Metachromatic leukodystrophy (MLD) is a rare and life-threatening inherited disease characterized by the accumulation of sulfatides (fatty substances) in the cells, which causes damage to the central and peripheral nervous systems.
MLD is caused by a mutation in the arylsulfatase-A(ARSA) gene, which is responsible for encoding the enzyme arylsulfatase A (ARSA). A deficiency in ARSA leads to the buildup of sulfatides in the brain and other areas of the body, including the liver, gallbladder, kidneys, and spleen. The accumulation of sulfatides causes damage to the nervous system over time, leading to neurological problems such as motor, behavioral, and cognitive regression, severe spasticity, and seizures. Patients can gradually lose the ability to move, talk, swallow, eat, and see. In severe cases, babies develop normally but in late infancy, start to rapidly lose the ability to walk, talk, and interact with the world around them. They can eventually deteriorate into a vegetative state, and the majority pass away within five years of disease onset.
Lenmeldy (atidarsagene autotemcel) is the first FDA-approved gene therapy for MLD. It is indicated for the treatment of children with pre-symptomatic late infantile (PSLI), pre-symptomatic early juvenile (PSEJ), or early symptomatic early juvenile (ESEJ) - collectively referred to as early-onset MLD.
Lenmeldy works to correct the underlying genetic cause of MLD by inserting one or more functional copies of the human ARSA gene into the genome of a patient’s own hematopoietic stem cells using a lentiviral vector. The genetically repaired stem cells are infused back into the patient, where they engraft (attach and multiply) within the bone marrow, supplying the body with myeloid cells that produce the ARSA enzyme. Restoring enzymatic function can potentially stop or slow the progression of MLD with a single treatment.
Drugs used to treat Metachromatic Leukodystrophy
The medications listed below are related to or used in the treatment of this condition.
For ratings, users were asked how effective they found the medicine while considering positive/adverse effects and ease of use (1 = not effective, 10 = most effective).
Activity
Activity is based on recent site visitor activity relative to other medications in the list.
Rx
Prescription only.
OTC
Over-the-counter.
Rx/OTC
Prescription or Over-the-counter.
Off-label
This medication may not be approved by the FDA for the treatment of this condition.
EUA
An Emergency Use Authorization (EUA) allows the FDA to authorize unapproved medical products or unapproved uses of approved medical products to be used in a declared public health emergency when there are no adequate, approved, and available alternatives.
Expanded Access
Expanded Access is a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
Pregnancy Category
A
Adequate and well-controlled studies have failed to demonstrate a risk to the fetus in the first trimester of pregnancy (and there is no evidence of risk in later trimesters).
B
Animal reproduction studies have failed to demonstrate a risk to the fetus and there are no adequate and well-controlled studies in pregnant women.
C
Animal reproduction studies have shown an adverse effect on the fetus and there are no adequate and well-controlled studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
D
There is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience or studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
X
Studies in animals or humans have demonstrated fetal abnormalities and/or there is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience, and the risks involved in use in pregnant women clearly outweigh potential benefits.
N
FDA has not classified the drug.
Controlled Substances Act (CSA) Schedule
M
The drug has multiple schedules. The schedule may depend on the exact dosage form or strength of the medication.
U
CSA Schedule is unknown.
N
Is not subject to the Controlled Substances Act.
1
Has a high potential for abuse. Has no currently accepted medical use in treatment in the United States. There is a lack of accepted safety for use under medical supervision.
2
Has a high potential for abuse. Has a currently accepted medical use in treatment in the United States or a currently accepted medical use with severe restrictions. Abuse may lead to severe psychological or physical dependence.
3
Has a potential for abuse less than those in schedules 1 and 2. Has a currently accepted medical use in treatment in the United States. Abuse may lead to moderate or low physical dependence or high psychological dependence.
4
Has a low potential for abuse relative to those in schedule 3. It has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 3.
5
Has a low potential for abuse relative to those in schedule 4. Has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 4.
Alcohol
X
Interacts with Alcohol.
Further information
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