Current Research Avenues
Classical homocystinuria was first reported by American physician D. A. Carson in 1962 followed by H. Mudd describing the enzyme defect in 1964. Since his discovery much research has gone into both understanding the disease and investigating approaches for effective therapeutic treatments.
The HCU Networks sought to identify the therapeutic approaches under investigation for classical homocystinuria and characterise clinical and preclinical stage technologies in development. The Investigational Therapies Research Map aims to summarise the treatment approaches being studied by academia and industry covering pre-clinical and clinical stage technologies.
The Research Map was developed based on information available in the public domain and provided by academic and industry researchers. Interviews with leading researchers and clinicians served to expand and validate the Research Map and to provide expert input on the Research Strategy.
Expert input included:
- Viktor Kozich – Project Advisor
- Kimberley Chapman
- Bart deGeest
- Henk Blom
- Jan Kraus
- Warren Kruger
- Andrew Morris
- Bridget Wilcken
- Johan Van Hove/Cynthia Frehauf*
Industry input included:
- Aeglea Biotech*
- Orphan Technologies*
*Provided input on specific program
Investigational Therapies Research Map
Our Research Map focuses on one of our key priorities: Advance New Treatment Modalities. The Research Map is not intended to be an exhaustive list of research activities around the world and does not include analysis on existing and emerging tools for diagnosis and disease monitoring. Click here to view our Investigational Therapies Research Map.
For a description on the different types of investigational therapies for Classical Homocystinuria please see Therapeutic Avenues.
To read about strengths and weaknesses of each approach view the Global Research Map: CBS deficient homocystinuria presentation by Margie McGlynn, President HCU Network America. Note: the evaluation of each program is based on a compilation of input from expert interviewees and does not represent a consensus.