Observational Follow-up Study of Haplo-identical Transplants in Fanconi Disease

NCT05903365 | Not Yet Recruiting

• 1 other identifier: APHP221272
• Study Type: observational
• Target: 18
• Locations: 0 countries
• Sites: N/A

Brief Summary

This observational protocol will allow for an independent, prospective evaluation of the improvement in survival of patients with Fanconi disease in hematological deadlock due to the absence of an HLA-identical donor and having received a haploidentical transplant.

Conditions

Fanconi Syndrome

Outcome Measures

Primary Outcomes (1)

• Overall Survival Rate

  2 years after transplant

Secondary Outcomes (50)

• Engraftment

  At day 100

• Absolute neutrophils count

  At 1 month

• Absolute neutrophils count

  At 3 months

• Absolute neutrophils count

  At 6 months

• Absolute neutrophils count

  At 12 months

Study Arms (1)

Patient with Fanconi disease

Other: Blood sampling

Interventions

Blood sampling OTHER

Additional blood samples at J100, M6, M12, M24

Patient with Fanconi disease

Eligibility Criteria

• Age: 6 Months - 60 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Patient with Fanconi disease

You may qualify if:

• Diagnosis of Fanconi disease confirmed by chromosome breakage test and/or genetic analysis
• aged between 6 months and 60 years
• with severe pancytopenia (2 of the following criteria: reticulocytes \< 60 G/L, PNN \< 0.5 G/L and/or platelets \< 20 G/L or patients with more than 6 transfusions in the last 12 months)
• with clonal progression (poor prognostic cytogenetics, myelodysplastic syndrome or acute leukaemia)
• with an unaffected haploidentical donor
• having signed the consent after having read the information note, consent of both parents for minors, of the guardian for patients under guardianship
• having a social security scheme (beneficiary or entitled person)

You may not qualify if:

• with an unaffected matched related or HLA 10/10 matched unrelated donnor
• under guardianship

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

MeSH Terms

Conditions

Fanconi Syndrome

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Flore Sicre de Fontbrune, Dr

CONTACT

+33 1 42 49 42 67; flore.sicre-de-fontbrune@aphp.fr

Matthieu RESCHE-RIGON, Pr

CONTACT

+33 1 42 49 97 42; matthieu.resche-rigon@u-paris.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 6, 2023
• First Posted: June 15, 2023
• Study Start: June 1, 2023
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: June 15, 2023

Record last verified: 2023-04