The Natural History Of Metachromatic Leukodystrophy Study – FAQs
What is the purpose of the HOME Study?
The purpose of the Natural History Of MEtachromatic Leukodystrophy (HOME) Study is to enable MLD patients and caregivers to contribute directly to research from the comfort and safety of their home, and to expand the use of natural history data to support novel clinical trial designs, patient participation in clinical studies, and virtual research opportunities across rare diseases.
How do I enroll in the HOME Study?
What types of data will be collected in the HOME Study?
The data collected is uniform and includes but is not limited to
- Patient and family medical history
- Diagnostic information
- Disease progression
- Management of care
- Medical visits and hospitalizations
- Quality of life
- Participation in clinical trials
- Participant feedback on their experience with the HOME Study
What procedures are involved in the HOME Study?
Participants will be asked to complete surveys and participate in a video assessment with our study coordinator every three months (baseline, 3, 6, 9, and 12 months). Most visits will require no more than 60 minutes of your time. In addition, participants will be asked to participate in an optional SHAPE app, which will collect health event data and the study’s primary endpoint.
How is the data collected?
Data is collected through a secure web-based system developed by the National Organization for Rare Disorders (NORD), an independent non-profit committed to the identification, treatment, and cure of rare diseases. Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts. Data will also be collected via telephone and video-based assessments by the Study Coordinator at baseline (first visit) and at three (3), six (6), nine (9), and twelve (12) months after study enrollment.
Participants will also have the opportunity to provide information in a mobile app designed specifically for this study.
Who can join the study?
This study is open to anyone who has a confirmed diagnosis of metachromatic leukodystrophy.
Is there a cost to participate? How long am I required to participate?
There is no cost to the patient to join this study. The HOME Study sponsors absorb the cost of the study for its members. After enrolling, you will participate for approximately one year.
Can data be collected worldwide?
This study uses an online platform which allows participants to contribute data from anywhere in the world. Individuals from other countries who enter data into the HOME Study should be aware that data and privacy laws are different in the U.S. from other countries. This US based study will protect data and privacy according to US requirements.
My child is enrolled in another natural history study (or another drug trial or gene therapy trial). Can they still participate in the HOME Study?
Yes! As long as the participant/respondent speaks English and has a confirmed MLD diagnosis (regardless of current symptoms or lack thereof), there is no exclusion for participating in the HOME Study, even if enrolled in another natural history study or actively receiving an interventional treatment. The HOME Study is tracking the disease progression of MLD patients in a variety of settings, including those receiving both on-label and off-label uses of therapeutic treatment.
My child is already enrolled in another MLD Natural History Study (NHS). Why would it be important to participate in both studies?
The goal of a natural history study is to better understand a disease and its progression over time for those impacted. Many natural history studies are designed simply to collect data, and this data is not always made readily available for the broader MLD research community. The HOME Study was built with input from patients, caregivers, researchers, and the FDA – with the specific goal that it would mirror randomized clinical trials so that the data set could be used to accelerate the advancement of FDA-approved therapies.
A key value of the study is to make the data accessible to researchers and share what we have learned with the community so that we can all work together toward a cure and/or treatment. Participating in NORD’s natural history study is valuable as it may be an opportunity to share an even greater amount of data with a variety of researchers who are all focused on learning about finding a cure for MLD.
My child has MLD but does not have any symptoms. Are they still eligible to be enrolled in the study?
Yes! Sometimes a patient may have MLD but show no symptoms because of medical treatment or due to early testing (such as when the younger sibling of a child with MLD gets tested). We are enrolling patients with MLD diagnosis who display symptoms (no matter the stage of their disease progression), and those who have no symptoms as well.
What is a Natural History Study?
A natural history study is a study designed to track the course of a disease over time and includes participants who have a specific medical condition or disease and those who are at risk of developing such. This method of research explores the disease in a comprehensive way and identifies demographic, genetic, environmental and other variables that correlate with the disease and its outcomes. Natural history studies have many potential uses such as patient care best practice developments and clinical trial recruitment.
What is a Research Study Sponsor?
An individual, company, institution, or organization that takes responsibility for choosing appropriately trained and experienced researchers as well as the initiation, management, and/or financing of a clinical trial. The study sponsor ensures that the study is conducted in a reputable manner and upholds regulations as they apply to the study.
This study is sponsored by NORD with support from the United States Food and Drug Administration Center for Biologics Evaluation and Research (CBER)
What is a Principal Investigator?
The Principal Investigator is the research group leader or the person with the primary responsibility for the design and conduct of the research project or study.
What is an Institutional Review Board (IRB)?
An institutional review board is a board, committee, or other group formally designated by an institution or investigator to review, approve the initiation of, and to conduct periodic review of research involving human subjects. The primary purpose of such review is to assure the protection of the rights and welfare of the human subjects. Also known as Ethics Committee (EC).
Who is a study participant?
A study participant is the individual who takes part in a research study and whose information is collected for that research, i.e. the individual with a diagnosis of metachromatic leukodystrophy. Study participants may consent to enter and share their own personal data.
Who is a reporter/respondent?
A reporter/respondent is an individual who completes the surveys on behalf of the patient/study participant when they are unable to do so on their own behalf.
What is a legally authorized representative (LAR)?
An individual who is authorized under applicable law to consent on behalf of a prospective subject to the subject’s participation in the clinical trial is known as a legally authorized representative (LAR). The LAR may be a parent, grandparent, caregiver, or guardian who has the legal authority to grant consent on behalf of another who is eligible to participate in research. When a LAR acts on behalf of a study participant, he/she is considered to be the reporter/respondent in the research.
What is an Informed Consent?
The Office for Human Research Protections states that, “The informed consent process is the critical communication link between the prospective human subject and an investigator beginning with the initial approach of an investigator to the potential subject (e.g. through a flyer, brochure, or any advertisement regarding the research study) and continuing until the completion of the research study. The informed consent process involves three key features: (1) disclosing to potential research subjects’ information needed to make an informed decision; (2) facilitating the understanding of what has been disclosed; and (3) promoting the voluntariness of the decision about whether or not to participate in the research.”