Osteogenesis Imperfecta
Conditions
Keywords
hearing loss, bisphosphonate, skeletal dysplasia, brittle bone disorder, osteogenesis imperfecta, OI
Brief summary
Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in their 20s. Bisphosphonates have been successfully used to treat otosclerosis, a common cause of hearing loss similar to OI-related hearing loss. As many individuals with OI-related hearing loss also present with otosclerosis and because of their mechanistic similarities, the investigators propose studying the effects of bisphosphonate treatment on individuals diagnosed with both OI type I and hearing loss, thereby determining its effectiveness as a potential treatment for hearing loss. The investigators will enroll 50 individuals diagnosed with type I OI and age 18-100. 25 adults will be enrolled into the treatment arm and receive bisphosphonate treatment (must have at least mild hearing loss), while 25 adults will be enrolled into the control arm. The investigators will enroll 25 children (6-17 years of age) diagnosed with OI who are currently receiving bisphosphonate treatment as part of their care for orthopedic symptoms. The investigators will also observe 25 children (6-17 years of age) diagnosed with OI who are NOT currently receiving bisphosphonate treatment. The study duration is 63 months (approximately 5 years). Enrollment is anticipated to begin in November 2019.
Interventions
DRUGRisedronate Oral Tablet
Oral bisphosphonate
Sponsors
Hospital for Special Surgery, New York
The New York Community Trust
East River Medical Imaging
Northwell Health
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
PREVENTION
Masking
NONE
Intervention model description
25 adults with type 1 OI and diagnosed hearing loss will be treated with oral risedronate. 25 adults with type 1 OI will be enrolled into the control arm.
Eligibility
Sex/Gender
ALL
Age
6 Years to 100 Years
Healthy volunteers
Yes
Inclusion criteria
(Adult Treatment Arm): * Diagnosis of OI type I * Diagnosis of at least mild hearing loss (\>20dB pure tone average) by audiogram testing * 18+ * Vitamin D level \> 30 Inclusion Criteria (Adult Control Arm): * Diagnosis of OI type I Inclusion Criteria (Child Observational Bisphosphonate Arm) * Diagnosis of OI * Age 6-17 years * Currently receiving bisphosphonate treatment as standard of care Inclusion Criteria (Child Observational No Treatment Arm) * Diagnosis of OI * Age 6-17 years * NOT receiving bisphosphonate treatment and will not receive bisphosphonate treatment for the duration of the study
Exclusion criteria
(ALL ARMS): * Family history of hearing-loss (not related to OI or occupational hearing loss) * Pregnancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Pure Tone Averages | Baseline, 3, 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 months | Average hearing thresholds at 250, 500, 1000, 2000, 3000, 4000, 8000 Hertz |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Speech Recognition Scores | Baseline, 3, 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 months | Lowest volume participant can hear and understand speech (decibels) |
| Word Recognition Scores | Baseline, 3, 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 months | Percent of words participants correctly repeat in word recognition test (%) |
| Hearing Handicap Inventory Raw Score | Yearly (Baseline, 12, 24, 36, 48, 60 months) | Score 0-40. Lower score is better. Adults (self-reported) |
| Tinnitus Handicap Inventory Score | Yearly (Baseline, 12, 24, 36, 48, 60 months) | Score 0-100. Lower score is better. Adults (self-reported). |
| Dizziness Handicap Inventory Score | Yearly (Baseline, 12, 24, 36, 48, 60 months) | Score 0-100. Lower score is better. Adults (self-reported). Incidence and impact of vertigo in study population. |
| SF-36 Scale and Summary Scores | Yearly (Baseline, 12, 24, 36, 48, 60 months) | Score 0-100. Higher score is better. Adults (self-reported) quality-of-life survey. |
| Pediatric Outcomes Data Collection Instrument (PODCI) Score | Yearly (Baseline, 12, 24, 36, 48, 60 months) | Score 0-100. Lower score is better. Children (ages 6-10 years), parent-reported. Assessment of overall health and functioning. |
| Adolescent Outcomes Questionnaire Score | Yearly (Baseline, 12, 24, 36, 48, 60 months) | Score 0-100. Lower score is better. Children (ages 11-17 years), parent- or self-reported. Assessment of overall health and functioning. |
| DEXA Z-score | Yearly (Baseline, 12, 24, 36, 48, 60 months) | Higher score is better. Relative Bone Density |
| DEXA Bone Mineral Density | Yearly (Baseline, 12, 24, 36, 48, 60 months) | Higher score is better. Bone Mineral Density (grams/centimeter\^2) |
Countries
United States
Contacts
CONTACTSu Htwe
CONTACTErin Carter, MS, CGC
PRINCIPAL_INVESTIGATORCathleen Raggio, MD
Hospital for Special Surgery, New York
Outcome results
None listed