Newborn Screening for Adrenoleukodystrophy

NCT02952482 | Completed

• 1 other identifier: 201603025RIND
• Study Type: observational
• Target: 45,796
• Locations: 1 country
• Sites: 1

Brief Summary

To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)

Conditions

Adrenoleukodystrophy

Keywords

adrenoleukodystrophy; C26:0-lyso-PC

Outcome Measures

Primary Outcomes (1)

• numbers of newborn with ALD

  12 months

Study Arms (1)

newborns testing for ALD

newborns testing for ALD

Procedure: newborns testing for ALD

Interventions

newborns testing for ALD PROCEDURE

Routine newborn screening dried blood spots sample is used to test if elevation of C26:0-lyso-PC

newborns testing for ALD

Eligibility Criteria

• Age: 2 Days - 3 Months
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

newborns whose parents agree to be tested

You may qualify if:

• Babies born in Taiwan receive regular newborn screening suggested by Ministry of Heath and Welfare.
• Parents or Legal Guardian sign in the informed consent form.

You may not qualify if:

• Parents or Legal Guardian do not agree to sign in the informed consent form.

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

National Taiwan University Hospital

Taipei, 100, Taiwan

Location

MeSH Terms

Conditions

Adrenoleukodystrophy

Interventions

ATP Binding Cassette Transporter, Subfamily D, Member 1

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Demyelinating Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Peroxisomal Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Insufficiency; Adrenal Gland Diseases; Endocrine System Diseases

Intervention Hierarchy (Ancestors)

ATP Binding Cassette Transporter, Subfamily D; ATP-Binding Cassette Transporters; Membrane Glycoproteins; Glycoproteins; Glycoconjugates; Carbohydrates; Membrane Transport Proteins; Carrier Proteins; Proteins; Amino Acids, Peptides, and Proteins; Membrane Proteins

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 31, 2016
• First Posted: November 2, 2016
• Study Start: November 1, 2016
• Primary Completion: August 1, 2017
• Study Completion: August 1, 2017
• Last Updated: July 12, 2018

Record last verified: 2017-07

Data Sharing

• IPD Sharing: Will not share

Locations

TW (1)