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The Natural History Of Metachromatic Leukodystrophy Study – FAQs

What is the purpose of the HOME Study?

The purpose of the Natural History OMEtachromatic 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?

You can enroll in the HOME Study by registering here

What types of data will be collected in the HOME Study? 

The data collected is uniform and includes but is not limited to  

  • Demographics  
  • Patient and family medical history  
  • Diagnostic information 
  • Symptoms  
  • Treatment   
  • 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. 

The app will be launched in Fall of 2020.

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.


 

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.”