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NCT Number: NCT05903365

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

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.

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Key information

Conditions

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

Age range

6 month–60 year

Sex eligibility

All sexes

Study type

Observational

About this study

Fanconi's disease is characterised by a constitutional defect in DNA repair which results in the occurrence of bone marrow failure and haematological malignancies, mainly myeloid: at the age of 40, the cumulative incidence of these two types of pathology reaches almost 100%. The only curative treatment for haemtalogocial diseases is allogenic hematopoietic stem cell transplant. Transplantation modalities must be adapted to the particular susceptibility of these patients to DNA bridging agents and radiotherapy. HSC transplantation is indicated with an unaffected matched related or matched unrelated donor when the patient has severe bone marrow failure or a poor prognostic clonal evolution (cytogenetic evolution or proven haemopathy). Alternative transplants (9/10 pheno-identical, haplo-identical and placental blood donors) were no longer proposed in most cases due to the frequency of severe complications (graft-versus-host disease, viral infections) and the catastrophic medium-term survival of around 40% (Dufort, Bone Marrow Transplant 2012, Gluckman Biol Blood Marrow Transplant. 2007). The development over the last decade of new haploidentical or phenoidentical 9/10 transplant protocols with unmodified grafts and GVH prophylaxis with post-transplant cyclosphosphamide or ex vivo T-depletion adapted to the particular susceptibility of patients with Fanconi disease has reduced the incidence of these severe complications.

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

Who can participate

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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)

Exclusion criteria

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

Treatment and study plan

Blood sampling

Other

Additional blood samples at J100, M6, M12, M24

Primary outcomes

  1. Overall Survival Rate

    Time frame: 2 years after transplant

Secondary outcomes

  1. Engraftment

    Time frame: At day 100

    Engraftment at least 3 consecutive days with neutrophils > 0.5 G/L and 7 consecutive days with platelets > 20 G/L, with predominantly whole blood donor chimerism

  2. Absolute neutrophils count

    Time frame: At 1 month

  3. Absolute neutrophils count

    Time frame: At 3 months

  4. Absolute neutrophils count

    Time frame: At 6 months

  5. Absolute neutrophils count

    Time frame: At 12 months

  6. Absolute neutrophils count

    Time frame: At 24 months

  7. Absolute number of platelets

    Time frame: At 1 month

  8. Absolute number of platelets

    Time frame: At 3 months

  9. Absolute number of platelets

    Time frame: At 6 months

  10. Absolute number of platelets

    Time frame: At 12 months

  11. Absolute number of platelets

    Time frame: At 24 months

  12. Incidence of grade 2 to 4 Acute Graft versus Host Disease

    Time frame: At 3 months

  13. Incidence of Acute cortico-resistant Graft versus Host Disease

    Time frame: At 3 months

  14. Incidence of Chronic Graft versus Host Disease

    Time frame: At 24 months

  15. Incidence of relapse

    Time frame: At 12 months

  16. Incidence of relapse

    Time frame: At 24 months

  17. Progression free survival

    Time frame: At 12 months

  18. Progression free survival

    Time frame: At 24 months

  19. Incidence of reactivation of cytomegalovirus infection

    Time frame: At 12 months

  20. Incidence of reactivation of Epstein Barr virus infection

    Time frame: At 12 months

  21. Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)

    Time frame: At 3 months

  22. Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)

    Time frame: At 6 months

  23. Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)

    Time frame: At 12 months

  24. Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)

    Time frame: At 24 months

  25. Graft-versus-host disease-free, relapse-free survival (GRFS)

    Time frame: At 24 months

  26. Incidence of cardiac toxities

    Time frame: At 12 months

  27. Overall survival

    Time frame: At 12 months

  28. Quality of Life questionnaire for adults

    Time frame: At inclusion

    Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level.

  29. Quality of Life questionnaire for adults

    Time frame: At 3 months

    Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level.

  30. Quality of Life questionnaire for adults

    Time frame: At 6 months

    Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level.

  31. Quality of Life questionnaire for adults

    Time frame: At 12 months

    Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level.

  32. Quality of Life questionnaire for adults

    Time frame: At 24 months

    Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level.

  33. Quality of life questionnaire for minors

    Time frame: At inclusion

    Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning.

  34. Quality of life questionnaire for minors

    Time frame: At 3 months

    Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning.

  35. Quality of life questionnaire for minors

    Time frame: At 6 months

    Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning.

  36. Quality of life questionnaire for minors

    Time frame: At 12 months

    Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning.

  37. Quality of life questionnaire for minors

    Time frame: At 24 months

    Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning.

  38. Rate of chimerism

    Time frame: At 1 month

  39. Rate of chimerism

    Time frame: At 3 months

  40. Rate of chimerism

    Time frame: At 6 months

  41. Rate of chimerism

    Time frame: At 12 months

  42. Rate of chimerism

    Time frame: At 24 months

  43. Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood

    Time frame: 3 months after transplant

  44. Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood

    Time frame: 6 months after transplant

  45. Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood

    Time frame: 12 months after transplant

  46. Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood

    Time frame: 24 months after transplant

  47. Ferritine levels

    Time frame: At 3 months

  48. Ferritine levels

    Time frame: At 6 months

  49. Ferritine levels

    Time frame: At 12 months

  50. Ferritine levels

    Time frame: At 24 months

Study contacts

Contact information is provided by the study sponsor or research team.

Flore Sicre de Fontbrune, Dr

CONTACT

[email protected]

+33 1 42 49 42 67

Matthieu RESCHE-RIGON, Pr

CONTACT

[email protected]

+33 1 42 49 97 42

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Official study title

Etude Observationnelle de Suivi Des Greffes Haplo-identique Dans la Maladie de Fanconi

Acronym: HAPLO-FANCONI

Important dates

Study start
2023
Primary completion
2028
Study completion
2028
First posted
Jun 15, 2023
Registry last updated
Jun 15, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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