What is a registry?

It's an online platform where individuals can take surveys, upload medical records, track health outcomes, and learn about the latest research and clinical trials.

Registry data is safeguarded and de-identified which makes it possible to share with researchers and drug developers working to help find new and better treatments for disease. Data is also shared with patients, giving Registry participants the opportunity to learn how others are managing similar health challenges.

Who can join the Registry?

This Registry is meant for people living with or at risk of developing a health condition. Children who are younger than 18 years of age, or adults who cannot make their own medical decisions, must have their legal guardian, parent, or custodian register on their behalf.

Why join the Registry?

Your voice matters. The more information we collect about an illness through patient surveys and uploaded medical reports, the closer we can get to helping communities find treatments that work.

With your participation, we can:

• Study why individuals have different symptoms
• Learn which treatments work and which don't
• Help medical professionals improve how they treat affected individuals with the condition
• Speed up research by collecting information that scientists can use
• Inform people living with health conditions (or their families) when they may be eligible for research studies or clinical trials

If I have already joined a registry, can I still join the Registry?

Yes. Joining the Registry will make a real difference because data will be shared with patients and people who can help improve their lives.

What questions are asked of Registry Participants?

This Registry's questionnaire is split into three components: Diagnosis, Symptoms, and Quality of Life. You can preview the questions asked in each section below.

Section 1: Diagnosis

• What is your diagnosis, according to your doctor?

• What is your genetic test result?

• If you have a genetic test result, what is your repeat length? 

• Were you the first person in your family given the diagnosis?

• Please indicate which family members are also known to have myotonic dystrophy. (Select all that apply.)

• At what age did the first medical problems occur that may be related to your myotonic dystrophy?

• What is your most recent weight (in pounds)?

• What is your most recent height (in inches)?

• Do you have a doctor's diagnosis of diabetes?

• How would you describe your ethnic origin?  

• Which of the following explains the reason why you chose to join this registry? (Select all that apply.)

• Have you signed up for any other myotonic dystrophy registry?

• Would you like to be notified about opportunities to participate in research studies or clinical trials? (Select all that apply.)

• Are you willing to donate a tissue specimen or other type of biospecimen for future research studies?

Section 2: Symptoms

Motor Function

• Do you have difficulty walking due to your myotonic dystrophy diagnosis?

• Do you use any of the following orthopedic devices or therapies due to your myotonic dystrophy diagnosis? (Select all that apply.)

• Do you use a wheelchair? (Select the most appropriate response.)

• I started using a wheelchair at age...

• Please list additional strategies, including any medications, you use to manage challenges with motor function.

Myotonia / Neuromuscular / Movement

• Does myotonia (cramping, difficulties releasing your grip, etc.) currently have a negative effect on your normal daily activities? 

• Do you currently take medication to treat or prevent myotonia? 

• Which of the following medication(s) do you currently take? 

• Please list additional strategies, including any medications, you use to manage symptoms of myotonia.

Cardiac

• Have you been diagnosed with a heart condition?

• I was diagnosed at age...

• Have you had an operation to implant a device to control or normalize your heart rhythm?

• I had the operation at age...

• Do you currently take any medication(s) (e.g. ACE-inhibitors, beta-blockers, or anti-arrythmics) to treat or protect your heart?

• Please list additional strategies, including any medications, you use to manage cardiac-related challenges.

Breathing / Pulmonary

• Do you have any trouble breathing?

• Do you use a non-invasive ventilation device (such as CPAP or BiPAP)?

• Do you use an invasive ventilation device (such as a ventilator)?

• Please list additional strategies, including any medications, you use to manage challenges with breathing.

GI / Feeding / Swallowing

• Do you have difficulty swallowing (food or liquids get stuck in your throat, choking, etc.)?

• Do you have a tube (gastric/nasal) for feeding?

• Please list additional strategies, including any medications, you use to manage challenges with swallowing or feeding.

Eye / Vision

• Do you have trouble with your vision due to cataracts?

• Have you had eye surgery for cataract removal?

• I had eye surgery for cataract removal at age...

• Please list additional strategies you use to manage vision challenges.

Fatigue

• Does fatigue currently have a negative effect on your normal daily activities?

• Do you currently take medication to treat or prevent fatigue?

• Which of the following medications do you currently take?

Pain

• How much does pain interfere with your enjoyment of life?

• Which pain medications do you currently take?

• Please list additional strategies, including any medications, you use to manage pain.

Psychiatric / Behavioural Diagnosis

• Has a doctor diagnosed any of the following psychiatric disorders? (Select all that apply.)

