Director: Akiko Shimamura, MD, PhD

Co-Director: Kasiani Myers, MD

Our Goals

The Shwachman-Diamond Syndrome Registry (SDSR) is dedicated to accelerating research and treatment for SDS to improve survival and quality of life for all patients with the disease. The ultimate goal is to cure SDS!

  • Advance research understanding and ultimately cure SDS
  • Provide education and resources to SDS patients and families
  • Provide education and resources to medical community
  • Promote collaboration among organizations and institutions to improve the lives of patients with SDS
  • Increase awareness of SDS

The SDSR is centered at Boston Children’s Hospital in Boston, Massachusetts and Cincinnati Children’s Hospital Medical Center in Cincinnati, Ohio. SDSR is dedicated to sharing new knowledge with patients, families, and healthcare professionals.

Participating in the SDS Registry

It’s easy to join the Shwachman-Diamond Syndrome Registry.

Contact the SDS Registry to discuss eligibility and provide informed consent.

If you are interested in enrolling your child or yourself in the Shwachman-Diamond Syndrome Registry (SDSR), please contact us. Consent forms can be Emailed or mailed directly to you. We require consent forms to be reviewed over the phone with the SDSR research staff before signing them. You will need to contact the SDSR to set up a time to go over the forms. This telephone call is short and we can work around your busy schedule. If the patient is a minor (under age 18) parents/legal guardians must review and sign the consent forms. It is important that the signed consent form(s) be mailed back to the SDSR office as soon as possible. A pre-addressed, pre-stamped envelope will be provided to you.

Important items we need from you to assist with the goals of the Registry:

Obtain medical records. We do the work for you! A new Release of Medical Records form is required annually for you to share copies of your medical records with the SDSR. The records requested by the SDSR include clinic notes, notes from hospitalizations, laboratory results, radiology studies, and pathology reports from your primary care physician and any specialists you see for your care. To protect the confidentiality of your medical records the SDSR study staff will assign a unique study code to each participant. This coded information will be entered into a secure computer database.

Samples of your blood and bone marrow

The Registry would like samples of your blood and/or bone marrow when obtained as part of routine clinical care. No extra procedures are ever required. Please contact the SDSR regarding these samples 1 month prior to your scheduled clinic visit and we will send you all of the materials needed.

Share updates about your health

After your consent is complete we will send you a Patient Questionnaire regarding your past and current health. This questionnaire will be periodically sent to you so the Registry can track your health over time. We are happy to assist you by phone when you are filling out the questionnaire.

Why should I join the SDSR?

Things we learn through the Registry allow us to determine what causes SDS and find ways to treat it.
Participation takes little time and the Registry does most of the work for you.
The Registry can receive your consent over the phone if you are unable to visit a Registry site in either Cincinnati or Boston.
With your permission, small amounts of blood or marrow are shared with the Registry and drawn ONLY with scheduled blood or marrow testing.
Information about your health is protected and will not be shared outside of the Registry (i.e. hospitals, insurance companies, etc.).
The Registry is collecting information about all aspects of SDS including pancreatic/nutritional, liver and neuropsychological issues.
The Registry is a resource for both patients and physicians regarding SDS. Contact us with any questions.
The Registry staff is available to speak to families and physicians regarding SDS.
SDS is a rare disease. The more people who participate in the Registry, the more we can learn about SDS, improve medical management, develop new treatments and advocate for SDS families. Click HERE to view our enrollment data.
Currently, there’s little information about SDS and the Registry would like to continue to change that. The diagnosis of SDS is easily missed and the disease may not be as rare as we think. There’s a lack of recognition of the dire complications that can accompany SDS. There’s truly strength in numbers and the more participants on the Registry, the higher the likelihood we can move forward towards finding a cure. Click HERE to learn more about research