{
  "api_version": "1",
  "request": {
    "url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=Genetics%2FBirth+Defects&page=12",
    "query": {
      "condition": "Genetics/Birth Defects",
      "page": 12
    },
    "page_size": 10
  },
  "pagination": {
    "page": 12,
    "page_size": 10,
    "total_count": 8005,
    "total_pages": 801,
    "next_page_url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=Genetics%2FBirth+Defects&page=13&page_size=10",
    "previous_page_url": "https://clinicaltrialsfind.com/api/v1/search.json?condition=Genetics%2FBirth+Defects&page=11&page_size=10"
  },
  "source": "remote",
  "last_synced_at": "2026-10-21T04:44:52.007Z",
  "attribution": "Data derived from public ClinicalTrials.gov records. The official record at https://clinicaltrials.gov/ remains the source of truth for current availability, contacts, and full study details.",
  "notes": [
    "This endpoint exposes only public summary fields — no participant contact emails, phone numbers, or scraped investigator contact details.",
    "For contact information and full protocol detail, follow each trial's `official_url` to the ClinicalTrials.gov record.",
    "This API is a navigational aid. It does not provide medical advice, eligibility determinations, or compensation guarantees."
  ],
  "trials": [
    {
      "nct_id": "NCT01580384",
      "title": "A Non-Drug Study of The Suitability of Neurocognitive Tests And Functioning Scales For The Measurement of Cognitive And Functioning Changes in Individuals With Down Syndrome",
      "overall_status": "COMPLETED",
      "study_type": "OBSERVATIONAL",
      "phases": [],
      "conditions": [
        "Down Syndrome"
      ],
      "interventions": [],
      "intervention_types": [],
      "sponsor": "Hoffmann-La Roche",
      "sponsor_class": "INDUSTRY",
      "healthy_volunteers": false,
      "eligibility": {
        "minimum_age": "12 Years",
        "maximum_age": "30 Years",
        "sex": "ALL",
        "summary": "12 Years to 30 Years"
      },
      "enrollment_count": 90,
      "start_date": "2012-02",
      "completion_date": "2014-01",
      "has_results": false,
      "last_update_posted_date": "2015-03-03",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 2,
      "location_summary": "Tucson, Arizona • Durham, North Carolina",
      "locations": [
        {
          "city": "Tucson",
          "state": "Arizona"
        },
        {
          "city": "Durham",
          "state": "North Carolina"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT01580384"
    },
    {
      "nct_id": "NCT01031901",
      "title": "Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1)",
      "overall_status": "COMPLETED",
      "study_type": "INTERVENTIONAL",
      "phases": [
        "PHASE1"
      ],
      "conditions": [
        "Tuberous Sclerosis",
        "Neurofibromatoses",
        "Angiofibroma",
        "Neurofibroma"
      ],
      "interventions": [
        {
          "name": "Skincerity",
          "type": "DRUG"
        },
        {
          "name": "Skincerity plus sirolimus/rapamycin",
          "type": "DRUG"
        },
        {
          "name": "Skinercity plus sirolimus/rapamycin",
          "type": "DRUG"
        }
      ],
      "intervention_types": [
        "DRUG"
      ],
      "sponsor": "The University of Texas Health Science Center, Houston",
      "sponsor_class": "OTHER",
      "healthy_volunteers": true,
      "eligibility": {
        "minimum_age": "13 Years",
        "maximum_age": null,
        "sex": "ALL",
        "summary": "13 Years and older"
      },
      "enrollment_count": 52,
      "start_date": "2009-12",
      "completion_date": "2011-06",
      "has_results": false,
      "last_update_posted_date": "2012-02-27",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 1,
      "location_summary": "Houston, Texas",
      "locations": [
        {
          "city": "Houston",
          "state": "Texas"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT01031901"
    },
    {
      "nct_id": "NCT01015430",
      "title": "A Study With RO4917523 in Patients With Fragile X Syndrome",
      "overall_status": "COMPLETED",
      "study_type": "INTERVENTIONAL",
      "phases": [
        "PHASE2"
      ],
      "conditions": [
        "Fragile X Syndrome"
      ],
      "interventions": [
        {
          "name": "Placebo (for RO4917523 ascending doses)",
          "type": "DRUG"
        },
        {
          "name": "Placebo (for RO4917523 fixed dose)",
          "type": "DRUG"
        },
        {
          "name": "RO4917523",
          "type": "DRUG"
        }
      ],
      "intervention_types": [
        "DRUG"
      ],
      "sponsor": "Hoffmann-La Roche",
      "sponsor_class": "INDUSTRY",
      "healthy_volunteers": false,
      "eligibility": {
        "minimum_age": "18 Years",
        "maximum_age": "50 Years",
        "sex": "ALL",
        "summary": "18 Years to 50 Years"
      },
      "enrollment_count": 40,
      "start_date": "2009-11",
      "completion_date": "2011-01",
      "has_results": false,
      "last_update_posted_date": "2016-11-02",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 5,
      "location_summary": "Sacramento, California • Decatur, Georgia • Chicago, Illinois + 2 more",
      "locations": [
        {
          "city": "Sacramento",
          "state": "California"
        },
        {
          "city": "Decatur",
          "state": "Georgia"
        },
        {
          "city": "Chicago",
          "state": "Illinois"
        },
        {
          "city": "Indianapolis",
          "state": "Indiana"
        },
        {
          "city": "Nashville",
          "state": "Tennessee"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT01015430"
    },
    {
      "nct_id": "NCT05660265",
      "title": "A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of Oral GSK4172239D Compared With Placebo in Sickle Cell Disease Participants Aged 18 to 50 Years",
      "overall_status": "TERMINATED",
      "study_type": "INTERVENTIONAL",
      "phases": [
        "PHASE1"
      ],
      "conditions": [
        "Hematologic Diseases",
        "Anaemia, Sickle Cell"
      ],
      "interventions": [
        {
          "name": "GSK4172239D",
          "type": "DRUG"
        },
        {
          "name": "Placebo",
          "type": "OTHER"
        }
      ],
      "intervention_types": [
        "DRUG",
        "OTHER"
      ],
      "sponsor": "GlaxoSmithKline",
      "sponsor_class": "INDUSTRY",
      "healthy_volunteers": false,
      "eligibility": {
        "minimum_age": "18 Years",
        "maximum_age": "50 Years",
        "sex": "ALL",
        "summary": "18 Years to 50 Years"
      },
      "enrollment_count": 11,
      "start_date": "2023-08-26",
      "completion_date": "2025-09-22",
      "has_results": false,
      "last_update_posted_date": "2026-01-22",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 6,
      "location_summary": "Miami, Florida • Tamarac, Florida • Atlanta, Georgia + 3 more",
      "locations": [
        {
          "city": "Miami",
          "state": "Florida"
        },
        {
          "city": "Tamarac",
          "state": "Florida"
        },
        {
          "city": "Atlanta",
          "state": "Georgia"
        },
        {
          "city": "Columbus",
          "state": "Georgia"
        },
        {
          "city": "Riverdale",
          "state": "Georgia"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT05660265"
    },
    {
      "nct_id": "NCT02862600",
      "title": "Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure",
      "overall_status": "TERMINATED",
      "study_type": "INTERVENTIONAL",
      "phases": [
        "PHASE2"
      ],
      "conditions": [
        "Cardiomyopathy, Hypertrophic",
        "Cardiomyopathy, Hypertrophic, Familial"
      ],
      "interventions": [
        {
          "name": "Perhexiline",
          "type": "DRUG"
        },
        {
          "name": "Use of bioanalytical assay to monitor plasma levels of perhexiline",
          "type": "DEVICE"
        }
      ],
      "intervention_types": [
        "DRUG",
        "DEVICE"
      ],
      "sponsor": "Heart Metabolics Limited",
      "sponsor_class": "INDUSTRY",
      "healthy_volunteers": false,
      "eligibility": {
        "minimum_age": "18 Years",
        "maximum_age": null,
        "sex": "ALL",
        "summary": "18 Years and older"
      },
      "enrollment_count": 35,
      "start_date": "2016-08-01",
      "completion_date": "2017-05-22",
      "has_results": true,
      "last_update_posted_date": "2017-08-31",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 11,
      "location_summary": "Stanford, California • Indianapolis, Indiana • Baltimore, Maryland + 7 more",
      "locations": [
        {
          "city": "Stanford",
          "state": "California"
        },
        {
          "city": "Indianapolis",
          "state": "Indiana"
        },
        {
          "city": "Baltimore",
          "state": "Maryland"
        },
        {
          "city": "Baltimore",
          "state": "Maryland"
        },
        {
          "city": "Detroit",
          "state": "Michigan"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT02862600"
    },
    {
      "nct_id": "NCT01327807",
      "title": "Cure Cystinosis International Registry",
      "overall_status": "UNKNOWN",
      "study_type": "OBSERVATIONAL",
      "phases": [],
      "conditions": [
        "Cystinosis",
        "Nephropathic Cystinosis",
        "Renal Fanconi Syndrome"
      ],
      "interventions": [],
      "intervention_types": [],
      "sponsor": "Cystinosis Research Foundation",
      "sponsor_class": "OTHER",
      "healthy_volunteers": false,
      "eligibility": {
        "minimum_age": null,
        "maximum_age": null,
        "sex": "ALL",
        "summary": "Not listed"
      },
      "enrollment_count": 750,
      "start_date": "2010-08",
      "completion_date": "2022-12",
      "has_results": false,
      "last_update_posted_date": "2014-03-12",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 1,
      "location_summary": "San Diego, California",
      "locations": [
        {
          "city": "San Diego",
          "state": "California"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT01327807"
    },
    {
      "nct_id": "NCT04098211",
      "title": "Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients",
      "overall_status": "ACTIVE_NOT_RECRUITING",
