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Apr. 19, 2016

TOPIC: Press Releases, Research

NORD Announces 20 Rare Disease Patient Groups Selected to Develop Natural History Studies as Part of FDA Cooperative Agreement

Posted by Jennifer Huron

NORD-FDANatural History Study Project (3)Twenty rare disease patient groups have been chosen to develop natural history studies with the assistance of the National Organization for Rare Disorders (NORD) supported in part by a cooperative agreement with the U.S. Food and Drug Administration (FDA).

NORD, the leading, independent nonprofit organization committed to helping people and families affected by rare diseases, today announced the 20 patient groups that will be given the opportunity to develop a natural history study, funded in part by the cooperative agreement, through NORD’s Natural History Study research platform.

“Our goal is for the 1 in 10 Americans with rare diseases, most of whom are children, to have a treatment and cure, and we developed NORD’s Natural History Study platform to eliminate challenges standing in the way of that target,” said NORD President and CEO Peter L. Saltonstall. “We thank the FDA for its support of NORD and ongoing commitment to rare diseases.”

The 20 patient groups are: Hereditary Neuropathy Foundation, Organic Acidemia Association, XLH Network, Inc., CCHS Family Network, Pitt Hopkins Research Foundation, The OMSLife Foundation, Platelet Disorder Support Association, Global Foundation for Peroxisomal Disorders, APS Type 1 Foundation, Scleroderma Research Foundation, Galactosemia Foundation, Desmoid Tumor Research Foundation, International Pemphigus & Pemphigoid, The Morgan Leary Vaughan Fund, Adult Polyglucosan Body Disease (APBD) Research, Bridge the Gap-SYNGAP Education and Research Foundation, United Leukodystrophy Foundation, AMENSupport (American Multiple Endocrine Neoplasia Support), Lipoprotein(a) Foundation, and Worldwide Syringomyelia & Chiari Task Force.

The groups were determined by a competitive application process reviewed by an internal committee.  All diseases represented have diagnostic challenges, limited or no research, and cover a broad range of symptoms and medical specialties, including neurology, cardiovascular, musculoskeletal, immunology and endocrinology.  Selected organizations are all members of NORD.

Natural history studies are longitudinal studies that aim to fill research gaps to help medical researchers better understand how diseases progress over time. They can yield vital information that is essential to clinical trial design, such as biomarkers, demographics, important clinical symptoms, genetic and environmental variables, and patient perspectives.

Rare diseases have posed unique challenges to researchers and drug developers due to small patient populations, lack of data, clinical endpoints that are often unclear, and enrollment and retention challenges for clinical trials.  There are nearly 7,000 rare diseases and disorders, 95 percent of which have no treatment.

 

Saltonstall added, “NORD’s Natural History Studies project empowers patients and families to help eliminate some of the ‘I don’t know’ in rare disease research, making way for progress.”

47 Responses to “NORD Announces 20 Rare Disease Patient Groups Selected to Develop Natural History Studies as Part of FDA Cooperative Agreement”

  1. Bonita Proctor says:

    I was diagnosed with AHA last year. it took a long time for the correct diagnosis and even then the treatment has been trial and error. i am adopted, so I have no family history. I hope that by keeping records of my illness it will help future generations in my family to have faster diagnosis and treatment.

  2. Fran Bostwick says:

    So excited I have Chiari n Sprinx lots of other also.

  3. Vanessa says:

    Is Pandas on your list of rare disease?

  4. Mary Hutchinson says:

    Thank you!!!

  5. Karen says:

    How can I be a part of this? I have syringomyelia and chiari

    • Christina Jensen says:

      Karen,

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the Worldwide Syringomyelia & Chiari Task Force’s Natural History Study, please contact the organization directly. You can find their information on their website here: http://www.wstfcure.org/

  6. Missy Miller says:

    Thank You for doing this. I have Syringomyelia doagnosed in 2013 and I’m still trying to get people to understand this disease Thank You for doing this dear. It bought tears to my eyes.

  7. Nancy Walker says:

    I have Arnold Chiari Malformation 1 with a slit like syrinx. Has NORD already chosen the people to be in this study? I live in northeast Louisiana. Thank you for your time.

    • Christina Jensen says:

      Nancy,

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the Worldwide Syringomyelia & Chiari Task Force’s Natural History Study, please contact the organization directly. You can find their information on their website here: http://www.wstfcure.org/

  8. Karen Summerhays says:

    I have Syringomyelia, how can I help

    • Christina Jensen says:

      Karen,

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the Worldwide Syringomyelia & Chiari Task Force’s Natural History Study, please contact the organization directly. You can find their information on their website here: http://www.wstfcure.org/

  9. Rebecca Minnick says:

    I am praying for a cure for OMS along with a test to show when a relapse is near. A test to diagnose would be good too. I believe more children have this disease and die being sent home with cerebellum ataxia. Please save these children before brain damage.

  10. Melissa Ray says:

    I think this is great. I have XLH, I’m 41 years old. I would love to know how I can participate.

    • Christina Jensen says:

      Melissa,

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the XLH Network Inc.’s Natural History Study, please contact the organization directly. You can find their information on their website here: https://xlhnetwork.org/

  11. Will there be any clinical trials on Charcot-Marie-Tooth Disease using PXT3003?

  12. Cathy A white says:

    Thank you so much for choosing CCHS as one of the 20 rare diseases my family thanks you. My daughter has been living with CCHS since birth and 7 other diagnosis. Thank you.

  13. Nikki says:

    To bad Erythromelagia isn’t on there!

  14. I would like to know how I can participate in this.

  15. I have XLH and would like to know how I can participate

    • Christina Jensen says:

      Catherine,

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the XLH Network Inc.’s Natural History Study, please contact the organization directly. You can find their information on their website here: https://xlhnetwork.org/

  16. sheila koski says:

    I have Chiari and many other on going problems ive had decompression, revision surgeries and a third one is needed no to put a plate in my head to try and hold the brain up, id love to be part ho does it go?

    • Christina Jensen says:

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the Worldwide Syringomyelia & Chiari Task Force’s Natural History Study, please contact the organization directly. You can find their information on their website here: http://www.wstfcure.org/

  17. robin lennon says:

    Thank you for supporting all of us with syringomyiela and chari malformation. .world wide is an excellent and dedicated organization. ..I am honored to have known beth Nygen hard work and seeking help for so many..thank you NORD.

    • Christina Jensen says:

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the Worldwide Syringomyelia & Chiari Task Force’s Natural History Study, please contact the organization directly. You can find their information on their website here: http://www.wstfcure.org/

  18. Bonnie Lou Koons says:

    I would like to participate. I have Chiari Malformation and Syringomelia. Thank you for including us in your study.

    • Christina Jensen says:

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the Worldwide Syringomyelia & Chiari Task Force’s Natural History Study, please contact the organization directly. You can find their information on their website here: http://www.wstfcure.org/

  19. I have spent 8 miserable yrs, and multiple DR’s just brushed me off! The pain was so intense. Sometimes my head felt so heavy I felt like my neck would break. My memory was useless and had always being a avid reader,that was no longer possible. My comprehension skills disappeared. Trying to read a simple recipe would bring me to tears. I would have to read it over and over.I staggered like a drunk. Sleeping more then an hour or two at night became a luxury! I would be more then delighted to help in any I can! I am having surgery for my Chiari 1 malformation in June.

    • Christina Jensen says:

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the Worldwide Syringomyelia & Chiari Task Force’s Natural History Study, please contact the organization directly. You can find their information on their website here: http://www.wstfcure.org/

  20. Lindsay Gambini says:

    My son, Jonathan, was diagnosed with OMS in August 2015 at Lurie Children’s Hospital in Chicago, Il. We are so happy to hear this wonderful news. We need more research for our children! My son is currently taking Dexamethasone daily and IV every other week. This is a very aggressive treatment and hasn’t been used much. It is helping him tremendously and I would love to help with any information I could. Thanks again!!!

    • Christina Jensen says:

      Thank you for reaching out and we’re happy to see your interest! In order to participate in the OMSLife’s Natural History Study, please contact the organization directly. You can find their information on their website here: http://www.omslifefoundation.org/?q=en

    • Lindsay;
      Please consider joining our family forum on FaceBook – OMSLife. We have hundreds of OMS caregivers that discuss all topics regarding OMS. Also, feel free to email me if you have questions about OMS or OMSLife.
      Mike

  21. Kimberly says:

    Thank you! I have syringomyelia if I can help please e-mail me!

  22. Kim Stiglmeier says:

    How wonderful! My son was diagnosed with OMS almost 15 years ago. Hardly any information or research was available. We will be more than happy to help & share our experiences since diagnosis. This is such good news for all the rare diseases that received the grant.

    • Kim;
      I agree with you that for so many years, little information was available on OMS. OMSLife has worked to bring together caregivers, doctors, and valuable information to improve the quality of life of our OMS warriors. Consider joining our FaceBook forum at OMSLife. You will find new families as well as those who have struggled for 20 years. Feel free to contact me also if you need resource assistance.
      Mike

  23. I run the Galt Resource pg and a few support pgs. I have messaged NORD many times asking why Duarte Galactosemia isnt lisyed in your rare disease database. I see now Galactosemia is part of the study I do hope now you will add us to your database of searchable rare diseases since that is the purpose of your site. I would love to encourage others to help with this so please private message me info.

  24. Kristine Spencer-Lachut says:

    At age 41 in 2008, I finally learned I had Syringomyelia. I laughed, cried, wept, hugged my family. I officially felt vindicated. I hadn’t been faking when describing my ailments throughout my life to teachers, school nurses, my parents, and family doctor. I have been told my Syringomyelia is Idiopathic.

  25. NORD has all our gratitude for selecting the CCHS Family Network for its support in our establishing a registry with their expert assistance! Our 400 + US families will benefit from much expanded opportunity for research, making connecting links across diseases and generally encouraging new avenues of research into our syndrome. So thankful for NORD’s work and continuing efforts in the rare disease fields!! See CCHS at http://www.cchsnetwork.org

  26. For those of you who are caring for an OMS warrior, please feel free to join our Facebook forum at OMSLife or email me at mike@omslife . We can help direct you to necessary OMS resources.

  27. Robin Hufferd says:

    Are you doing the Natural History for CAPS

  28. Tammy Weaver says:

    Ive been diagnosed with Syringomyelia for the past 9 yrs. Caused from Domestic Violence. Im losing my ability to walk, breathing is being affected along with bladder and intestines. T3 to T8 last i knew, its a silent killer. Drs in my area shove me off because theyve never heard of Syringomyelia, if they did they tell me im too rare to treat. Im basically left to fight alone. Im scared to death at 41 yrs old. Id love help if i could get it.

  29. I wish there was a way for Pulmonary Fibrosis to be on this list. I always feel like I’m suffocating!

  30. I am interested in participating in research for Chiari I Malformation. I had decompression last year in July 2015

  31. ANITA says:

    I was diagnosed with syrinx last year, Cervical 6-7 thru entire Thoracic spine. My symptoms continue to progress but nobody in my area believes my symptoms or feels I need treatment. I would love to participate in the Syringomyelia study. Can I participate I’d I do not have Chiari malformation?

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