Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Study acronym: DANNIgene
StatusRecruiting
PhaseNot specified
Started

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Record History

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  1. Primary endpoints: details revised at 1 of 2 entries Show 5 more changesShow less
    • Study completion pushed from May 2027 to Jun 2028
    • Eligibility criteria expanded, about 8 words
    • Secondary endpoints: details revised at 1 of 7 entries
    • Study description revised
    • Publications: details revised at 1 of 1 entry
  2. Eligibility criteria shortened, about 1 word
    • Study description shortened, about 2 words
    v6
  3. Eligibility criteria shortened, about 5 words
    • Collaborators expanded, about 5 words
    v5
  4. Trial status: Not Yet Recruiting to Recruiting
    • Start date changed from estimate of Apr 2024 to Oct 23, 2024
    • Primary and study completion dates: Dec 2026 to May 2027
    • Site details revised
    v4
  5. Primary and study completion dates: Jan 2026 to Dec 2026v3 Show 4 more changesShow less
    • Start date: Jan 2024 to Apr 2024
    • Eligibility criteria expanded, about 13 words
    • Study description expanded, about 207 words
    • Study arms: 1 to 2
  6. Start date: Nov 2023 to Jan 2024
    • Primary and study completion dates: Nov 2025 to Jan 2026
    v2
  7. Study First Submitted
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
Assistance Publique - Hôpitaux de Paris
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Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.
Trial Details
NCT Number NCT06147414
Lead Sponsor Assistance Publique - Hôpitaux de Paris
Collaborators: URC-CIC Paris Descartes Necker Cochin
Conditions
(from sponsor)		 Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome, Proximal Spinal Muscular Atrophy, Myotonic Dystrophy, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker +7 more
Related terms Anemia, Sickle Cell, Cystic Fibrosis, Fragile X Syndrome, Hemophilia A, Hemophilia B, Huntington Disease, Hydrocephalus, X-linked, Muscular Dystrophy, Duchenne, Myotonic Dystrophy, Neurofibromatoses, Neurofibromatosis-Noonan syndrome, Polycystic Kidney, Autosomal Recessive
Enrollment 550 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov