long-term Safety and Efficacy Study of Elivaldogene Autotemcel for Patients with Cerebral Adrenoleukodystrophy
- Study on the Effects of Leriglitazone in Male Children with Cerebral X-Linked Adrenoleukodystrophy Before Stem Cell Transplant
- Germany
- Study on the Effects of Leriglitazone for Adult Men with Cerebral Adrenoleukodystrophy
- Long-term Safety and Efficacy Study of Elivaldogene Autotemcel for Patients with Cerebral Adrenoleukodystrophy
- Study on the Effects of Leriglitazone in Male Children with Cerebral X-Linked Adrenoleukodystrophy Before Stem Cell Transplant
- Italy
- Netherlands
- Study on Pramipexole for Treating Restless Legs in Women with X-linked Adrenoleukodystrophy
- Long-term Safety and Efficacy Study of Elivaldogene Autotemcel for Patients with Cerebral Adrenoleukodystrophy
- Study on the Safety and Effectiveness of SBT101 Gene Therapy for Adults with Adrenomyeloneuropathy
- Poland
- Spain
Study of drug interactions between leriglitazone, gemfibrozil, itraconazole, and carbamazepine and food effects in healthy male volunteers for adrenoleukodystrophy treatment
This study is testing leriglitazone, an investigational medication being developed for treatment. The trial examines how this drug interacts with other commonly used medications and how food affects its absorption in the body.
Who can participate: The study is looking for healthy male volunteers between 18 and 50 years old with a Body Mass Index between 18 and 30. Participants must be in good health with no significant medical conditions based on physical examinations and laboratory tests. Male participants must agree to use condoms during sexual activity with partners who can become pregnant and ensure their partners use effective birth control for at least 90 days after treatment. They must also avoid alcohol, caffeine, and foods containing methylxanthine (such as coffee, tea, cola, chocolate, and energy drinks) for three days before and during their stay at the research center.
Who cannot participate: The study excludes anyone with a history of significant medical conditions affecting the heart, liver, kidneys, nervous system, or mental health. People who smoke or use nicotine products, have a history of drug or alcohol abuse within the past two years, or regularly consume more than two alcoholic drinks per day are not eligible. Those who have participated in other clinical trials within the past 30 days or have known allergies to similar medications also cannot join.
What the study involves: The trial is divided into four parts. In the first three parts, participants receive leriglitazone along with one of three medications: gemfibrozil (used to lower blood fats), itraconazole (an antifungal medication), or carbamazepine (used to treat epilepsy and nerve pain). In the fourth part, researchers study how taking leriglitazone with a high-fat meal affects how the body processes the medication. Throughout the study, participants undergo regular health monitoring including blood tests, heart recordings, and vital signs measurements.
Medications being tested: The main investigational drug is leriglitazone, given as an oral suspension. The study also examines its interactions with gemfibrozil, itraconazole, and carbamazepine.
Study on Pramipexole for Treating Restless Legs in Women with X-linked Adrenoleukodystrophy
This trial focuses specifically on women with X-linked adrenoleukodystrophy who experience restless legs syndrome. The study aims to understand how common restless legs syndrome is in this population and whether pramipexole can help improve leg movement symptoms, sleep quality, and walking ability.
Who can participate: The study is looking for women aged 18 or older with a confirmed diagnosis of X-linked adrenoleukodystrophy. For the second phase of the study, participants must have participated in the first phase and have a diagnosis of restless legs syndrome with a score greater than 15 on the International Restless Legs Scale. Participants must be willing to follow study procedures and provide written informed consent. Women of childbearing potential must use adequate contraception methods.
Who cannot participate: Men cannot participate in this study as it focuses exclusively on women. Individuals without a confirmed diagnosis of X-linked adrenoleukodystrophy or restless legs syndrome are not eligible.
What the study involves: The study lasts up to 16 weeks and involves taking pramipexole tablets by mouth. Researchers will monitor changes in sleep patterns, mood, quality of life, and walking ability. Some participants may receive a placebo to help compare the effects. The study includes assessments of total sleep time, sleep latency (how long it takes to fall asleep), time awake after falling asleep, and various physical function tests.
Medications being tested: The study uses pramipexole (marketed as Viatris), a medication that mimics the action of dopamine in the brain to help control movement and reduce leg discomfort.
Study on the Effects of Dimethyl Fumarate for Patients with Adrenomyeloneuropathy
This trial is testing whether dimethyl fumarate can improve the condition of patients with adrenomyeloneuropathy, a form of the disease that primarily affects the spinal cord and leads to progressive leg stiffness and weakness.
