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Protocol Details

A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

18-CH-0120

Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 0
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Osteogenesis Imperfecta;
Collagen;
Short Stature

Recruitment Keyword(s)

None

Condition(s)

Osteogenesis Imperfecta;
Short Stature

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Child Health and Human Development

Background:

Osteogenesis Imperfecta (OI) is a connective tissue disorder. OI affects many aspects of a person s health and growth. It can cause frequent fractures, short stature, and bowing of the long bones. There is no known cure for OI so researchers want to learn more about it.

Objectives:

To obtain a natural history of the course of OI. To find changes in genes that affect the disease.

Eligibility:

People from birth to age 12 years with certain types of OI

People who previously had childhood data collected in certain other protocols

Design:

Participants will stay in the clinic for a few days each visit. Visits will be about every 3-4 months to age 5 then about every 6-12 months. Visits may include:

Medical history

Physical exam

Hearing test

Dental exam

Blood, urine, and heart tests

Breathing measured while wearing a clear plastic hood for about 30 minutes

Tests of motion, strength, and motor skills

X-rays of the left hand, chest, legs, and spine

Bone density scan. Participants will lie on a flat table while a very small dose of x-rays is passed through the body.

Computed tomography and magnetic resonance imaging scans. Participants will lie on an exam table that moves in and out a scanner.

Breathing tests using stickers on the chest, a light probe on a finger or foot, and a face mask

Ultrasound of the kidneys, ureters, and bladder

Questionnaires

A small section of skin removed from the arm or thigh

For some tests, participants may take medicine to make them sleepy.

Participants may give separate consent for photos to be taken.

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Eligibility

INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet either #1 OR #2 of the following criteria:

1. Individuals previously enrolled in 97-CH-0064, or other NIH OI study protocols for whom childhood data were collected at the NIH.

OR

2. Individuals from birth to age 12 years at enrollment to this protocol 18-CH-0120 with

a diagnosis of any of OI type III - XVIII or potential additional types.

Diagnosis of OI determined by identification of:

a. A mutation in one allele of genes causing autosomal dominant OI types

(COL1A1, COL1A2, or IFITM5), OR

b. at least one mutation in genes that are indicative of the autosomal recessive OI types.

OR

Individuals with a clinical diagnosis of OI, and a mutation in one of the above genes identified through the Rare Bone disease screening protocol (04-CH-0077).

EXCLUSION CRITERIA:

- Individuals with the diagnosis of OI Type I.

- Individuals who cannot travel to the NIH because of their medical condition.

- Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.

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There are no exclusionary criteria related to race or gender for this protocol.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Joan C. Marini, M.D.
National Institute of Child Health and Human Development (NICHD)



Joan C. Marini, M.D.
National Institute of Child Health and Human Development (NICHD)
BG 49 RM 5A52
49 CONVENT DR
BETHESDA MD 20814
(301) 594-3418
marinij@cc1.nichd.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT03575221

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