About KrabbeCURES

Globoid Cell Leukodystrophy (Krabbe disease)

Krabbe disease is a rare hereditary leukodystrophy caused by a deficiency of the galactocerebrosidase (GALC) enzyme. As a result of the deficient enzyme, complex fatty substances are unable to be broken down (metabolism) and the storage causes pathologic changes, most notably the formation of globoid cells and the loss of the protective coating surrounding the nerves known as the myelin sheath. The myelin-covered nerve fibers are known as the white matter of the brain. Krabbe disease slowly damages the white matter (myelin sheath), as well as the rest of the central nervous system (CNS) (e.g., brain and spinal cord) and the peripheral nervous system, which consists of the nerves outside the CNS.

Classic-Infantile Krabbe disease (IKD) is the most severe form affecting ~85-90% of all cases. The course of Late-Onset Krabbe disease (LOKD) is mostly associated with clinical deterioration of 3 years or later, including adolescence and adulthood. There is a wide range of disease symptoms impacting the age of onset and disease severity. Some of the key characteristics associated with Infantile Krabbe disease are: extreme irritability (above and beyond colic), sensitivity to sound (easily startles), severe acid reflux-appearing to not keep a majority of feedings down, loss of milestones (no longer smiles), as well as muscle stiffness or rigidity. The clinical symptoms of Late-Onset Krabbe disease are quite varied but some notable characteristics include: loss of manual dexterity and fine-motor skills, complains about tingling or burning sensation in hands (peripheral neuropathy), appears to trip easily (gross motor skills), and decreased mental acuity. In both categories of Krabbe disease, IKD and LOKD, both will continue to endure advanced clinical symptoms related to the degeneration of the myelin sheath. These symptoms include seizures, blindness, the inability to eat by mouth, progressive rigidity of the arm and leg muscles, and difficulty maintaining a normal body temperature. These clinical symptoms are known to cause life-threatening complications resulting in death. In the United States, Krabbe disease has been reported to affect approximately 1 in 100,000 individuals. Krabbe disease is inherited in an autosomal recessive manner. For a child to be affected by an autosomal recessive disorder, two copies of the abnormal gene must be present; one copy of the abnormal gene inherited from the mother and one copy of the abnormal gene inherited from the father.

A patient registry is an online data system that systematically collects, stores, and retrieves patient data for analysis in research studies. The purpose of the engagement study is to provide patient reported information:

1. To further understand the burden of Krabbe disease
2. To fill gaps in newborn screening (NBS) to meet recommended uniform screening panel (RUSP) qualifications
3. To obtain IRB approved data for patients/caregiver perspectives on transplant and gene therapy
4. Others items to be determined as the engagement study progress over time

KrabbeCURES is a data-collection study for patients around the world to share information about globoid cell leukodystrophy (Krabbe disease) and serves as an international resource that can be used by researchers in industry and academia and, to inform and accelerate regulatory approval of therapies.

KrabbeCURES will achieve these objectives by:
● Providing a convenient online platform for patients or their legally authorized representative to report cases of rare diseases
● Systematically gather information to fill current gaps in research around newborn screening, transplantation, and gene therapy
● Characterizing and describing the Krabbe disease population as a whole
● Assisting the rare disease community with the development of recommendations for standards of care
● Assisting researchers studying the pathophysiology of rare diseases
● Supporting the design of clinical trials that explore new rare disease treatments

Frequently Asked Questions

What types of data will be collected in KrabbeCURES?

The data collected is uniform and includes but is not limited to
● Socio-demographics
● Diagnostics
● Treatment and disease progression
● Management of care
● Quality of life
● Symptoms
● Diagnostic odyssey

How is the data collected? Is the data secure?

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. KrabbeCURES follows strict government guidelines to assure patient information is protected. The NORD IAMRARE™ platform is served over HTTPS, providing encryption of traffic to prevent eavesdropping and man-in-the-middle attacks. Communication between the NORD platform application server and the database are also encrypted.

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 globoid cell 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. 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 (OHRP) 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.” (https://www.hhs.gov/ohrp/regulations-and-policy/guidance/faq/informed-consent/index.html)

Who can join the study?

This study is open to anyone who has a confirmed diagnosis of globoid cell leukodystrophy (Krabbe disease).

Is there a cost to participate?

There is no cost to the patient to join this study. The KrabbeCURES sponsor absorbs the cost of the study for its members.

Click here for a complete list of frequently asked questions.