• Has a doctor diagnosed any of the following emotional or behavioral health problems? (Select all that apply.)

• Has a doctor diagnosed you with Attention Deficit Disorder (ADD) or Hyperactivity Disorder (ADHD)?

• Do you currently take stimulant or other medication (e.g. Ritalin, Metadate, Strattera, etc.) to treat your ADD or ADHD?

• Please list additional strategies, including any medications, you use to manage your psychiatric/behavioral diagnoses.

Tumor

• Have you ever been diagnosed with a benign (non-cancerous) tumor?

• Have you ever been diagnosed with any type of cancer (malignant tumor)?

Section 3: Quality of Life

• What kind of health insurance do you currently have?

• Have you had difficulty receiving any of the following services because your insurance does not cover them or the out of pocket expenses is too high? (Select all that apply.)

• How has myotonic dystrophy affected your family's finances?

• What is the highest level of education you have completed?

• Have you ever had an IEP (an individualized education program) at your school?

• What is your employment status?

• How many days of work have you missed due to symptoms of myotonic dystrophy in the past 12 months?

• How has myotonic dystrophy affected your employment? (Select all that apply.)

• Who is your primary caregiver (e.g. person who helps you manage activities of daily living)?

• How many days of work did your caregiver miss due to caring for you in the past 12 months?

• What is your current living condition?

• In general, would you say your health is...

• Does your health now limit you in doing vigorous activities (e.g. vigorous walking, dancing, etc.)?

• Which of the following best describes how your disease has changed since the last time you completed this survey?

Who will have access to my Registry information?

Your privacy is our priority. Only trained Registry managers will have access to your identifying information. You can set your sharing preferences for each survey that you complete. You can also change your sharing preferences at any time. All personal identifiers, such as your name or email address, are removed before your answers are shared. We built our systems to make sure your data is safeguarded.

In accordance with your contact preferences, your email address will only be used by Invitae for direct messages.

How will my identity be protected?

All personal identifiers, such as your name or email address, are removed before your information is shared unless you ask us to disclose your contact information.

Who owns the data?

You own your data. Patients opt in and choose to share their information, and they can just as easily opt out. We are grateful that so many Registry participants are willing to share their information to support research.

Who, besides me, can access the data?

With your permission, de-identified information is made available to the greater medical community, including non-profit organizations, advocacy groups, doctors, research scientists, medical investigators, regulatory agencies, pharmaceutical, biotech, and biomedical companies.

Can I withdraw if I change my mind?

Yes. You can change your sharing preferences or ask to withdraw your information from the Registry in full at any time. De-identified information shared before you leave the Registry cannot be recalled.

Who should I contact if I have any questions?

All of our contact information is available on the Contact Us page if you have any questions.

How will I learn about clinical trials?

Researchers cannot contact you directly. The Registry coordinator will send you information about a study or clinical trial by email. If you are interested, we will tell you how to get involved.

Does joining the Registry guarantee a spot in a clinical trial?

No, because every trial has specific participant criteria that must be met. The benefit of being part of a research-ready community is that it is easier to learn about trial opportunities and identify patients who are likely to fit the trial or study criteria.

Should I join the Registry if I don't want to be involved in a clinical trial?

Absolutely! Your survey and medical information can help the entire medical community, including people you've never met.

How much time does it take to participate?

Participating is easy and can be done whenever you have time. It takes less than ten minutes to set up an account. Survey completion times vary from five or ten minutes to an hour depending on the complexity of questions and the disease. If you need more time to finish a survey, you can save your answers and log in again later.

Will I be asked to provide more information in the future?

Yes. The data is most valuable when it is kept up-to-date. You will receive a reminder to update your information at least once a year and can make updates anytime you experience a health change or you have new information to post.

Will it cost anything to join this Registry?

No.

Who is the Myotonic Dystrophy Foundation?

The Myotonic Dystrophy Foundation was founded in California in 2007. Our mission is straightforward and comprehensive: To improve the quality of life of people living with myotonic dystrophy (DM) and accelerate the search for therapies and a cure.

We are headquartered in Oakland, CA in the San Francisco Bay Area. We have grown into the world’s largest DM-focused patient advocacy organization, serving thousands of individuals and families in more than 78 countries around the world.

The Myotonic Dystrophy Foundation has raised and invested more than $20 million to help improve the lives of people living with DM. We're also driving research and drug development initiatives that have expanded the number of companies investigating DM therapies to more than 45!