E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
ALS (acid label subunit) deficiency |
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MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 12.1 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10056438 |
E.1.2 | Term | Growth Hormone Deficiency |
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E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
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. |
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E.2.2 | Secondary objectives of the trial |
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.
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal 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.
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E.4 | Principal 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).
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E.5 End points |
E.5.1 | 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.
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | No |
E.6.4 | Safety | No |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | Yes |
E.6.7 | Pharmacodynamic | Yes |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | Information not present in EudraCT |
E.7.1.2 | Bioequivalence study | Information not present in EudraCT |
E.7.1.3 | Other | Information not present in EudraCT |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | No |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | Yes |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | Information not present in EudraCT |
E.8.1.2 | Open | Information not present in EudraCT |
E.8.1.3 | Single blind | Information not present in EudraCT |
E.8.1.4 | Double blind | Information not present in EudraCT |
E.8.1.5 | Parallel group | Information not present in EudraCT |
E.8.1.6 | Cross over | Information not present in EudraCT |
E.8.1.7 | Other | Information not present in EudraCT |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | Information not present in EudraCT |
E.8.2.2 | Placebo | Information not present in EudraCT |
E.8.2.3 | Other | Information not present in EudraCT |
E.8.3 |
The trial involves single site in the Member State concerned
| No |
E.8.4 | The trial involves multiple sites in the Member State concerned | Yes |
E.8.4.1 | Number of sites anticipated in Member State concerned | 2 |
E.8.5 | The trial involves multiple Member States | No |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | No |
E.8.6.2 | Trial being conducted completely outside of the EEA | Information not present in EudraCT |
E.8.7 | Trial has a data monitoring committee | No |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
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When all investigations have been carried out |
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 0 |
E.8.9.1 | In the Member State concerned months | 2 |
E.8.9.1 | In the Member State concerned days | 0 |
E.8.9.2 | In all countries concerned by the trial months | 2 |