Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A multinational multicenter open-label rater-blinded Phase II study.

Are you eligible to participate in this study?

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

  • Conditions:
    Gm2 Gangliosidosis
  • Age: Between 18 - 99 Years
  • Gender: Male or Female
  • Other Inclusion Criteria:
    1. Subjects who are at least 18 years old
    2. Subjects with confirmed diagnosis of GM2 Gangliosidosis, able to understand and sign a written informed consent form (ICF)
    3. Females of childbearing potential, defined as a premenopausal female capable of becoming pregnant, will be included if they are either sexually inactive or using highly effective contraceptives 14 days prior to the first dose continuing through 28 days after the last dose
    4. Female of non-childbearing potential must have undergone sterilization procedures as per the protocol at least 6 months prior to the first dose
    5. Females of childbearing potential and males participating in the study must agree to use at least 2 approved methods of contraception throughout the duration of the study and for 30 days after stopping study drug.
    6. Non-vasectomized male patient agrees to use a condom with spermicide or abstain from sexual intercourse during the study until 90 days beyond the last dose of study medication and the female partner agrees to comply with inclusion criteria 3 or 4.
    7. If male, subjects agrees not to donate sperm from the first dose until 90 days after their last dose.
    8. Subjects weigh =15 kg at screening.
    9. Subjects are willing to disclose their existing medications/therapies for (the symptoms) of GM2 Gangliosidosis, including those on the prohibited medication list.

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

    1. Asymptomatic subjects
    2. Subjects who have clinical features of Tay-Sachs disease or Sandhoff disease, but a completely negative result on a previous genetic test for GM2 Gangliosidosis caused by ß-hexosaminidase deficiency resulting from mutations in the HEXA or HEXB genes
    3. Subjects who have any of the following:
      • Chronic diarrhea
      • Unexplained visual loss
      • Malignancies;
      • Insulin-dependent diabetes mellitus
      • Known history of hypersensitivity to the Acetyl-Leucine (DL-, L-, D-) or derivatives
      • History of known hypersensitivity to excipients of Ora-Blend
    4. Subjects participating simultaneously in another clinical study
    5. Subjects with a physical or psychiatric condition which, at the investigator’s discretion, may put the patient at risk, may confound the study results, or may interfere with the patient’s participation in the clinical study n
    6. Subjects with known or persistent use, misuse, or dependency of medication, drugs, or alcohol
    7. Current or planned pregnancy or women who are breastfeeding.
    8. Subjects with severe vision or hearing impairment
    9. Subjects who have been diagnosed with arthritis or other musculoskeletal disorders affecting joints, muscles, ligaments, and/or nerves that by themselves affects patient’s mobility and, at the investigator’s discretion, interferes with their ability to perform study assessments.
    10. Subjects willing and/or not able to undergo a 6-week washout period from any of the prohibited medication (in the protocol) prior to Visit 1 (Baseline 1) and remain without prohibited medication through Visit 6.



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