Reflecting on World Rare Disease Day, Families and Advocacy Groups Drive Treatments

March 1, 2013

Today, we celebrate Rare Disease Day to recognize that the path to treatments and cures is paved by families and caregivers working with advocacy groups, medical advisors and dedicated researchers.

Of the many people touched by and involved in the world of rare diseases, patients and their families are inarguably the most passionate advocates for rare disease research. When their disease-focused family foundations work together, pool their funds and align their efforts, the results can be truly transformative.

No rare disease tells this story better than Tay-Sachs, a progressive neurodegenerative disease caused by an enzyme deficiency. The oldest rare disease advocacy organization in the nation, National Tay-Sachs & Allied Diseases Association (NTSAD) was founded in 1957 by a small group of concerned parents whose children were affected by Tay-Sachs disease or related lysosomal storage diseases and leukodystrophies. NTSAD funded the research that led to the discovery of the cause of Tay-Sachs.

NTSAD also pioneered the development of community education about Tay-Sachs disease and carrier screening programs that became models for all genetic diseases. The Ashkenazi Jewish community, with a higher carrier rate than the general population, marshaled its resources and greatly reduced disease incidence through carrier screening since anyone can be a carrier regardless of ethnic or geographic background. Most come from low-risk populations who are not screened for a genetic disease thought largely to afflict Jewish or other high-risk populations.

cameron_lord (Cameron Lord)

The Lord family knows this all too well, as they lost two beautiful children to Tay-Sachs. Thirteen years ago when Blyth and Charlie Lord’s 5-month old daughter Cameron and her cousin, Hayden, daughter of Charlie’s twin brother, Tim, and his wife, Alison, were both diagnosed with Tay-Sachs disease, there was no notion of treatment. Indeed, the research being conducted at the time was in the earliest stages with little coordination among researchers, affected families and related advocacy groups. There was little hope and little visibility on what might be possible.

Hayden_Lord (Hayden Lord)

In 2007, NTSAD facilitated collaboration among a group of global scientists who were all working on gene therapy to create the Tay-Sachs Gene Therapy (TSGT) Consortium. A handful of family foundations, together with NTSAD, came together to pool their resources and unite these researchers to focus on developing a treatment for Tay-Sachs and Sandhoff diseases, which are similar diseases since both involve deficiencies of the hexosaminidase enzyme.

One of those family foundations was created by the extended Lord family after the deaths of Cameron and Hayden in 2001 and 2000, respectively. The Cameron and Hayden Lord Foundation, along with other family foundations and donors, partners with NTSAD and the TSGT Consortium in funding and advancing promising medical research.

The TSGT Consortium is an international collaborative group of physicians and scientists from six institutions experienced in gene therapy and disease research: Auburn University, Cambridge University (UK), Boston College, University of Massachusetts Medical Center, New York University and Massachusetts General Hospital/Harvard Medical School. Its mission is to translate pioneering research and results from pre-clinical animal experiments into a human clinical trial for Tay-Sachs and Sandhoff diseases.

In 2009, only two years after its creation, the TSGT Consortium was awarded a $3.5 million grant from the National Institutes of Health (NIH) to further its promising gene therapy research. NTSAD has stayed involved to help shepherd this research, which is now in late pre-clinical work, with Phase I/II clinical trials hopefully beginning this year. NTSAD continues to support this project with funding, facilitating connections to families for natural history studies, and to help with trial recruitment.

Today there is no industry support for the TSGT Consortium. With the help of a consulting group’s pro-bono work, NTSAD conducted an assessment of the market opportunity and is using its network to facilitate introductions for the scientists and potential funders, leading to the hopeful success of the clinical studies and eventual commercialization of a treatment.

The search for a treatment is helping the Lord family cope with their grief. They have been able to effectively channel their love for Cameron and Hayden into seeking a treatment. The gene therapy research gives them hope. This is one example of real hope on the horizon for patients suffering from Tay-Sachs. The human spirit, especially among parents of sick children, is a formidable force that seeks solutions to ease suffering and save future lives.

Learn more about NTSAD, their families, and the Tay-Sachs Gene Therapy Consortium, at, Facebook, Twitter (@NTSAD), or email Susan Kahn at [email protected].

Reposted from BIOtechNOW. Written by Susan Kahn and Blyth Lord.

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