Clinical Research Studies

Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

• Conditions:
  Metachromatic Leukodystrophy
• Age: Between 18 years - 72 years
• Gender: Male or Female

• Other Inclusion Criteria:
  

  1. Subjects must have a documented diagnosis of MLD
  2. Subjects must have a gait disorder due to spastic ataxia or weakness attributed to MLD by the investigator and documented by a pediatric neurologist or medical geneticist by 30 months of age (Groups A-C) or presymptomatic (Group D)
  3. Parent and/or legal guardian is able to read, understand, and sign the informed consent.
  4. Subjects and their parent/representative(s) must have the ability to comply with the clinical protocol

  Matched Historical control:

  1. Subjects must have a documented diagnosis of MLD
  2. Subjects must have a gait disorder due to spastic ataxia or weakness attributed to MLD by the investigator and documented at baseline
  3. Subjects must have at least 2 motor assessments by GMFC-MLD with the second assessment occurring at approximately 106 (±6) weeks after the first assessment or else a second assessment measured before Week 100 with a GMFC-MLD level 5 or 6.

  
  

You may not be eligible for this study if the following are true:

• 1. Subjects with multiple sulfatase disorder as determined by abnormal activity of another lysosomal sulfatase
  2. Subjects with history of hematopoietic stem cell transplantation (HSCT) or gene therapy or undergoes HSCT or gene therapy at any point during the study
  3. Subjects who have initial presentation of behavioral or cognitive symptoms of MLD
  4. Subjects who have any known or suspected hypersensitivity to agents used for anesthesia or has history of difficult airway or potential for airway compromise
  5. Subjects with any other medical condition or serious comorbid illness that in the opinion of the investigator would preclude participation in the study
  6. Subjects who are enrolled in another clinical study that involves use of any investigational product (drug or device) within 30 days prior to study enrollment or at any time during the study
  7. Subjects with a condition that is contraindicated as described in the SOPH-A-PORT Mini S IDDD Instructions for Use (IFU)

  Matched historical controls:

  1. Subjects with history of hematopoietic stem cell transplantation (HSCT) or gene therapy or undergoes HSCT or gene therapy at any point during the study
  2. Subjects who have initial presentation of behavioral or cognitive symptoms of MLD (per investigator’s clinical judgment)
  3. Subjects are enrolled in another clinical study that involves use of any investigational product (drug or device)