Growth Hormone Treatment in Patients With Aggrecan (ACAN) Deficiency
Short Stature
Bottom Line
View on ClinicalTrials.gov: NCT03288103 ↗Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- Norditropin (Drug)
- Age
- Pediatric, Adult, Older Adult · 2+ yrs
- Sex
- All
- Sponsor
- Children's Hospital Medical Center, Cincinnati
- Primary completion
- Mar 2023
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Height Standard Deviation Score |
-2.52; -1.57; -1.19; -1.09 | — |
| PRIMARY Height Velocity After Three Years of Treatment With Recombinant Human Growth Hormone (rhGH) |
5.2; 8.3; 7.7; 6.8 | — |
| SECONDARY Number of Participants With Clinical Features of ACAN Deficiency - Osteochondritis Dissecans |
3; 1 | — |
| SECONDARY Number of Participants With Clinical Features of ACAN Deficiency - Osteoarthritis |
0; 8 | — |
Summary
Eligibility Criteria
Inclusion Criteria
- ACAN Deficiency - Patients must be heterozygous for a mutation in the ACAN gene. A mutation will be defined as:
a. A heterozygous deletion of the entire gene or of >1 complete exons of the gene b. Any truncating mutation including frameshift, nonsense, splice site mutations within 2 bases of the exon/intron boundary, and start loss variants c. Any missense mutation which meets the following criteria: i. It is absent in the Exome Aggregation Consortium Database (exac.broadinstitute.org) ii. It is predicted to be damaging by both Polyphen2 and Sorting Intolerant From Tolerant (SIFT) iii. It segregates with the short stature phenotype in the family or is a de novo mutation d. In-frame insertions or deletions of >1 amino acid e. In-frame insertions or deletions of 1 amino acid must meet the same criteria as missense mutations. For the prediction programs, Alanine will be substituted for the deleted amino acid.
f. Note - Retrospective data does not show any correlation between the type of mutation and the severity of short stature. Therefore, all mutations meeting the above criteria will be included as a single group.
- Age - Greater than or equal to 2 years 0 days. There is no specific upper age limit, but the onset of puberty will make the patient ineligible.
- Pre-pubertal
- Male subjects must have a testicular volume 400 micrograms of inhaled budesonide per day or equivalent F. Taking daily oral glucocorticoids for any reason G. Note - attention deficit hyperactivity disorder (ADHD) treated with a stimulant and treated hypothyroidism with a normal thyroid stimulating hormone (TSH) will not exclude the subject from participating in the trial.
- (BMI) <5th percentile (CDC growth charts)
- Any clinically significant abnormality on screening laboratory tests as determined by the principal investigator.
- Known or suspected allergy to trial medication, excipients, or related products.
- Contraindications to study medications, worded specifically as stated in the product's prescribing information.
- The receipt of any investigational drug within 90 days prior to this trial.
Data sourced from ClinicalTrials.gov (NCT03288103). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.