CompletedNot Applicable

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

United States46 participantsStarted 2018-07-30

Plain-language summary

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.

Who can participate

Age range

1 Day – 120 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. Individuals previously enrolled in 97-CH-0064, or other NIH OI study protocols for whom childhood data were collected at the NIH.
. Individuals from birth to age 12 years at enrollment to this protocol 18-CH-0120 with
. A mutation in one allele of genes causing autosomal dominant OI types
. at least one mutation in genes that are indicative of the autosomal recessive OI types.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Clinical course, underlying pathogenesis, and comorbidities in the assessed systems in individuals with OI

Timeframe: Ongoing

Correlation of genotype and phenotype

Timeframe: Ongoing

Causes of morbidities in individuals with OI

Timeframe: Ongoing

Trial details

NCT IDNCT03575221

SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2024-01-30

View on ClinicalTrials.gov More Osteogenesis Imperfecta trials

Plain-language summary

Who can participate

Age range

1 Day – 120 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. Individuals previously enrolled in 97-CH-0064, or other NIH OI study protocols for whom childhood data were collected at the NIH.
. Individuals from birth to age 12 years at enrollment to this protocol 18-CH-0120 with
. A mutation in one allele of genes causing autosomal dominant OI types
. at least one mutation in genes that are indicative of the autosomal recessive OI types.