Research Projects Currently Funded
Screening for Krabbe and Other Rare Neurometabolic Disorders in MS Patients
Mount Sinai School of Medicine
Dr. James Weisfeld-Adams
The purpose of this study is an evaluation of newborns screening positive for various inherited metabolic diseases. In conjunction with Dr. Melissa Wasserstein, also with Mount Sinai School of Medicine, this is a pilot study looking at the utility of screening for adolescent and adult onset variants of leukodystrophies, neuronopathic lysosomal storage diseases, and other Mendelian neurometabolic disorders (Krabbe, MLD, Alexander Disease, ADLD, Fabry, PLP1 Disease, GM2 Gangliosidosis) in a selected cohort of patients seen in adult neurology clinics and carrying possible erroneous diagnoses of other disorders (multiple sclerosis, parkinsonism, dementia).
This project was originally conceived on the back of preliminary data from Krabbe newborn screening in the state of New York, which suggests that late onset Krabbe Disease may account for a higher proportion of the total number of cases than was originally appreciated.
The results of this pilot study could provide important information about the prevalence and natural history of Krabbe Disease and other leukodystrophies, and we anticipate that the clinical spectrum of many of these diseases is wider than has been previously recognized. Knowledge of the natural history of these diseases serves as a guide for expanded newborn screening policy, and availability of treatments is increasing.
Pharmacological Strategies for Preventing Damage that Occurs in Krabbe Disease
Rochester Institute of Technology
Dr. Mark Noble
The goal of our
research is to reduce – and preferably prevent entirely - the damage that
occurs in Krabbe disease (KD). At a
minimum, the hope of this research is to improve the quality of life for
children with KD. Our central mission,
however, is to develop therapies that will become critical parts of the
ultimate treatment of KD.
reasons, we have focused our efforts on discovery of pharmacological strategies
for preventing the damage that occurs in KD, with a particular focus on
discovering new uses of drugs already approved by the FDA or equivalent
regulatory agencies in other countries.
The multiple research teams working on bone marrow transplantation (BMT)
and gene therapy for KD have brought these approaches to a point where the
potential value and limitations of these approaches is well understood. The
risks of BMT and the long period of time that will elapse before gene therapy
becomes possible emphasize the need for discovery of approaches that can be
implemented more safely and rapidly. No
approach is better suited for this than that of discovering new uses of
existing pharmacological approaches. By
taking advantage of the fact that most, if not all, drugs have multiple
mechanisms of action this approach enables the discovery of new uses of agents
that already have been shown to be safe in humans and for which extensive
information exists on dosage and safety.
Moreover, only pharmacological approaches offer the possibility of
affecting every cell in the body.
For a list of past research projects funded by Hunter's Hope Foundation, please visit our Historical Historical Research page. For more information on extramural research projects and funding, please email email@example.com