Are you newly diagnosed?

Finding the cure is the answer; working together is the first step. 

Take the step to join a clinical trial for leukodystrophy therapies, if you are able! Improved therapies and a cure will only be found if researchers have patients involved. With rare diseases, it is even more key to have every patient able to be involved providing assistance to the research process. Sometimes patients or caregivers are concerned about joining clinical trials because of the fear of “being a guinea pig to science.” Patients involved in clinical trials are not “guinea pigs.” They are human beings, and the researchers who rely on the patients for their participation are deeply grateful. Patients who are involved in clinical trials are first in line to receive potentially life changing, and lifesaving, treatments. Results of clinical trials also impact the future of every single person who faces a leukodystrophy diagnosis. The ULF hopes you will consider being part of clinical trials, as more become available for the leukodystrophies. 

Please refer to the link below for the most up to date information on what clinical trials are recruiting or in progress. You will need to reach out to the facilitator of the trial directly in order to determine eligibility for the trial. 

ULF Partner Clinical Trials

Below are the clinical trials that the ULF is proud to promote on behalf of our partners. If you see a clinical trial below that you believe you are eligible for, please reach out to Keely Mata, Director of Operations, at She will get you in touch with our contact for that trial. Please note: the ULF can only assist with connecting you to the trials associated with our partners below. If there is a trial on that you are interested in, you will need to reach out directly to the facilitators of the trial. 

The Guanabenz Trial for Vanishing White Matter
For more information, click here.
VGL101-01.002: A Natural History Study of Patients with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP). The main purpose of the study is to learn more about how ALSP occurs and how the disease affects patients over time. Click here for more information.
The VK0214-102 study is a randomized, double-blind, placebo-controlled study in male subjects over the age of 18 years who have the Adrenomyeloneuropathy Form (AMN) of X-linked Adrenoleukodystrophy (X-ALD). What this means is that subjects with AMN will be assigned by chance (like flipping a coin) to take the study drug, VK0214 or placebo. which looks like study drug but does not contain any study drug and neither you, the study doctor or study nurse will know whether you received the study drug or placebo until the study is completed.

Viking Therapeutics, Inc. is developing the study drug (not yet approved by the Food and Drug Administration) VK0214 as a potential new treatment for AMN, the adult-onset form of X-linked adrenoleukodystrophy (X-ALD). X-ALD is a genetic disease that results in the build-up of very long-chain fatty acids (VLCFAs) in the blood and tissues. This build-up eventually leads to destruction of the fatty covering, called myelin, that surrounds the nerves in the brain and spinal cord and causes the clinical problems that characterize the disease. VK0214 works by reducing the build-up of the VLCFAs, and in so doing, it is expected to improve the symptoms of AMN.

The purpose of this research study is to:
• Determine the safety and tolerability of multiple doses of VK0214
• Determine how VK0214 is absorbed, broken down, and eliminated by your body; also known as pharmacokinetics
• Determine the effects of VK0214 between the dose and response, i.e., the drug's effects, mainly in lowering levels of VLFAs. This evaluation of effect of a drug is also known as pharmacodynamics.

In addition, this will be the first proof of concept study to evaluate whether VK0214 treatment results in lowering plasma levels of VLCFAs in subjects with AMN. Up to 36 subjects will participate in this study at approximately 5 sites in the United States and study participation is approximately 6-8 weeks.

Click here for more information.
The Natural History Of Metachromatic Leukodystrophy (HOME) Study, hosted by NORD’s IAMRARE™ Registry Program, represents an opportunity to address an area of unmet need, providing dynamic data collection and a novel framework for building regulatory-grade rare disease natural history studies incorporating patient-reported information. For more information, click here.
OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)
OTL-200 is a cryopreserved dispersion for infusion containing autologous CD34+ cell enriched population that contains haematopoietic stem and progenitor cells (HSPC) transduced ex vivo using a lentiviral vector encoding the human arylsulfatase A (ARSA) gene. MLD is an autosomal recessive lysosomal storage disorder (LSD) characterized by severe and progressive demyelination affecting the central and peripheral nervous system. The aim of this clinical study is to assess the pharmacodynamic effect and long-term clinical efficacy and safety of OTL-200 in Late Juvenile MLD patients.
Bluebird Bio
Bluebird Bio, inc.: ALD-104, Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
CYGNET: A natural history study of Adult men with Adrenomyeloneuropathy (AMN). A prospective, retrospective, multicenter, observational study of disease progression in adults with inherited forms of spastic paraplegia.
Minoryx Therapeutics
Minoryx (Europe): An exploratory, open-label, multicenter study in male pediatric patients with cerebral X-linked Adrenoleukodystrophie (cALD) to assess the effect of MIN-102 treatment on the progression of cerebral X-linked Adrenoleukodystrophie (cALD).
Children's Hospital of Philadelphia
Children's Hospital of Philadelphia: Once enrolled, we will work closely with each family to explore additional resources that may be of interest, including opportunities through their local GLIA-CTN study site. Note that we are actibely recruiting participants for other GLIA-CTN natural history studies, as well, including 4H, Alexander Disease, ALD/AMN, AGS, MLD, and PMD.
Travere Therapeutics
Study to Evaluate Patients With Cerebrotendinous Xanthomatosis
The study is made up of two cohorts: a randomized double-blind crossover (placebo withdrawal with rescue) study among patients ≥ 16 years of age (adult cohort) and an open-label dose titration study among pediatric patients ≥1 month and <16 years of age (pediatric cohort)
Travere Therapeutics
Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
This is an observational, multicenter study to determine the prevalence of Cerebrotendinous Xanthomatosis (CTX) in patient populations diagnosed with early-onset idiopathic bilateral cataracts. Patients who are potentially eligible for study participation will be identified through a chart review of patients who were seen at each study site prior to that site's initiation, or by entering care at the site while the site is participating in the trial.
Travere Therapeutics
The REPLACE Registry for Cholbam®/Kolbam® (Cholic Acid)
This is a prospective, observational, non-interventional patient registry designed to document long term safety and clinical outcomes for 10 years in patients treated with Cholbam/Kolbam, including those who have been using Cholbam/Kolbam and those who start Cholbam/Kolbam treatment at enrollment.
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