Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

The recruitment status of this study is unknown because the information has not been verified recently.
Verified October 2003 by Office of Rare Diseases (ORD).
Recruitment status was  Active, not recruiting
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: June 2, 2000
Last updated: June 23, 2005
Last verified: October 2003

OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory cytokines and for the production of nitric oxide by alveolar macrophages to identify possible risk factors for pulmonary complications.

II. Investigate the underlying mechanism for the development of significant pulmonary complications in these patients during HSCT.

III. Evaluate bronchoalveolar lavage fluid and serum obtained from these same patients at the time a pulmonary complication develops post-HSCT, or at 60 days post-HSCT if there has been no pulmonary complications.

I Cell Disease
Globoid Cell Leukodystrophy
Niemann-Pick Disease
Pulmonary Complications
Mucopolysaccharidosis I
Mucopolysaccharidosis VI
Metachromatic Leukodystrophy
Gaucher's Disease
Wolman Disease

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:

Genetics Home Reference related topics: CASK-related intellectual disability CHMP2B-related frontotemporal dementia Chanarin-Dorfman syndrome D-bifunctional protein deficiency GRN-related frontotemporal dementia Gaucher disease Krabbe disease MECP2 duplication syndrome Niemann-Pick disease PPM-X syndrome Renpenning syndrome SYNGAP1-related intellectual disability Schindler disease Wolman disease X-linked adrenoleukodystrophy alpha-mannosidosis alpha-methylacyl-CoA racemase deficiency cholesteryl ester storage disease familial glucocorticoid deficiency frontotemporal dementia with parkinsonism-17 fucosidosis inclusion body myopathy with early-onset Paget disease and frontotemporal dementia leukoencephalopathy with vanishing white matter megalencephalic leukoencephalopathy with subcortical cysts metachromatic leukodystrophy mucolipidosis II alpha/beta mucopolysaccharidosis type I mucopolysaccharidosis type VI peroxisomal acyl-CoA oxidase deficiency succinic semialdehyde dehydrogenase deficiency
U.S. FDA Resources

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment: 10
Study Start Date: August 1999
Detailed Description:


Patients undergo bronchoscopy with bronchoalveolar lavage (BAL) prior to allogeneic hematopoietic stem cell transplantation (HSCT). ELISA assays for cytokines are performed. Patients are followed post-HSCT for the development of transplant related pulmonary complications. A repeat bronchoscopy with BAL is performed at the time pulmonary complications develop or at day 60 post-HSCT if no complications develop. Cytokine assays are repeated.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • Diagnosis of an inborn error of metabolism eligible for allogeneic hematopoietic stem cell transplantation on protocol UMN-MT-1995-01
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Please refer to this study by its identifier: NCT00005900

United States, Minnesota
Fairview University Medical Center
Minneapolis, Minnesota, United States, 55455
Sponsors and Collaborators
Fairview University Medical Center
Study Chair: K. Scott Baker Fairview University Medical Center
  More Information Identifier: NCT00005900     History of Changes
Other Study ID Numbers: 199/15111  UMN-MT-1999-18  UMN-MT-9818 
Study First Received: June 2, 2000
Last Updated: June 23, 2005
Health Authority: Unspecified

Keywords provided by Office of Rare Diseases (ORD):
Gaucher's disease
I cell disease
Niemann-Pick disease
Wolman disease
disease-related problem/condition
genetic diseases and dysmorphic syndromes
globoid cell leukodystrophy
inborn errors of metabolism
metachromatic leukodystrophy
mucopolysaccharidosis I
mucopolysaccharidosis VI
oncologic disorders
pulmonary complications
rare disease

Additional relevant MeSH terms:
Aphasia, Primary Progressive
Frontotemporal Dementia
Gaucher Disease
Leukodystrophy, Globoid Cell
Leukodystrophy, Metachromatic
Mannosidase Deficiency Diseases
Mucopolysaccharidosis I
Mucopolysaccharidosis VI
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Niemann-Pick Diseases
Pick Disease of the Brain
Wolman Disease
Adrenal Gland Diseases
Adrenal Insufficiency
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Carbohydrate Metabolism, Inborn Errors
Central Nervous System Diseases
Cholesterol Ester Storage Disease
Communication Disorders
Connective Tissue Diseases
Demyelinating Diseases processed this record on May 26, 2016