Research Administration November-December 2008

by Quest Staff on November 1, 2008 - 1:57pm

QUEST Vol. 15, No. 6

New MDA clinical research network to target ALS, DMD

MDA has committed $1 million per year in funding and selected 10 elite U.S. clinics to become clinical research centers as part of a new MDA Clinical Research Network. Five of the centers will support trials and studies of amyotrophic lateral sclerosis (ALS), and five will focus on Duchenne muscular dystrophy (DMD).

The Network will conduct projects and studies to enhance understanding of these diseases; develop standardized clinical care and clinical trial outcome measures; and speed development and testing of new treatments. It may eventually expand to cover additional diseases.

PTC Therapeutics and Genzyme will collaborate on PTC124 development

Genzyme Corp., a Cambridge, Mass.-based biopharmaceutical company, will collaborate with PTC Therapeutics of South Plainfield, N.J., to develop PTC124 for Duchenne muscular dystrophy (DMD), cystic fibrosis and other genetic disorders. Genzyme is the developer of Myozyme, an FDA-approved enzyme replacement therapy for the treatment of Pompe disease (acid maltase deficiency).

MDA provided PTC with an initial $1.5 million grant, enabling the company to begin developing PTC124, a medication with the potential to treat patients with DMD whose disease is due to “nonsense mutations,” also called premature stop codons, which cause DMD in about 15 percent of cases.

A July 17 announcement released jointly by Genzyme and PTC stated that Genzyme will make an upfront payment of $100 million to PTC, with potential additional payments at a later time.

Also in July, PTC received the Art of Industry Partnership Award from the Genetic Alliance, a Washington-based coalition of advocacy organizations working to improve health through genetics.

SMT C1100 development for DMD gets a boost

Summit Corp. of Oxford, United Kingdom, announced in July that it has begun collaborating with BioMarin Pharmaceutical of Novato, Calif., on development of SMT C1100 for Duchenne muscular dystrophy (DMD).

The experimental compound is designed to increase production of utrophin, a muscle protein similar to dystrophin, which is missing in boys with DMD. In experiments in mice, utrophin has been found to at least partially compensate for the loss of dystrophin. (See “Utrophin gene transfer was helpful in mice with severe MD.”)

BioMarin is investing $7 million in Summit immediately and is committed to substantial ongoing support for SMT C1100 development. A phase 1 clinical trial is planned for 2009.

Canada OKs idebenone for FA treatment

On July 24, the antioxidant compound idebenone received conditional market approval for the treatment of Friedreich’s ataxia (FA) in Canada. The approval is based on the condition that the developer provide additional data from an ongoing trial. (Idebenone is not yet approved in the United States or Europe.)

Idebenone, which is related to the natural substance coenzyme Q10, was developed by the Swiss pharmaceutical company Santhera as SNT-MC17. In Canada, idebenone will be marketed under the trade name Catena.

Santhera is testing the compound, which is designed to improve cellular energy production and reduce oxidative stress, in FA, Duchenne muscular dystrophy (DMD) and Leber’s hereditary optic neuropathy.

In a phase 2 study in patients with FA, idebenone was generally well tolerated and associated with improvement in neurological function, as well as scores measuring activities of daily living. A phase 3 trial in FA remains open.

Repligen receives MDA support to develop treatments for FA

MDA has awarded a $1 million grant to the biopharmaceutical company Repligen, of Waltham, Mass., for development of histone deacetylase (HDAC) inhibitors to treat Friedreich’s ataxia (FA). HDAC inhibitors change the way cells interpret genetic information, usually activating genes that would otherwise be silent. In FA, HDAC inhibitors may activate silent frataxin genes and restore needed frataxin protein production.

No votes yet
MDA cannot respond to questions asked in the comments field. For help with questions, contact your local MDA office or clinic or email See comment policy