NCT03333200

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,500

participants targeted

Target at P75+ for all trials

Timeline
106mo left

Started Jan 2012

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress62%
Jan 2012Jan 2035

Study Start

First participant enrolled

January 11, 2012

Completed
5.3 years until next milestone

First Submitted

Initial submission to the registry

April 24, 2017

Completed
7 months until next milestone

First Posted

Study publicly available on registry

November 6, 2017

Completed
12.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2030

Expected
5 years until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2035

Last Updated

February 9, 2026

Status Verified

February 1, 2026

Enrollment Period

18 years

First QC Date

April 24, 2017

Last Update Submit

February 4, 2026

Conditions

S-Adenosylhomocysteine Hydrolase DeficiencyMLDKrabbe DiseaseALDMPS IMPS IIMPS IIIVanishing White Matter DiseaseGM3 GangliosidosisPKANTay-Sachs DiseaseNP DeficiencyOsteopetrosisAlpha-MannosidosisSandhoff DiseaseNiemann-Pick DiseasesMPS IVGaucher DiseaseGANGM1 GangliosidosesMorquio DiseaseBatten DiseasePelizaeus-Merzbacher DiseaseLeukodystrophyLysosomal Storage DiseasesPurine Nucleoside Phosphorylase DeficiencyMultiple Sulfatase Deficiency Disease

Keywords

PediatricRareNeurodegenerativeGeneticNeurodevelopmentBrainMRIBiorepositoryNDRDLongitudinalCognitiveMotorLanguageAdaptive behavior

Outcome Measures

Primary Outcomes (5)

  • Cognitive development

    Repeated standardized age equivalent scores.

    15 years

  • Language development

    Repeated standardized age equivalent scores.

    15 years

  • Gross Motor development .

    Repeated standardized age equivalent scores.

    15 years

  • Fine Motor development

    Repeated standardized age equivalent scores.

    15 years

  • Adaptive living skills

    Repeated standardized age equivalent scores.

    15 years

Secondary Outcomes (2)

  • Exploratory biomarkers

    15 years

  • Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age

    5 years

Interventions

Palliative CareOTHER

Collecting information about the natural progression of these diseases

Hematopoetic Stem Cell TransplantationBIOLOGICAL

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

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Persons with genetic neurodegenerative diseases.

You may qualify if:

  • Any patient with a genetic neurodegenerative disorder

You may not qualify if:

  • none

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

NDRD Biorepository includes: blood plasma and serum, CSF, brain and other tissues

MeSH Terms

Conditions

Leukodystrophy, Globoid CellSudden Infant DeathMucopolysaccharidosis IIILeukoencephalopathiesTay-Sachs DiseasePurine Nucleoside Phosphorylase DeficiencyOsteopetrosisalpha-MannosidosisSandhoff DiseaseNiemann-Pick DiseasesMucopolysaccharidosis IVGaucher DiseaseHypermethioninemiaNeuronal Ceroid-LipofuscinosesPelizaeus-Merzbacher DiseaseLysosomal Storage DiseasesMultiple Sulfatase Deficiency DiseaseLanguage

Interventions

Palliative Care

Condition Hierarchy (Ancestors)

Hereditary Central Nervous System Demyelinating DiseasesBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesSphingolipidosesLysosomal Storage Diseases, Nervous SystemDemyelinating DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism DisordersDeath, SuddenDeathPathologic ProcessesPathological Conditions, Signs and SymptomsInfant DeathMucopolysaccharidosesCarbohydrate Metabolism, Inborn ErrorsMucinosesConnective Tissue DiseasesSkin and Connective Tissue DiseasesGangliosidoses, GM2GangliosidosesOsteosclerosisOsteochondrodysplasiasBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesMannosidase Deficiency DiseasesHistiocytosis, Non-Langerhans-CellHistiocytosisLymphatic DiseasesHemic and Lymphatic DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesGenetic Diseases, X-LinkedSulfatidosisCommunicationBehavior

Intervention Hierarchy (Ancestors)

Patient CareTherapeuticsHealth ServicesHealth Care Facilities Workforce and Services

Central Study Contacts

Deepa Rajan, MD

CONTACT

412-692-8388rajands@upmc.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Associate Professor

Study Record Dates

First Submitted

April 24, 2017

First Posted

November 6, 2017

Study Start

January 11, 2012

Primary Completion (Estimated)

January 1, 2030

Study Completion (Estimated)

January 1, 2035

Last Updated

February 9, 2026

Record last verified: 2026-02

Locations

US(1)