/A

Phase 1

• Conditions: Patients older than 15 years with hematologic or pulmonary lesions of telomeropathies.; MedDRA version: 20.0 Level: PT Classification code 10062759 Term: Congenital dyskeratosis System Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Blood and lymphatic diseases [C15]

• Registration Number: EUCTR2018-001686-17-FR
• Lead Sponsor: ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS (AP-HP)

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2018-06-06
• Last Update Posted: 25 November 2019

Recruitment & Eligibility

• Status: A
• Sex: Not specified
• Target Recruitment: 40

Inclusion Criteria

Patient (s):
- having a telomeropathy defined by the existence of a constitutional deleterious mutation of a gene involved in the maintenance of telomeres (TERT, TERC, DKC1, TINF2, RTEL1, PARN, ACD, NHP2, NOP10, NAF1, WRAP53, CTC1, ERCC6L2, USB1, POT1, DNAJC21 or a newly identified gene responsible for telomeropathy),
- 15 years of age or older,
- with severe hematologic involvement (platelets <20 G / L or PNN <0.5 G / L and / or hemoglobin <8 g / dL and / or need for transfusions) and / or pulmonary fibrosis with superior parenchymal involvement at 10% on the scanner.
- being able to give informed consent for patients 18 years and older,
- being able to give his consent and have the consent of the holder (s) of parental authority for children over 15,
- being a beneficiary of a social security scheme.
Are the trial subjects under 18? yes
Number of subjects for this age range: 40
F.1.2 Adults (18-64 years) no
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

Patient (s):
- with HIV infection or active infection with hepatitis B or hepatitis C,
- with severe hepatic impairment: transaminases ASAT and / or ALAT> 5N, or conjugated bilirubinemia> 30? mol / L, TP <50% (except vitamin K deficiency), or splanchnic thrombosis
- having a tumoral pathology that has been active or treated for less than 5 years, with the exception of basal cell carcinoma or carcinoma in situ of the cervix,
- having a history of organ transplantation or hematopoietic stem cells or having an indication for hematopoietic stem cell transplantation or organ transplantation within 6 months of inclusion,
- having an absolute contraindication to treatment with danazol: active thrombosis or history of thromboembolic disease, porphyria, severe renal or cardiac insufficiency (NYHA stage III or IV), androgen-dependent tumor, pathological genital haemorrhage of etiology indeterminate,
- having already received danazol for the treatment of telomeropathy,
- having received another androgen within a period of less than 6 months,
- receiving another experimental treatment,
- receiving another hormonal treatment,
- receiving treatment with simvastatin
- unexplored pathological genital bleeding
Concomitant treatment with Simvastatin
- having a pregnancy plan and not committing to effective contraception while taking the treatment,
- breastfeeding,
- under tutorship or curatorship.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified