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A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis

NCT00679744 · Status: WITHDRAWN · Phase: PHASE1 · Type: INTERVENTIONAL

Last updated 2013-02-25

No results posted yet for this study

Summary

Adult Tay-Sachs disease and Sandhoff diseases are caused by deficiency of an enzyme called β-hexosaminidase A, or Hex A in short. This enzyme is located in a particular cellular component, called lysosomes, inside the brain cells. The reason that Hex A of patients with Adult Tay-Sachs disease or Sandhoff disease is deficient is because this enzyme had gone through mutation, resulting in it not working very well. In healthy people, Hex A efficiently breaks down GM2-ganglioside, which is a by-product from cells of our body. However, patients with Adult Tay-Sachs disease or Sandhoff disease cannot efficiently break down GM2-ganglioside in the body. Therefore, these patients have high levels of this by-product in the brain cells, which causes the brain to be unable to function normally.

There is a drug called Pyrimethamine. This drug is used by doctors to treat specific types of infections called malaria and toxoplasmosis. Our laboratory test tube studies have shown that Pyrimethamine can help the Hex A enzyme to function in a normal manner. If Hex A can function normally in presence of Pyrimethamine, this drug should be able restore the brain malfunction of these patients since Hex A can now efficiently break down GM2-ganglioside with Pyrimethamine treatment.

Although results from laboratory test tube studies are promising and Pyrimethamine should theoretically restore brain function of these patients, we do not know if Pyrimethamine is safe or if it would actually work in patients. This study is the first study (a Phase I study) of testing Pyrimethamine to treat Adult Tay-Sachs and Sandhoff diseases. The objective of this study is to see if Pyrimethamine is safe in these patients and to see if it can restore the brain function of these patients.

Conditions

  • G(M2) Ganglioside
  • Tay-Sachs Disease Ganglioside
  • Sandhoff Disease Ganglioside

Interventions

DRUG

Pyrimethamine

Pyrimethamine will be given PO once daily for 8 consecutive weeks.

Sponsors & Collaborators

  • University Hospitals Cleveland Medical Center

    collaborator OTHER

  • NYU Langone Health

    collaborator OTHER

  • The Hospital for Sick Children

    collaborator OTHER

  • Exsar Corporation

    lead INDUSTRY

Principal Investigators

  • Bijan Almassian, Ph.D. · Exsar Corporation

Study Design

Allocation
RANDOMIZED
Masking
QUADRUPLE
Model
FACTORIAL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2008-05-31
Primary Completion
2010-03-31

Countries

  • United States
  • Canada

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00679744 on ClinicalTrials.gov