Here at Cure MLD, we all remember the day we heard the words metachromatic leukodystrophy for the first time. We understand how powerful those feelings of fear, grief and rage are.  Cure MLD exists because we want to offer the support, guidance and hope for you and your family.


There is no denying how challenging the first days and months after diagnosis are, but we promise that you will able to lead a life that has room for happiness and joy after MLD “intrudes” on your life.


The good news is that breakthroughs in treatments are offering new hope to families. We are working every day to care MLD, and we believe a cure is going to happen in our lifetime. For more information and to contact someone who has been in your shoes, please contact

Getting more information on clinical trials, treatment, and care for metachromatic leukodystrophy


You have now found the Cure MLD website on your Google search. We recommend you stop messing around with the internet since so much of the information out there is out of date and confusing. Because the research is so fast moving and because much of it is not published, many medical sites, even ones you could normally trust, will give you an inaccurate and often skewed perspective on what to expect.


You are probably looking for information on yours or your child’s future, which your local doctor cannot give. Please read the rest of this page because our intention is that it will direct you towards resources you need. We are here to help and there is an entire network of organizations and parents or patients like you who want to support you through this.


Please reach out for an information packet and for a care package for families and patients newly diagnosed with leukodystrophy.


I would like to speak to a Cure MLD Ambassador Outreach Coordinator  to get information about how to care for myself or a loved one. 


I just found out that I or a loved one has MLD.  What’s going to happen?

This is what you most want to know and the truth is only a doctor with extensive experience with MLD will be able to give you a good idea or direct you to finding the most efficacious clinical trial available. We have resources on Cure MLD that will help you learn about others’ experiences and what clinical trials are available but each and every case will be different depending on the age of the patient and how advanced the disease is. This information is not intended to replace the medical advice of a doctor experienced with treating MLD.


It probably seems overwhelming to think of traveling right now to find the right doctor, such as one of the leukodystrophy clinics recommended here. Don’t worry and realize that it’s not all on you. These clinics are experienced with dealing with patients in your situation and can help you plan your trip. There are also organizations and grants to defray your traveling costs. For assistance, contact one of our family ambassadors who can point you in the right direction

Getting information:

One of the fastest ways to learn about MLD and treatment options is to enroll in the MLD natural history study at the Children’s Hospital of Philadelphia (CHOP).


There is no travel or cost associated with the natural history study. Sharing your medical records with specialists at CHOP (who work with pediatric and adult patients) can help answer your questions and get you access to resources and information you need to help your loved one impacted by MLD.

CHOP Leukodystrophy Center

Online Referral Survey

What are the treatment options for MLD?  

We have no cure for MLD, for now, but research and treatment breakthroughs are occurring at a rapid pace.


We are committed to supporting continuing research to treat symptomatic and non-symptomatic patients, to providing resources and newborn screening so that patients are diagnosed as soon as possible to benefit from treatment, and to providing resources to doctors and loved ones caring for those with MLD. Current therapies cannot reverse neurological damage and have mixed results in slowly progressing so unfortunately they are most effective in patients whose symptoms are in the early stages or who have been diagnosed by testing after an older sibling showed symptoms.


There are very effective treatments for pre-symptomatic children, including gene therapy, (New promise of Gene Therapy) and there are a growing number of treatment options for symptomatic patients, such as an experimental enzyme replacement therapy.

  • Enzyme replacement therapy (or ERT) uses a weekly infusion of the arylsulfatase A enzyme their body is not producing. This treatment is available to symptomatic late-infantile MLD patients. You can learn more about the Takeda clinical trial here.  This treatment is only available to late-infantile MLD patients. At this writing, the only trial site open is in Chicago, and this means families interested in the treatment will need to relocate to participate. The study requires surgery and weekly infusions of the treatment over the span of several months. 


  • Gene therapy to treat MLD is being advanced by Orchard Therapeutics in a clinical trial. It has been used to treat pre-symptomatic late-infantile MLD and select early juvenile patients.  However, only patients diagnosed before they show symptoms are eligible for the Orchard Therapeutics clinical trial. At this time, the majority of children treated with gene therapy have been the younger siblings of children diagnosed with late infantile onset  MLD. Orchard Therapeutics expects to file with the EMA (the EU’s regulatory authorities in 2020), and in 2021, we expect Orchard to seek approval with the FDA.  This treatment is only available to late-infantile MLD patients.  There is also a clinical trial in China that provides gene therapy to patients.  You can learn more about the work of Shenzhen Geno-immune Medical Institute (GIMI), Shenzhen, China by contacting Dr. Lung-Ji Chang at the Shenzhen Geno-immune Medical Institute (GIMI) at  Please note CureMLD has not referred patients to this trial and there is no published data on the effectiveness of this treatment. 


  • Bone marrow and stem cell transplants have been used around the world for at least two decades to treat pre-symptomatic patients and those with little disease progression. Because they typically use more aggressive chemotherapy and have mixed results in stopping disease progression, many patients prefer gene therapy if they qualify for a clinical trial. These transplants are currently the only treatment option available for some older MLD patients.  We expect to see more treatment options for adult patients very soon.  


Since these treatment options are still only clinical trials, you should have your doctors reach out to the researchers to determine if your loved one meets eligibility criteria.  Sadly, not all patients will get to participate, but our community is grateful for the fact that these clinical trials are available and represent such hope and progress for people living with MLD.


You can find more information on treatment options on the Support and Resources page or by clicking on any of the links above.


For MLD patients who are not elgible for gene therapy and want to learn more about a bone marrow or stem cell transplant, we recommend you contact Dr. Maria Escolar at the Children’s Hospital of Pittsburgh, Dr. Joanne Kurtzberg at Duke University Medical Center, or Dr. Paul Orchard at the University of Minnesota to learn more about these treatment options for your loved one.   If you pursue a bone marrow or stem cell transplant, we can arrange for a family who has undergone such treatments to contact you and share their experiences.

You are not alone, please contact us and we will have a family ambassador contact you.

We will also send you and your loved one a special care package that includes Loie’s Disease, a children’s book to explain leukodystrophy to children, and the “Living with Leukodystrophy” medical resource guide.

Contact Us

PO Box 2866

Bala Cynwyd PA

19004 USA

We are grateful for the support of our friends and partners:

Support for Cure MLD comes from an unrestricted grant from Orchard Therapeutics. 

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