Clinical Studies and Trials: (listed in order of start date)
Effect of Amantadine on Movement Disorder in A-T
Start Date: November 2008
Estimated Study Completion Date: November 2009
Location: Sheba Medical Center, Israel
Investigators: Andreea Nissenkorn, MD, Pediatric Neurologist, Director National A-T Clinic
Purpose: To determine if amantadine sulphate improves ataxia, some of the other movement disorders (example: bradykinesia, dystonia, chorea) and the general well being of patients with A-T.
Eligibility Requirements: 4 years of age or older; confirmed diagnosis of A-T; significant functional disability
Exclusion Criteria:
- Major co-Morbitdity: active malignancy requiring chemotherapy, kidney or liver failure
- sexually active
- known hypersensitivity to amantadine
- previous treatment with amantadine in the 2 months preceding the study
Status: Complete
Benefits: Please contact recruiting center to learn about benefits.
Contact: Yonit Levi, RN at yonit.levi[at]sheba.health.gov.il
Cerebrospinal Fluid Biomarker Study
Start Date: August 2008
Location: A-T Clinical Center at Johns Hopkins Hospital (CSF draw); Indiana University (analysis)
Investigators: Howard M. Lederman, MD PhD (Hopkins); Mu Wang, PhD (Indiana)
Purpose: To identify markers within patient cerebrospinal fluid (CSF) which represent signs of disease or disease progression and which can be monitored to determine drug effectiveness in a clinical trial.
Eligibility Requirements: 18 years of age or older; younger individuals may be able to participate if they are going to the A-T Clinical Center for a separate surgical procedure; previously evaluated at the A-T Clinical Center at Johns Hopkins or must provide medical records that confirm the diagnosis of A-T.
Exclusion criteria:
- Anyone with a medical illness in addition to A-T (such as diabetes, cancer or thyroid disease requiring medicine) would not be eligible.
- Anyone who has a history of brain tumor, increased intracranial pressure, severe headache following a previous lumbar puncture or history of spinal fusion would not be eligible.
Status: Complete
Benefits: MRI; Travel and hotel for patient + 1 to Baltimore
Baclofen Study
Start Date: January 2008
Location: A-T Clinical Center at Johns Hopkins Hospital
Investigator: Thomas O. Crawford, MD
Purpose: To determine if treatment with the drug baclofen improves certain eye movement abnormalities and tremor associated with A-T.
Eligibility Requirements: 12 years of age or older; previously evaluated at the A-T Clinical Center at Hopkins or must provide medical records that confirm the diagnosis of A-T. Please contact Opal Lin Tsai at 443.287.6294 or Dr. Crawford at 410.955.4259 at the A-T Clinical Center for more information.
Status: Currently recruiting
Benefits: Travel and hotel for patient + 1 to Baltimore
Swallowing Study
Start Date: January 2006
Location: A-T Clinical Center at Johns Hopkins Hospital
Investigator: Maureen Lefton-Greif, PhD
Purpose: Two goals of this study are to develop non-invasive markers that will (1) lessen the impact of swallowing dysfunction by facilitating early identification of oropharyngeal dysphagia for the prompt initiation of appropriate treatment and (2) serve as biomarkers for disease progression or clinical trials.
Eligibility Requirements: 6 years or older and able to participate in procedures for recordings of respiration during swallowing and phonation; previously evaluated at the A-T Clinical Center at Hopkins or must provide medical records that confirm the diagnosis of A-T.
Status: On-going; participants recruited only during regularly scheduled A-T Clinical Center visits or meetings for patients with A-T
Benefits: No direct benefits to participants; may help in the future.
Pulmonary Function Study
Start Date: January 2006
Location: A-T Clinical Center at Johns Hopkins Hospital
Investigator: Sharon McGrath-Morrow, MD
Purpose: The major goal of this project is to determine the feasibility of performing standardized pulmonary function testing in children with ataxia-telangiectasia and to collect cross-sectional and longitudinal data on lung function in individuals with A-T to establish the natural history of pulmonary function decline in this population.
Eligibility Requirements: 6 years and older and able to follow directions and perform breathing maneuvers in a controlled fashion.
Status: First part of study completed, currently recruiting all ages of children and young adults who can cooperate and perform breathing maneuvers.
Benefits: No direct benefits to participants; may help in the future.
Oxidative Stress Clinical Trial
Start Date: July 2005
Location: A-T Clinical Center at Johns Hopkins Hospital
Investigator: Howard M. Lederman, MD PhD
Purpose: To determine the safety of and identify laboratory markers for treatment with a combination of nicotinamide and the antioxidant alpha-lipoic acid, compounds that may slow the brain cell death associated with A-T.
Status: Complete
Conclusions: Two laboratory markers of oxidative stress significantly improved when participants took both alpha-lipoic acid and nicotinamide. A trend toward increased lymphocyte counts was also observed, but did not reach statistical significance. None of these changes was thought to be clinically important. However, these findings will form the basis for examination of other laboratory markers of oxidative stress in future trials of novel antioxidant treatments. In addition, this study allowed for the development of accurate and reproducible methods for measuring the lung function of patients with A-T which can also be used in future clinical studies or trials.
L-Dopa Treatment Trial
Start Date: 1997
Location: A-T Clinical Center at Johns Hopkins Hospital
Investigators: Howard M. Lederman, MD PhD; Thomas O. Crawford, MD
Purpose: To determine if L-Dopa has therapeutic benefit for any neurologic deficits.
Status: Complete
Conclusions: No overall consistent improvement in neurologic function was seen. Individual patients perceived some benefit in one or more areas. Further, targeted studies may be warranted.