Medical Genetics

Clinical Trials

Down Syndrome
Glycogen Storage Disease Type II (Pompe Disease)
Gaucher Disease
Hypophosphatasia

Down Syndrome

Title: A 10-Week, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Donepezil Hydrochloride (Aricept®)
in the Treatment of the Cognitive Dysfunction Exhibited by Children with Down Syndrome

Purpose of the study

The objective of this study is to evaluate the efficacy and safety of donepezil hydrochloride in the treatment of the cognitive dysfunction exhibited by children with Down syndrome as assessed in the domains of communication, daily living skills, and socialization.

Who is eligible?

Subjects (male or female) will be residing in the community, 10 to 17 years of age, weighing >20 kg, ambulatory or ambulatory-aided, with a diagnosis of Down syndrome (trisomy 21) documented by chromosomal analysis and staging of mild or moderate mental retardation as indicated by a Vineland-II composite adaptive behavior standard score of >55 at screen. Prior cholinesterase inhibitor use is allowed as long as use has been discontinued for greater than or equal to 3 months prior to study entry and has not been discontinued for intolerance or lack of efficacy or solely for study entry.

Contact:
Jane Ann McKillop, MS, CGC
919.668.4576
janeann.mckillop@duke.edu or

Blythe Crissman, MS, CGC
919.681.1976
criss004@mc.duke.edu

Title: A 12-Week, Double-Blind, Placebo-Controlled Clinical Trial Followed by a 36 Week Treatment Extension to Evaluate the Safety and Efficacy of Rivastigmine in Children with Down Syndrome

Purpose of the study
This study is looking at the effects of a cholinergic medication (rivastigmine tartrate) on healthy adolescents with Down syndrome to see if it improves memory, attention, language, or activities of daily living.

Who is eligible?
Children ages 10 to 18 with Down syndrome (trisomy 21, translocation, or mosaic) with no health problems that contraindicate use of rivastigmine tartrate. Subjects must be able to communicate independently with examiners without the use of sign or assistive devices.

Contact:
Blythe Crissman, MS, CGC
919.681.1976
criss004@mc.duke.edu

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Glycogen Storage Disease Type II (Pompe Disease)

An Exploratory Study of the Safety and Efficacy of Immune Tolerance Induction (ITI) in Patients With Pompe Disease Who Have Previously Received Myozyme
[ClinicalTrials.gov Identifier: NCT00701701]
This Phase IV study aims to evaluate the efficacy, safety and clinical benefit of two Immune Tolerance Induction (ITI) regimens in combination with Myozyme. Eligible patients who are currently receiving Myozyme therapy will be enrolled in the study and will be followed for a minimum of 18 months on-study (a 6-month ITI treatment module and a 12-month follow-up module on Myozyme alone). Eligible patients will be followed for a minimum of 18 months on treatment or, if a patient is <6 months of age at the time of enrollment, until the patient is 2 years of age. Both cross-reacting immunologic material (CRIM)-negative and CRIM-positive patients can be eligible for the studies.

An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme (Alglucosidase Alfa)-Naive CRIM(-) (Cross-Reacting Immunologic Material) Patients With Infantile-Onset Pompe Disease
[ClinicalTrials.gov Identifier: NCT00701129]
This Phase IV study evaluates the efficacy, clinical benefit and safety of immunomodulatory regimen of Rituximab and Methotrexate in patients with Infantile-Onset Pompe disease prior to starting Myozyme infusions. Patients who are cross-reacting immunologic material (CRIM)-negative are followed for at least 18 months on treatment and are asked to enroll in the Pompe Disease Registry after study completion.

Respiratory Muscle Strength Training in Adults and Children with Pompe Disease
This is a preliminary research study to determine the effects of respiratory muscle strength training (RMST) in adults and children with Pompe disease ages 4 and up. The study is designed to determine whether RMST is an active treatment in this population, estimate the magnitude of change if present, and determine safety and feasibility.

A Long-term Study to Evaluate Growth and Development Outcomes in Patients With Infantile-Onset Pompe Disease Who Are Receiving Myozyme® (Alglucosidase Alfa)
[ClinicalTrials.gov Identifier: NCT00486889]
This Phase IV study evaluates the long-term growth and development of patients up to 24 months of age with infantile-onset Pompe disease who are using Myozyme. Patients are followed for 10 years.

An Open-Label, Multi-Center, Study to Investigate Drug-Drug Interactions Between AT2220 (Duvoglustat Hydrochloride) and Alglucosidase Alfa in Patients With Pompe Disease
[ClinicalTrials.gov Identifier: NCT01380743]
This Phase II study will look at Drug-Drug Interactions Between AT2220 (duvoglustat hydrochloride) and alglucosidase alfa (ERT) in Patients with Pompe Disease.

Pompe Disease Registry
[ClinicalTrials.gov Identifier: NCT00231400]
This is an ongoing, international multicenter, strictly observational program for patients with a confirmed diagnosis of Pompe disease. The objectives of the registry are to 1) enhance the understanding of the variability, progression and natural history of Pompe disease; 2) provide recommendations for monitoring patients and reports on patient outcomes to optimize patient care; 3) characterize and describe the Pompe disease population as a whole; 4) evaluate the long-term effectiveness of ERT with Myozyme.

Natural History of Pompe Disease Across the Disease Spectrum
This study involves long-term record review of patients with Pompe disease. The study aims to identify the new natural history of treated Pompe disease; evaluate long-term treatment efficacy of ERT; identify long-term complications and progression in Pompe disease (treated and untreated); determine genotype-phenotype correlations; and evaluate the use of biomarkers for noninvasive surveillance of disease and response to ERT.

Longitudinal Follow-up of Individuals with Pompe Disease: Rare Diseases Clinical Research Network (RDCRN) Lysosomal Diseases Network (LDN)
This is an international multicenter, observational program for patients with Pompe disease. The objectives are to determine the correlation of CRIM status with GAA gene mutations, development of antibodies, and the natural history and treatment of Pompe disease. This registry of information regarding natural history of disease progression and response to treatment will be shared with scientists and physicians treating patients with Pompe disease throughout the world.

Whole-Body MRI Study
This study aims to understand the role of whole-body MRI as a non-invasive diagnostic tool and surveillance strategy for monitoring response to ERT.

Pompe Disease Repository: A Biobank for Future Research
The Division of Medical Genetics at Duke University Medical Center maintains an active research program with our patients with Pompe disease. This repository involves the collection and storage of various tissue samples obtained from individuals with Pompe disease in conjunction with clinical activities, research initiatives or tissue donation. Samples are de-identified and stored securely within the Division of Medical Genetics Research Laboratory for use in future research studies.

For more information about clinical trials and research opportunities for Pompe disease at Duke contact:

Joanne Mackey, Nurse Practitioner
919.681.1945
919.684.8944 fax
joanne.mackey@duke.edu

Stephanie DeArmey, Physician Assistant
919.681.1946
919.684.8944 fax
stephanie.dearmey@duke.edu

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Gaucher Disease

Title: A Phase 3, Randomized, Multi-Center, Multi-National, Open Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type I who have been Stabilized with Cerezyme. More information.