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Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living with Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidoses

Overview

About this study

The objectives of this study are to prospectively characterize the progression of neurological domains of major interest (gait abnormalities, difficulties with balance, and speech difficulties) through disease-specific adaptation of available generic neurological rating tools that will be used as therapeutic outcome measures for emerging therapies, to produce well characterized natural history cohorts of patients with GM1 and GM2 gangliosidoses to serve as external controls for new experimental therapy trials, and to develop a disease progression model able to identify clusters of disease progression and predict disease trajectory.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Genetically confirmed diagnosis of GM1 gangliosidosis or genetically confirmed diagnosis of Tay-Sachs or Sandhoff disease.
  • Onset of neurological symptoms on or after the patient’s first birthday.
  • Achieved 12-month developmental milestones at normal developmental time points as per Principal Investigator’s judgement.
  • Abnormal gait and/or speech disturbance, defined as a SARA Gait score and/or SARA Speech disturbance score of ≥ 1 at baseline (or at patient’s last examination performed during a clinical routine visit).
  • Age 2-20 years at baseline.
  • Willing and able to complete (part of the) protocol assessments.
  • Patient and/or legal guardian is able to read, understand, and sign the informed consent. Where appropriate, assent will also be sought for patients < 18 years of age.

Exclusion Criteria:

  • Patients will be excluded from participation if they have received (within 6 months before screening), are currently receiving, or are planned to receive (within the next 6 months) gene therapy, stem cell transplantation, experimental drugs, or any drug, which, in the Investigator´s opinion, may (have) interfere(d) with disease progression.

Eligibility last updated 8/31/21. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Marc Patterson, M.D.

Open for enrollment

Contact information:

Precylla Ruiz

(507) 538-6606

Ruiz.Precylla@mayo.edu

More information

Publications

Publications are currently not available

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CLS-20529147

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