ALS (acid label subunit) deficiency MedDRA version: 12.1 Level: LLT Classification code 10056438 Term: Growth Hormone Deficiency
Conditions
Interventions
Trade Name: INCRELEX
Product Name: Increlex
Pharmaceutical Form: Solution for injection
Sponsors
University Hospital Birmingham NHS Foundation Trust
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: PK/PD study arm: Patients with confirmed IGFALS gene mutations, able to give informed consent Cross-sectional study arm: Heterozygous first-degree relatives, able to give informed consent. Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: PK/PD study arm: Patients currently receiving IncrelexTM treatment, patients allergic to Increlex, patients with cancer Cross-sectional study arm: Individuals suffering from cancer or chronic inflammatory conditions (e.g. chronic rheumatoid arthritis, inflammatory bowels disease).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To determine the amount and duration of response in free IGF-1 after a single injection of rhIGF-1 in three patients with ALS deficiency due to an IGFALS gene mutation. ;Secondary Objective: 1) To determine the pharmacokinetic (PK) and pharmacodynamic (PD) parameters for subcutaneously injected rhIGF-I in ALS deficient individuals, including change in fasting and postprandial insulin levels. 2) To determine insulin sensitivity of the patients and heterozygous siblings and parents. 3) To determine whether bone density and bone geometric variables are abnormal the patients and their siblings and parents. 4) To assess the relation between variables of insulin sensitivity, IGF-I levels, bone strength and molecular genetic results (IGFALS gene mutation hetero- or homozygocity). 5) To assess metacarpal cortical thickness by radiography. ;Primary end point(s): • Pharmacokinetic variables: Area under the curve for total and free IGF-1, half-life, IGF-1 clearance rate & production rate. • Pharmacodynamic variables: Change in serum free and total IGF-1, IGFBP-3, change in blood glucose and insulin. | — |
Countries
United Kingdom
Outcome results
None listed