Who can participate: Men and women aged 18 to 65 years old with adrenomyeloneuropathy are eligible. Participants must have elevated levels of very long-chain fatty acids in their blood and a specific mutation in the ABCD1 gene. They should show signs of movement problems in the lower limbs with an Expanded Disability Status Scale score between 2.0 and 6.5. Brain scans should be either normal or show changes typical of the condition without severe damage (Loes score of 4 or less, or stable damage with a score of 12 or less). Those with adrenal insufficiency must be receiving appropriate steroid treatment. Participants must be able to attend all scheduled appointments and provide written informed consent.
Who cannot participate: People with conditions other than adrenomyeloneuropathy or those outside the specified age range cannot participate. Vulnerable populations requiring special protection are also excluded.
What the study involves: The study lasts 36 months. Participants receive either dimethyl fumarate (480 mg per day) or a placebo in the form of gastro-resistant tablets that dissolve in the intestines. Assessments include walking tests (2 Minute Walk Test and 6 Minute Walk Test), balance tests, strength measurements, stair climbing ability, and questionnaires about bladder and bowel function. Brain MRI scans and blood tests to measure markers of nerve damage and inflammation are also conducted at regular intervals at months 6, 12, 24, and 36.
Medications being tested: Dimethyl fumarate, taken as gastro-resistant tablets, works by activating a cellular pathway that helps protect cells from oxidative stress.
Study on the Effects of Leriglitazone for Adult Men with Cerebral Adrenoleukodystrophy
This study evaluates whether leriglitazone can help increase survival and slow disease progression in adult men with the cerebral form of the disease, which affects the brain.
Who can participate: The study is looking for adult men (18 years or older) with a confirmed genetic diagnosis of X-linked adrenoleukodystrophy who have progressive cerebral disease shown by specific brain changes on MRI scans. Participants should not be recommended for or willing to undergo hematopoietic stem cell transplant. They must have a Loes score (measuring brain changes) between 0.5 and 12 at the start of the study. Participants should not have major functional disabilities except for being wheelchair-bound or having total incontinence, and should not have major cognitive impairment. Those with adrenal insufficiency must be on appropriate steroid treatment. Men who are not surgically sterilized must agree to use adequate contraception during sexual intercourse with partners who are or could become pregnant and not donate sperm from the first dose until at least 90 days after the last dose.
Who cannot participate: Females cannot participate as this study focuses on male patients. Those without cerebral adrenoleukodystrophy or outside the specified criteria are not eligible.
What the study involves: Participants are randomly assigned to receive either leriglitazone or a placebo, both given as an oral suspension. The study tracks survival and the time until participants become bedridden or require permanent ventilatory support. Regular assessments include tests for cognitive function, physical abilities, quality of life measures, and brain function through MRI scans.
Medications being tested: Leriglitazone, administered as an oral suspension, is being studied for its potential to increase survival in patients with cerebral disease.
Long-term Safety and Efficacy Study of Elivaldogene Autotemcel for Patients with Cerebral Adrenoleukodystrophy
This long-term follow-up study monitors patients who have already received elivaldogene autotemcel (also called Lenti-D) in previous trials. The treatment uses the patient’s own blood stem cells, which are modified to include a healthy version of the faulty gene and then infused back into the patient.
Who can participate: Only male patients with cerebral adrenoleukodystrophy who have already received Lenti-D treatment in previous related studies are eligible. Written informed consent must be provided by the patient or their parent/legal guardian, and if applicable, the patient must also provide written assent.
Who cannot participate: Females cannot participate. Only those who received the treatment in the parent clinical studies are eligible for this follow-up study.
What the study involves: Participants are followed for up to 15 years after their initial treatment. The study monitors long-term safety and effectiveness, tracking survival without major functional disabilities. Regular assessments identify any new or worsening health conditions such as cancers, immune-related issues, or neurological disorders. The study includes interim analyses after 5 and 10 years, monitoring neurological function scores and brain MRI scans showing gadolinium enhancement. The study is expected to conclude by August 31, 2038.
Medications being tested: Elivaldogene autotemcel (eli-cel) is a gene therapy product delivered through a one-time intravenous infusion, providing a functional copy of the ABCD1 gene to help break down very long-chain fatty acids that accumulate in the brain.
Study on the Effects of Leriglitazone in Male Children with Cerebral X-Linked Adrenoleukodystrophy Before Stem Cell Transplant
This study investigates whether leriglitazone (called MIN-102 in this trial) can slow disease progression in young boys with the cerebral form before they undergo stem cell transplant.
Who can participate: Male children aged 2 to 12 years old with X-linked adrenoleukodystrophy are eligible. Diagnosis must be confirmed through genetic testing or, if unavailable, by elevated very long-chain fatty acid levels and a family history with clinical symptoms. Participants must have white matter involvement in the brain shown on MRI scans. They should have no major functional disabilities (MFD score of 0), a baseline Loes score greater than 0 and up to 10, and a Gadolinium Intensity Score of 3 or less. Participants must not show signs of adrenal insufficiency, or if present, it must be managed with appropriate steroid replacement with morning cortisol and aldosterone levels within normal ranges. Glycated hemoglobin levels must be within the normal range. Written informed consent must be provided by a parent, legal guardian, or authorized representative.
Who cannot participate: Females cannot participate. Children outside the specified age range or without the specific condition are not eligible.
What the study involves: Participants receive MIN-102 as an oral suspension medication. The study lasts 96 weeks and aims to assess whether the treatment can stop disease progression. This is determined through regular clinical evaluations and MRI scans. Assessments include neurological function scores, MRI severity scores, and monitoring of overall survival without undergoing stem cell transplant. The study is estimated to conclude by February 19, 2025.
Medications being tested: MIN-102 (leriglitazone) is administered orally and is being studied for its potential to slow or stop the progression of cerebral disease in children, aiming to stabilize or improve neurological function before potential stem cell transplant.
Study on the Safety and Effectiveness of SBT101 Gene Therapy for Adults with Adrenomyeloneuropathy
This trial tests a gene therapy called SBT101 for adults with adrenomyeloneuropathy, the form affecting the spinal cord. The treatment delivers a healthy copy of the gene directly into the space around the spinal cord.
Who can participate: Male adults aged 18 to 65 years with a diagnosis of X-linked adrenoleukodystrophy confirmed by genetic testing showing an ABCD1 gene mutation and supported by past tests showing high very long-chain fatty acid levels are eligible. Participants must show signs of spinal cord involvement with an EDSS score between 1 and 4.5 and a pyramidal function score of at least 1. They must agree to use two forms of birth control and not donate sperm for at least 6 months after the procedure. If receiving other treatments for the condition (such as antioxidants, Lorenzo’s oil, statins, or physical rehabilitation), these must have been stable for at least 4 weeks before the study and must continue at the same dose during the initial study period. Written informed consent is required before any study procedures.
Who cannot participate: Females and individuals under 18 years old cannot participate. Those with conditions other than adrenomyeloneuropathy or belonging to vulnerable populations are excluded.
What the study involves: SBT101 is a one-time treatment given through an injection into the spinal canal (intrathecal administration). The therapy uses a specially designed virus (AAV9) to deliver a healthy copy of the ABCD1 gene to the patient’s cells. Participants are monitored for safety and adverse effects, with particular focus on serious events related to SBT101. Follow-up assessments include the 6-minute Walk Test, 2-minute Walk Test, and other physical tests at 12 and 24 months. Long-term evaluation continues up to 60 months to assess safety, efficacy, changes in physical abilities, balance, and overall health.
Medications being tested: SBT101 is a gene therapy using an adeno-associated viral vector (AAV9) containing the human ABCD1 gene, delivered through intrathecal injection to potentially improve symptoms or slow disease progression.
Summary
The seven ongoing clinical trials for adrenoleukodystrophy reflect a diverse research landscape targeting different forms of the disease and patient populations. A notable concentration of trials is taking place in France, Germany, and Spain, each hosting three studies, while the Netherlands hosts two. This geographical distribution suggests strong research infrastructure and expertise in these countries for treating rare genetic disorders.
Several investigational approaches are being studied. Leriglitazone appears in four separate trials, making it the most frequently tested medication across different patient populations, including adult men, male children, and healthy volunteers for drug interaction studies. Gene therapy approaches are represented by two trials: elivaldogene autotemcel (Lenti-D), which modifies patients’ own stem cells, and SBT101, which delivers the therapeutic gene directly into the spinal canal. Additional trials are evaluating dimethyl fumarate for adrenomyeloneuropathy and pramipexole specifically for women experiencing restless legs syndrome.
The trials demonstrate attention to different disease forms, with cerebral adrenoleukodystrophy being the focus of four studies, adrenomyeloneuropathy featured in three trials, and one study addressing symptom management in female carriers. Long-term follow-up is emphasized in the elivaldogene autotemcel study, which monitors participants for up to 15 years, reflecting the importance of understanding lasting treatment effects in this chronic genetic condition.
