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KrabbeCURES

Globoid Cell Leukodystrophy (Krabbe disease)

Krabbe disease is a rare, genetic disorder caused by the accumulation of specific lipids throughout the body. At high levels, these lipids are toxic and lead to the destruction of brain and nerve cells.

The specific gene affected in Krabbe disease is the GALC gene. Defects in GALC lead to malfunction of the essential enzyme, galactocerebrosidase. Without this enzyme the lipids, galactocerebroside and psychosine, reach toxic levels, causing the breakdown of myelin – a core component of the nervous system that helps conduct electrical signals.

The severity and age of onset for Krabbe disease are dependent upon the exact genetic mutation. Infantile Krabbe disease (IKD) occurs before 12 months of age and is by far the most common and most severe, with the average survival being 2 years of life. Symptoms of Infantile Krabbe disease include severe deterioration of mental and motor skills, seizures, spasticity, clines, and difficulty with swallowing. The second most common form of Krabbe disease is Late-Infantile Krabbe disease (LIKD), with onset between 1-3 years of life. Some early symptoms may present with vision disturbances, slurred speech, abnormal gait and loss of previously achieved milestones. Although LIKD is less severe than IKD, patients do have motor and physical impairments.

In a relatively small number of patients, Krabbe disease does not appear until later in childhood or adolescence (between 4 to 18 years of age), and is known as Juvenile Onset Krabbe disease ( JOKD). The onset of symptoms can present quickly or slowly over time. There is also a variable rate at which the disorder progresses. Some of the early signs are loss of manual dexterity and fine-motor skills such as not being able to button a shirt and complaints about tingling or burning sensation in hands or feet.

Additionally, Adult Onset Krabbe disease (referred to as AOKD) is described as presenting in adults aged 19 and older. The onset of symptoms usually progresses slowly over time. In fact, many adults are often misdiagnosed or experience symptoms for a long time without a formal diagnosis. The early signs of AOKD are the same as JOKD.

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.

The purpose of the engagement study is to provide patient reported information:

  1. To further understand the burden of Krabbe disease
  2. To expand newborn screening (NBS) to all 50 US states and the UK
  3. To obtain IRB approved data for patients/caregiver perspectives on transplant and gene therapy
  4. Other 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

What types of data will be collected in KrabbeCURES?

KrabbeCURES collects data on the following topics:

  • Socio-demographics
  • Medical history and diagnostics
  • Treatment and disease progression
  • Management of care
  • Quality of life
  • Outcomes of transplant and gene therapy

Is the data secure?

KrabbeCURES follows strict government guidelines to assure patient information is protected. The platform is served over HTTPS, which means that the data is encrypted when being sent from the user’s browser to the NORD servers. The data is also kept encrypted in the NORD database (data at rest). Communications between the study platform application server and the database are also encrypted. As with any information one provides electronically, there is a very rare chance that privacy could be compromised. However, the study and the security measures minimize the chance of this occurring.