Make sure you filled the first questionnaire, before filling the present: https://forms.gle/USL6YjSKaYqLxWbe8. Thanks!

This form is designed to help us to better comprise the problems you have with the rare disease: Lysosomal Acid Lipase Deficiency. We ask these questions to everyone who suffer LAL-D and family members of patients diagnosed with  LAL-D so we can get a better idea of the type of help we can provide. Please try to answer all the questions as meticulously as possible.

Family members of patients with LAL-D are important for this study, as we take into account mutations that they may have. People with a mutation in the LIPA gene have more probability to have clinical manifestations, usually milder, than those who don't have the mentioned mutation.

To carry out this survey, it is advisable to have at hand all your blood tests carried out to date. To develop the solution and to be able to better understand the case of each one, we need you to introduce some biomarkers from the blood tests.

As the questionnaire is based on the respondent's self-report, the final results should be verified by a physician, because the result depends on how well the patient/patient´s family member understood the questionnaire, as well as it might require other relevant family information, patient records, and other sources.

The person completing this form acknowledges and agrees that: (i) the information requested in this form is provided voluntarily, (ii) the information provided in this form is confidential, (iii) if you provide us with your e-mail address and/or telephone number, the "BD Care" professional may contact the person who has completed the form for further collaboration (iv) ¨BD Care¨ processes your data in accordance with the General Data Protection Regulation (GDPR) and country specific regulations. ¨BD care¨ will use data from this questionnaire to establish contacts with LAL-D patients and their families and not for any research until official consent received in addition.  BD Care treats your data in compliance with the European GDPR regulations.

This survey has been endorsed and supervised by the BD Care Research medical team.