Externally-Led Patient Focused Drug Development Meeting Speaker Questionnaire – Galactosemia Speaker Questionnaire - For Caregivers - NORD (National Organization for Rare Disorders)

1Demographic Information

2Impact

3Therapy & Clinical Trials

Complete one form for each patient individually.

Demographic Information

Name(Required)

First Last

Email(Required)

Address(Required)

Street Address Address Line 2 City State ZIP Code

Gender(Required)

What are your preferred pronouns?

Age of patient(Required)

What type of Galactosemia was the patient diagnosed with?(Required)

At what age was the patient diagnosed with Galactosemia?(Required)

Are you involved with any patient support communities or non-profits?

If yes, please list them here.

Do you have a conflict of interest?(Required)

A conflict of interest occurs when an individual's personal interests – family, friendships, financial, or social factors – could compromise his or her judgment, decisions, or actions in participation in this event.

As we develop programs and resources to empower our diverse community, we ask participants to select the response that best reflects their race and or ethnicity:

Impact

Please provide complete responses to the questions that apply to you and leave blank for those that are unrelated to your life with Galactosemia (i.e., school, work, and other questions may not pertain to your daily life).

Can you describe in detail the patient’s Galactosemia symptoms?(Required)

e.g. cataracts, speech/language, fine/gross motor skill delays, specific learning or cognitive/behavioral disabilities, primary ovarian insufficiency, etc.

Have any of the patient’s symptoms progressed over time?(Required)

Were there any related symptoms of Galactosemia that the patient didn’t realize until after diagnosis?(Required)

How has Galactosemia affected you and/or your family financially?

Has Galactosemia affected the patient’s ability to live independently? If so, how?(Required)

How has Galactosemia affected the patient’s relationships?(Required)

How has Galactosemia affected the patient’s career choice or ability to have a job?

How did Galactosemia impact the patient’s ability to complete school/the school day?

How does Galactosemia impact the patient’s activities outside of school or work?(Required)

How has Galactosemia affected the patient’s intimacy or reproductive health?

How has Galactosemia affected the patient’s mental health or stress level?(Required)

How else has Galactosemia affected the patient’s life?(Required)

On a scale of 1-10, 10 being severely and 1 being no impact, how much has Galactosemia impacted the patient’s life?(Required)

Please comment on the most significant way Galactosemia has impacted the patient’s life.(Required)

How long did it take the patient to receive an accurate diagnosis?(Required)

How many specialists were involved in the patient’s diagnosis?(Required)

What impact does care coordination have on your daily life?(Required)

Therapy & Clinical Trials

What is the patient currently doing to treat their Galactosemia condition and its symptoms?(Required)

Please elaborate on how well the patient’s current Galactosemia treatment supports the patient’s ability to live their best life.(Required)

What are the most significant disadvantages or complications of the patient’s current treatments, and how do they affect the patient’s daily life?(Required)

Please elaborate on any other complications that the patient has experienced from Galactosemia or its treatment.(Required)

What specialists does the patient see regularly as part of their care team?(Required)

Are you aware of the International Clinical Guidelines for the Management of Classical Galactosemia: Diagnosis, Treatment and Follow-up (2016)?

If yes, please explain.(Required)

What type of dietary guidelines does the patient follow?(Required)

What treatment options has the patient considered or undergone to date for Galactosemia symptoms?(Required)

If other, please explain.(Required)

Short of a complete cure for the patient’s condition, what specific things would the patient look for in an ideal treatment for Galactosemia?(Required)

Has the patient been enrolled in a Galactosemia clinical trial, registry or other research?(Required)

Would the patient consider participating in a gene therapy clinical trial?(Required)

If the patient had the opportunity to consider participating in a clinical trial studying experimental treatments, what things would they consider when deciding whether or not to participate?(Required)

How many physicians take an active role in the patient's care? And how does the management of this care impact the patient financially, emotionally, and physically?(Required)

Did you (or do you now) experience physicians who are unaware of galactosemia and you had to spend extra time advocating for the patient with the disease?(Required)

What assistive medical equipment or devices does the patient use on a daily basis?(Required)

Consent to share

I would like to share my name, contact information and responses with the Galactosemia Foundation for future awareness-raising activities.

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Externally-Led Patient Focused Drug Development Meeting Speaker Questionnaire – Galactosemia Speaker Questionnaire – For Caregivers

Demographic Information

Impact

Therapy & Clinical Trials

Alone we are rare. Together we are strong.®