The Latest Update on Metachromatic Leukodystrophy: Screening, Diagnosis, and Emerging Treatments to Improve Quality of Life of Patients


Florian S. Eichler, MD
Director, Center for Rare Neurological Disease
Associate Professor of Neurology
Massachusetts General Hospital, Harvard Medical School, Boston, MA
Florian S. Eichler, MD

Florian S. Eichler, MD, is an Associate Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. He is the Director of the Leukodystrophy Service, the Center for Rare Neurological Diseases at MGH, and the Mass General Brigham Neurogenetics and Gene Therapy Fellowship. He runs a laboratory at MGH that explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. To develop novel treatments, his laboratory assesses the consequences of disease-causing genes. The laboratory identified two neurotoxic desoxysphingoid bases that accumulate in mutant transgenic mice and humans with hereditary sensory neuropathy type 1 (HSAN1). This work led to the first clinical trial of substrate supplementation therapy for patients with HSAN1 (NCT01733407).

Dr Eichler is the principal investigator of several NIH-funded studies on neurogenetic disorders as well as a gene therapy trial of adrenoleukodystrophy (NCT01896102) that reported on first successful outcomes in the New England Journal of Medicine. For this work, he received the Martin Research Prize from MGH and the Herbert Pardes Clinical Excellence Award from the Clinical Research Forum.

Laura A. Adang, MD, PhD
Assistant Professor of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, PA
Laura A. Adang, MD, PhD

Dr. Laura Adang is an Assistant Professor of Child Neurology at the Children’s Hospital of Philadelphia specializing in the care of children with leukodystrophies. Dr. Adang is a magna cum laude graduate of the University of Georgia’s Foundation Fellowship scholarship program and a graduate of the Medical Scientist Training Program at the University of Virginia, where she received both her MD and PhD. Her graduate work in the laboratory of Dean H. Kedes, MD, PhD characterized the immune evasion mechanisms of herpesvirus infections. Her work has been published in NEJM, Cell, and Journal of Clinical Investigations among others.

After graduating from the University of Virginia, she completed her pediatrics and child neurology residencies at the Children’s Hospital of Philadelphia and the University of Pennsylvania. She completed additional fellowship training in multiple sclerosis and leukodystrophies and a Masters of Translational Research at the Institute for Translational Medicine and Therapeutics (ITMAT) of the Perelman School of Medicine at the University of Pennsylvania. Her primary research focus is clinical trial readiness for leukodystrophies, including metachromatic leukodystrophy.

Rachel E. Hickey, MS, LCGC
Genetic Counselor, Care Coordinator of Leukodystrophy Clinic
Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL
Rachel E. Hickey, MS, LCGC

Rachel received her Master of Science in Genetic Counseling from the University of South Carolina School of Medicine in May 2017 and was certified by the American Board of Genetic Counseling (ABGC) in August 2017. Rachel completed a genetic counseling fellowship in lysosomal storage diseases at Ann & Robert H. Lurie Children’s Hospital, focusing on diagnosis, management, treatment, and newborn screening for this group of complex diseases.

She currently provides genetic counseling services in the pediatric setting, continuing to specialize in lysosomal storage diseases as well as general genetics. She serves as the clinic coordinator for the Leukodystrophy Clinic at Lurie Children’s Hospital and is the primary coordinator for this center’s Krabbe Disease and X-Linked Adrenoleukodystrophy Newborn Screening Programs.

Statement of Need

Current and emerging therapies and treatment approaches can offer symptom relief and improved quality of life for patients with metachromatic leukodystrophy (MLD). But given MLD’s rarity and health care professionals’ lack of familiarity with the disease and its treatment, diagnosis is often inaccurate or delayed, negatively impacting outcomes.

During this 90-minute enduring material, expert panelists will discuss biomarkers that identify patients at the pre-symptomatic phase of the disease and share knowledge about caring for patients with MLD.

Learning Objectives

At the end of this CME/CE activity, participants should be able to:

  • Review the impact of diagnostic delay and misdiagnosis on patients with MLD.
  • Indicate strategies for identifying patients with MLD at the pre-symptomatic phase of disease.
  • Implement early screening for patients with suspected MLD based on symptoms and clinical presentations.
  • Evaluate efficacy and safety of emerging therapies for MLD.

Financial Support

Supported by an educational grant from Takeda Pharmaceuticals U.S.A., Inc.

Target Audience

Physicians, physician associates (PAs), nurse practitioners (NPs), nurses and pharmacists specializing in genetics, metabolism, neurology, pediatrics, internal medicine and/or primary care

Credit Information

Jointly Accredited Provider

In support of improving patient care, CME Outfitters, LLC, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Interprofessional (IPCE) 1.5

This activity was planned by and for the healthcare team, and learners will receive 1.5 Interprofessional Continuing Education (IPCE) Credit for learning and change.

