Clinical Studies

6721: Intravenous N-acetylcysteine for the treatment of Gaucher’s disease and Parkinson’s disease

Status: Recruiting

Study Summary

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Background

The goal of the study is to measure levels of brain chemicals with a strong magnetic resonance imaging (MRI) machine to see if there is a change in these chemicals after receiving the antioxidant N-acetylcysteine (NAC). We will compare the amounts of specific chemicals in the brains and blood of people with and without Parkinson’s disease (PD) and Gaucher’s disease (GD). Any changes we may find in brain chemical levels may improve understanding of the changes in the brain that occur with either disease. This could eventually lead to better treatment options.

About this Study

We are interested in determining if we are able to detect changes in brain chemistry using Magnetic Resonance Spectroscopy (MRS) (a type of brain scan to measure the levels of brain chemicals). in individuals with Parkinson’s disease (PD), Gaucher’s disease (GD), and those without these disorders when they are given the antioxidant N-acetylcysteine (NAC). Nine subjects will be enrolled: 3 with PD, 3 with GD, and 3 healthy volunteers. This study will combine information from a medical history, a physical examination and disease rating scales with results obtained using MRS brain scans and NAC concentrations in blood samples. This research will require 1 visit during which participants will provide their medical history, be examined and undergo a rating scale for about one hour; the brain scan and pharmacokinetic studies (studies of the body’s absorption and metabolism of drugs) will require between 1 and 2 hours of time; in total the study will take about 4-5 hours.

Targeted Enrollment

To be eligible to participate, you must:

  1. Be 18 years or older.
  2. Understand and cooperate with requirements of the study in the opinion of the investigators and be able to provide written informed consent.
  3. Not have taken antioxidants coenzyme Q-10, vitamin C, or vitamin E for 3 weeks prior to the study.
  4. Be medically stable (in the clinical judgment of the investigator) if you have type 1 GD. You also must either be on no treatment or on stable treatment regimens for at least 1 month prior to the study visit.

    OR

  5. Have medically stable Parkinson’s disease (in the opinion of the investigator).
  6. Not have been diagnosed with dementia, as determined by pre-scanning cognitive assessment.
  7. Control subjects must be are able to undergo MRS

You are not eligible to participate if:

  1. You are unable to undergo MRI scanning without sedation
  2. You have a medically unstable condition in any group as determined by the investigators
  3. You are pregnant or lactating. If you are a woman of child-bearing age and are not using an acceptable form of contraception
  4. You have had a diagnosis of asthma that is presently being treated with ANY medication, or past history of asthma/bronchospasm resulting in an emergency room visit, hospitalization or treatment
  5.  You are unable to adhere to study protocol as deteremined by the Principal Investigator

How to participate

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

 

Join the Contact Registry for: Gaucher disease