Clinical trial • Phase IV • Neurology|Rare Disease

Deflazacort for Laminopathies | LMNA-related congenital muscular dystrophy (L-CMD) | Emery-Dreifuss muscular dystrophy (EDMD2)

Phase IV trial of Deflazacort for Laminopathies | LMNA-related congenital muscular dystrophy (L-CMD) | Emery-Dreifuss muscular dystrophy (EDMD2).

Overview

Trial Therapeutic Area
Neurology|Rare Disease
Trial Disease
Laminopathies | LMNA-related congenital muscular dystrophy (L-CMD) | Emery-Dreifuss muscular dystrophy (EDMD2)
Trial Stage
Phase IV
Drug Modality
Small molecule
Paediatric Trial
Yes

Key dates

Initial CTIS Submission Date
15-11-2024
First CTIS Authorization Date
21-01-2025

Trial design

Phase IV trial across 6 sites in Italy.

Target Sample Size
20

Eligibility

Recruits 20 paediatric patients.

Pregnancy Exclusion
Pregnancy and lactation. Pregnancy and contraception guidelines for clinical trials are attached.
Vulnerable Population
Signature of informed consent by the patient, in the case of an adult individual, or parents/legal guardian, in the case of a minor individual. Subject information and informed consent/assent documents are provided for patients aged 7-13 years, 14-18 years, adults, and for parents/legal guardian (document titles: "Informativa e Assenso pazienti 7_13 anni", "Informativa e Assenso pazienti 14_18 anni", "Informativa e Consenso adulti", "Informativa e Consenso genitori_tutore legale").

Inclusion criteria

  • {"criterion_text":"- Corticosteroid-naïve patients, aged 3 to 40 years of either sex and of Caucasian origin, with clinical and genetic diagnosis of L-CMD or EDMD2 with age onset before 5 years."}
  • {"criterion_text":"- Patients will be eligible if they can provide reproducible measurements of forced vital capacity (FVC) (variability <15% between two repeated measures of FVC) at the time of recruitment."}
  • {"criterion_text":"- Signature of informed consent by the patient, in the case of an adult individual, or parents/legal guardian, in the case of a minor individual."}

Exclusion criteria

  • {"criterion_text":"- Hypersensitivity to the active ingredient or any of the excipients"}
  • {"criterion_text":"- Chronic therapy with corticosteroids or immunosuppressive drugs"}
  • {"criterion_text":"- Diabetes mellitus or other comorbidities that strongly contraindicate the use of corticosteroids, such as Active tuberculosis, peptic ulcer, ocular herpes simplex, systemic fungal infections, psychosis; administration of live attenuated vaccine"}
  • {"criterion_text":"- Hereditary fructose intolerance"}
  • {"criterion_text":"- Pregnancy and lactation. Pregnancy and contraception guidelines for clinical trials are attached."}

Endpoints

Primary endpoints

  • {"endpoint_text":"- Evaluation of the effects of treatment with Deflazacort drops (0.9mg/kg/day in relation to the change of clinical parameters at each treatment time and follow up (T0-T6-T12-T15-T18).","definition_or_measurement_approach":"Assessment of change of clinical parameters at each treatment time and follow-up visits at T0, T6, T12, T15 and T18 while patients receive Deflazacort 0.9 mg/kg/day."}

Recruitment

Planned Sample Size
20
Recruitment Window Months
47
Consent Approach
Informed consent to be signed by the adult patient or by parents/legal guardian for minors ("Signature of informed consent by the patient, in the case of an adult individual, or parents/legal guardian, in the case of a minor individual."). Specific information/assent and consent documents are available for ages 7-13, 14-18, adults, and for parents/legal guardian (document titles provided in trial documents).

Geography

Total Number Of Sites
6
Total Number Of Participants
20

Italy

Earliest CTIS Part Ii Submission Date
21-11-2024
Latest Decision Or Authorization Date
21-01-2025
Processing Time Days
61
Number Of Sites
6
Number Of Participants
20

Sites

Site Name
Azienda Ospedaliera di Padova
Department Name
Neuroscienze
Principal Investigator Name
Elena Pegoraro
Principal Investigator Email
elena.pegoraro@unipd.it
Contact Person Name
Elena Pegoraro
Contact Person Email
elena.pegoraro@unipd.it
Site Name
Azienda Ospedaliero Universitaria Pisana
Department Name
UO Neurologia
Principal Investigator Name
Gabriele Siciliano
Principal Investigator Email
gabriele.siciliano@unipi.it
Contact Person Name
Gabriele Siciliano
Contact Person Email
gabriele.siciliano@unipi.it
Site Name
Azienda Unita Sanitaria Locale Di Bologna
Department Name
UOC di Neuropsichiatria dell’età Pediatrica
Principal Investigator Name
Antonella Pini
Principal Investigator Email
antonella.pini@isnb.it
Contact Person Name
Antonella Pini
Contact Person Email
antonella.pini@isnb.it
Site Name
IRCCS Istituto Giannina Gaslini
Department Name
DINOGMI
Principal Investigator Name
Chiara Fiorillo
Principal Investigator Email
chiarafiorillo@gaslini.org
Contact Person Name
Chiara Fiorillo
Contact Person Email
chiarafiorillo@gaslini.org
Site Name
Ospedale Pediatrico Bambino Gesu
Department Name
Unità di Malattie Neuromuscolari e Neurodegenerative
Principal Investigator Name
Enrico Bertini
Principal Investigator Email
bertini@opbg.net
Contact Person Name
Enrico Bertini
Contact Person Email
bertini@opbg.net
Site Name
IRCCS Foundation Istituto Neurologico Carlo Besta
Department Name
Neuroimmunologia e Malattie Neuromuscolari
Principal Investigator Name
Lorenzo Maggi
Principal Investigator Email
lorenzo.maggi@istituto-besta.it
Contact Person Name
Lorenzo Maggi

Sponsor

Primary sponsor

Full Name
Azienda Ospedaliero Universitaria Pisana
Organisation Type
Hospital/Clinic/Other health care facility
Country Of Registered Address
Italy

Investigational products

Investigational Product Name
DEFLAN 22,75 mg/ml gocce orali, sospensione
Active Substance
Deflazacort
Modality
Small molecule
Routes Of Administration
BUCCAL USE (oral drops, suspension)
Route
Buccal (oral drops)
Authorisation Status
Marketing authorisation present (marketingAuthNumber: 026046033, prodAuthStatus: 2)
Starting Dose
0.9 mg/kg/day
Dose Levels
0.9 mg/kg/day
Frequency
Daily
Maximum Dose
3942 mg/Kg

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