NORD and SLS Network Community Launch Sjögren-Larsson Syndrome Registry to Accelerate Research and Treatments

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National Organization for Rare Disorders (NORD)

Jun 29, 2015, 09:00 ET

WASHINGTON, June 29, 2015 /PRNewswire-USNewswire/ -- The National Organization for Rare Disorders (NORD)®, the leading independent nonprofit committed to the identification, treatment and cure of rare diseases, and the Sjögren-Larsson Syndrome (SLS) Network Community, an online group that provides support, education, and awareness to patients, family, and friends affected by SLS, today announced the launch of the Sjögren-Larsson Syndrome Registry, a new database to accelerate research and cures for patients with this rare disease.

The SLS Registry creates a platform for patients around the world with SLS to share information about the disease with researchers. It provides a picture of each patient's experience to help researchers and medical experts advance research. There are currently no FDA-approved treatments.

NORD President and CEO Peter L. Saltonstall said the SLS Registry addresses what is widely recognized as one of the greatest needs and inherent challenges of the rare disease community – having enough natural history data to help medical researchers better understand how diseases develop and progress over time.

NORD and the SLS Network Community worked together to develop the SLS Registry. It consists of electronic surveys to collect information from patients. The information is made anonymous and may be shared with individuals or institutions conducting research or clinical trials.

The SLS Registry is part of NORD's registry program, which NORD developed with input from patients and patient organizations, researchers, and regulators as part of its mission to identify and treat all 7,000 rare diseases.

"We are frequently asked if studying one rare disease can lead to findings about another, and the answer is yes," said NORD's Genetic Counselor and Medical Editor Marsha Lanes. "SLS patients have symptoms such as leukoencephalopathy and ichthyosis that overlap with other rare diseases. The SLS Registry is an important tool for understanding this rare disease and potentially others."

Janet Woodcock, M.D., Director of the FDA's Center for Drug Evaluation and Research, has praised NORD's registry initiative as a helpful tool "that protects the security and privacy of personal information, while making valuable information available to a researcher or drug developer interested in creating a new therapy for a rare disease." [1]

The SLS Network Community and SLS Registry are supported by a RareLaunch™ educational grant from Aldeyra Therapeutics, a biotechnology company focused on the development of products to treat diseases related to free aldehydes, a naturally occurring class of toxic molecules. RareLaunch is NORD's multifaceted capacity-building program through which it works with rare disease patients and patient advocates to help eliminate the challenges of rare diseases by developing disease-specific communities for the purpose of sharing information, accessing resources, learning from medical experts, and building strong and independent patient organizations.

"We are committed to identifying cures and treatments for patients with diseases related to free aldehydes, such as the rare disease Sjögren-Larsson Syndrome. We have recently begun enrollment in a Phase 2 clinical trial for SLS patients for our lead product candidate, NS2," said Todd C. Brady, M.D., Ph.D., President and CEO of Aldeyra Therapeutics. "We feel fortunate to have this opportunity to work with NORD to reach patients with SLS on our shared goal of helping to improve the lives of people with rare diseases."

SLS is a rare genetic disease that affects approximately 1 in 250,000 individuals and is characterized by dry scaly skin, neurological problems including developmental delay, and eye problems. These symptoms are apparent by early childhood. It is caused by mutations in a gene called ALDH3A2, a gene that provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). The enzyme helps break down fatty aldehyde molecules. When these molecules cannot be broken down, they accumulate and interfere with the normal function of the skin, brain, and eyes. A clinical study is currently ongoing to investigate a treatment for ichthyosis due to SLS. Visit https://clinicaltrials.gov for more information.

For more information about the SLS Registry, visit https://slsregistry.rarelaunch.org. For information about the SLS Network Community, visit https://www.facebook.com/SjogrenLarssonSyndrome.

About National Organization for Rare Disorders (NORD)^®The National Organization for Rare Disorders (NORD), established in 1983, is the leading, independent nonprofit organization representing all patients and families affected by rare diseases in the U.S. NORD is committed to the identification, treatment and cure of all 7,000 rare diseases, 95 percent of which have no treatment, and affect 30 million Americans, or 1 in every 10 people. NORD provides programs of advocacy, education, research and patient/family services to improve the lives of all people living with rare diseases. NORD represents more than 230 disease-specific member organizations and partners with many other organizations in specific causes of importance to the rare disease patient community. Join NORD at www.rarediseases.org/ and on Twitter at @RareDiseases.

About the Sjögren-Larsson Syndrome (SLS) Network Community
The Sjögren-Larsson Syndrome (SLS) Network Community is an online group that provides support, education, and awareness to patients, family, and friends affected by SLS. For more information, visit https://www.facebook.com/SjogrenLarssonSyndrome.

[1] Woodcock, J. "The more we know about rare diseases, the more likely we are to find safe and effective treatments." FDAVoice (Oct. 23, 2014)

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SOURCE National Organization for Rare Disorders (NORD)