Osteoporosis Pseudoglioma Syndrome
Conditions
Keywords
osteoporosis pseudoglioma, OPPG, growth hormone, osteoporosis
Brief summary
Osteoporosis pseudoglioma (OPPG) syndrome is a rare autosomal recessive condition of childhood osteoporosis and congenital blindness for which new treatments are needed. We have found that body fat is increased in OPPG and muscle mass is reduced. We hypothesize that growth hormone therapy will improve muscle mass and bone strength in OPPG.
Detailed description
Osteoporosis pseudoglioma (OPPG) syndrome is a rare autosomal recessive condition of childhood osteoporosis and congenital blindness for which new treatments are needed. We have found that body fat is increased in OPPG and muscle mass is reduced. We hypothesize that growth hormone therapy will improve muscle mass and bone strength in OPPG.
Interventions
BIOLOGICALHuman recombinant growth hormone
growth hormone treatment for 6 months (daily, weight based)
Sponsors
Children's Hospital of Philadelphia
University of Maryland, Baltimore
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
4 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Osteoporosis pseudoglioma syndrome * Age 4 years and above * not on medication for osteoporosis
Exclusion criteria
* pregnant * Age under 4 yrs * Active malignancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Bone quality by pQCT | 6 months | By pQCT: periosteal circumference, cortical density, trabecular density, section modulus |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Body fat percent | 6 months | Percent body fat by DXA |
Countries
United States
Outcome results
None listed