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Recruiting NCT03333200

Longitudinal Study of Neurodegenerative Disorders

— Observational MLD Krabbe Disease ALD MPS I

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Palliative Care, Hematopoetic Stem Cell Transplantation.
Who it may be relevant to
Registry conditions: MLD, Krabbe Disease, ALD, MPS I. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.

Detailed description

Patients would be evaluated by a multidisciplinary team at specific time points every 3 months the first year, every 6 months the second year and once a year thereafter.

Interventions

  • Other Palliative Care
    Collecting information about the natural progression of these diseases
  • Biological Hematopoetic Stem Cell Transplantation
    Following patients who have received HSCT as part of their clinical care.

Primary outcome measures

  • Cognitive development [Time frame: 15 years]
  • Language development [Time frame: 15 years]
  • Gross Motor development . [Time frame: 15 years]
  • Fine Motor development [Time frame: 15 years]
  • Adaptive living skills [Time frame: 15 years]
Secondary outcome measures (2)
  • Exploratory biomarkers [Time frame: 15 years]
  • Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age [Time frame: 5 years]

Eligibility criteria

Inclusion criteria

  • Any patient with a genetic neurodegenerative disorder

Exclusion criteria

  • none

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 1 center
  • UPMC Children's Hospital of Pittsburgh — Pittsburgh

Identifiers

NCT: NCT03333200 · STUDY19020318

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