Physicians (ACCME) 1.5

CME Outfitters, LLC, is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. CME Outfitters, LLC, designates this enduring activity for a maximum of 1.5 AMA PRA Category 1 Credit(s). Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Nurses (ANCC) 1.5

This activity is designated for 1.5 contact hours.

Note for California Nurses

This continuing nursing education activity was approved by the California Board of Registered Nursing. CME Outfitters, LLC’s provider number is CEP15510.

Pharmacists (ACPE) 1.5

This application-based activity is approved for 1.5 contact hours (0.15 CEUs) of continuing pharmacy credit.
UAN: JA0007185-0000-22-104-H01-P

PAs (AAPA) 1.5

CME Outfitters, LLC, has been authorized by the American Academy of PAs (AAPA) to award AAPA Category 1 CME credit for activities planned in accordance with AAPA CME Criteria. This activity is designated for 1.5 AAPA Category 1 CME credits. Approval is valid until expiration date listed above. PAs should only claim credit commensurate with the extent of their participation.


Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.50 medical knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program. Participants will earn MOC points equivalent to the amount of CME credits claimed for the activity. It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.

MIPS Improvement Activity

Completion of this accredited CME activity meets the expectations of an Accredited Safety or Quality Improvement Program (IA_PSPA_28) for the Merit-based Incentive Payment Program (MIPS). Clinicians should submit their improvement activities by attestation via the CMS Quality Payment Program website.

Royal College MOC

Through an agreement between the Accreditation Council for Continuing Medical Education and the Royal College of Physicians and Surgeons of Canada, medical practitioners participating in the Royal College MOC Program may record completion of accredited activities registered under the ACCME’s “CME in Support of MOC” program in Section 3 of the Royal College’s MOC Program.

Disclosure Declaration

It is the policy of CME Outfitters, LLC, to ensure independence, balance, objectivity, and scientific rigor and integrity in all of their CE activities. Faculty must disclose to the participants any relationships with commercial companies whose products or devices may be mentioned in faculty presentations, or with the commercial supporter of this CE activity. CME Outfitters, LLC, has evaluated, identified, and mitigated any potential conflicts of interest through a rigorous content validation procedure, use of evidence-based data/research, and a multidisciplinary peer review process.

Dr. Eichler reports the following financial relationships: Advisory Board: Bluebird Bio, Inc. and SwanBio Therapeutics, Inc. Consultant: Autobahn Therapeutics; Poxel S.A.; SwanBio Therapeutics, Inc.; Takeda Pharmaceuticals U.S.A., Inc.; Taysha Gene Therapies; and UpToDate, Inc. Grants: European Leukodystrophy Association; National Institute of Neurological Disorders and Stroke (NINDS); and Undiagnosed Disease Network (UDN). Research Support: Aspa Therapeutics; Bluebird Bio, Inc.; and Sio Gene Therapies. Speakers Bureau: American Society for Gene and Cell Therapy (ASGCT) and PRIME Education, LLC. Stock Shareholder (ownership interest): SwanBio Therapeuitics, Inc. Other Financial or Material Support: UpToDate, Inc. Authorship Fees

Dr. Adang reports the following financial relationships: Consultant: MEGMA; Orchard Therapeutics; and Takeda Pharmaceuticals U.S.A., Inc. Grants: MSD Action Foundation; National Center for Advancing Translational Sciences (NCATS); National Institute of Neurological Disorders and Stroke (NINDS); and The Family Foundation.

Ms. Hickey reports no financial relationships to disclose.

The following peer reviewer and CME Outfitters staff have no financial relationships:

  • Jeffrey Helfand, DO (peer reviewer)
  • Thomas Mitchell (planning committee)
  • Kellie Busby, PharmD (planning committee)
  • Susan H. Yarbrough, CHCP (planning committee)
  • Sandra Caballero, PharmD (planning committee)
  • Sharon Tordoff (planning committee)

Faculty of this CE activity may include discussions of products or devices that are not currently labeled for use by the FDA. The faculty have been informed of their responsibility to disclose to the audience if they will be discussing off-label or investigational uses (any uses not approved by the FDA) of products or devices.

Obtaining Credits

Post-tests, credit request forms, and activity evaluations must be completed online (requires free account activation), and participants can print their certificate or statement of credit immediately (75% pass rate required). This website supports all browsers except Internet Explorer for Mac. For complete technical requirements and privacy policy, visit our Privacy & Confidentiality page.

Questions about this activity?

Call us at (877) CME-PROS or (877) 263-7767.



The Latest Update on Metachromatic Leukodystrophy: Screening, Diagnosis, and Emerging Treatments to Improve Quality of Life of Patients
Event Date: 10/18/2022