Recruiting

Observational Study

Sponsor:

University of Pittsburgh

Code:

NCT03333200

Conditions

MLD

Krabbe Disease

ALD

MPS I

MPS II

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Palliative Care

Hematopoetic Stem Cell Transplantation

Study Details

Brief summary:

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.

Conditions

MLD

Krabbe Disease

ALD

MPS I

MPS II

Study ID

NCT03333200

Start date

Jan 11, 2012

Status verified date

Feb, 2026

Completion date

Jan, 2035

Anticipated

Primary completion date

Jan, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Any patient with a genetic neurodegenerative disorder

Exclusion Criteria:

  • none

Study Design

Enrollment

1500 participants

Anticipated

Interventions and Outcome Measures

Interventions

Palliative Care

Collecting information about the natural progression of these diseases

Hematopoetic Stem Cell Transplantation

Following patients who have received HSCT as part of their clinical care.

Primary outcome measure

  • 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 ]

Central Contacts and Locations

Central contacts

Deepa Rajan, MD

412-692-8388rajands@upmc.edu

Locations

UPMC Children's Hospital of Pittsburgh

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Contacts

Deepa Rajan, MD

412-692-8388rajands@upmc.edu

More Information

Sponsor

University of Pittsburgh

Last update posted

Feb 9, 2026

Last verified

Feb, 2026

Keywords

  • Pediatric
  • Rare
  • Neurodegenerative
  • Genetic
  • Neurodevelopment
  • Brain
  • MRI
  • Biorepository
  • NDRD
  • Longitudinal
  • Cognitive
  • Motor
  • Language
  • Adaptive behavior

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Pittsburgh on 2026-02-09.