      "study_type": "OBSERVATIONAL",
      "phases": [],
      "conditions": [
        "Neuronal Ceroid-Lipofuscinoses",
        "Neuronal Ceroid Lipofuscinosis CLN2",
        "Spinocerebellar Ataxia, Autosomal Recessive 7"
      ],
      "interventions": [],
      "intervention_types": [],
      "sponsor": "Children's Hospital of Orange County",
      "sponsor_class": "OTHER",
      "healthy_volunteers": false,
      "eligibility": {
        "minimum_age": "4 Years",
        "maximum_age": null,
        "sex": "ALL",
        "summary": "4 Years and older"
      },
      "enrollment_count": 5,
      "start_date": "2019-11-01",
      "completion_date": "2026-12",
      "has_results": false,
      "last_update_posted_date": "2026-04-08",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 1,
      "location_summary": "Orange, California",
      "locations": [
        {
          "city": "Orange",
          "state": "California"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT04098211"
    },
    {
      "nct_id": "NCT04165109",
      "title": "Trial-Ready Cohort-Down Syndrome (TRC-DS)",
      "overall_status": "RECRUITING",
      "study_type": "OBSERVATIONAL",
      "phases": [],
      "conditions": [
        "Down Syndrome",
        "Alzheimer Disease",
        "Dementia"
      ],
      "interventions": [],
      "intervention_types": [],
      "sponsor": "University of Southern California",
      "sponsor_class": "OTHER",
      "healthy_volunteers": false,
      "eligibility": {
        "minimum_age": "25 Years",
        "maximum_age": "55 Years",
        "sex": "ALL",
        "summary": "25 Years to 55 Years"
      },
      "enrollment_count": 550,
      "start_date": "2021-06-07",
      "completion_date": "2027-12-31",
      "has_results": false,
      "last_update_posted_date": "2026-05-18",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 18,
      "location_summary": "Phoenix, Arizona • Orange, California • Aurora, Colorado + 15 more",
      "locations": [
        {
          "city": "Phoenix",
          "state": "Arizona"
        },
        {
          "city": "Orange",
          "state": "California"
        },
        {
          "city": "Aurora",
          "state": "Colorado"
        },
        {
          "city": "Park Ridge",
          "state": "Illinois"
        },
        {
          "city": "Indianapolis",
          "state": "Indiana"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT04165109"
    },
    {
      "nct_id": "NCT00001898",
      "title": "Microarray Analysis for Human Genetic Disease",
      "overall_status": "COMPLETED",
      "study_type": "OBSERVATIONAL",
      "phases": [],
      "conditions": [
        "Breast Neoplasm",
        "Hereditary Neoplastic Syndrome",
        "Melanoma",
        "Ovarian Neoplasm"
      ],
      "interventions": [],
      "intervention_types": [],
      "sponsor": "National Human Genome Research Institute (NHGRI)",
      "sponsor_class": "NIH",
      "healthy_volunteers": false,
      "eligibility": {
        "minimum_age": null,
        "maximum_age": null,
        "sex": "ALL",
        "summary": "Not listed"
      },
      "enrollment_count": 1500,
      "start_date": "1999-06-29",
      "completion_date": "2008-05-20",
      "has_results": false,
      "last_update_posted_date": "2017-07-02",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 5,
      "location_summary": "Tucson, Arizona • Baltimore, Maryland • Ann Arbor, Michigan + 2 more",
      "locations": [
        {
          "city": "Tucson",
          "state": "Arizona"
        },
        {
          "city": "Baltimore",
          "state": "Maryland"
        },
        {
          "city": "Ann Arbor",
          "state": "Michigan"
        },
        {
          "city": "New York",
          "state": "New York"
        },
        {
          "city": "Houston",
          "state": "Texas"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT00001898"
    },
    {
      "nct_id": "NCT01605136",
      "title": "Phase III Confirmatory Study in Erythropoietic Protoporphyria",
      "overall_status": "COMPLETED",
      "study_type": "INTERVENTIONAL",
      "phases": [
        "PHASE3"
      ],
      "conditions": [
        "Erythropoietic Protoporphyria"
      ],
      "interventions": [
        {
          "name": "Afamelanotide",
          "type": "DRUG"
        },
        {
          "name": "Placebo",
          "type": "DRUG"
        }
      ],
      "intervention_types": [
        "DRUG"
      ],
      "sponsor": "Clinuvel Pharmaceuticals Limited",
      "sponsor_class": "INDUSTRY",
      "healthy_volunteers": false,
      "eligibility": {
        "minimum_age": "18 Years",
        "maximum_age": null,
        "sex": "ALL",
        "summary": "18 Years and older"
      },
      "enrollment_count": 93,
      "start_date": "2012-05",
      "completion_date": "2013-07",
      "has_results": true,
      "last_update_posted_date": "2019-09-19",
      "last_synced_at": "2026-10-21T04:44:52.007Z",
      "location_count": 7,
      "location_summary": "Birmingham, Alabama • San Francisco, California • Detroit, Michigan + 4 more",
      "locations": [
        {
          "city": "Birmingham",
          "state": "Alabama"
        },
        {
          "city": "San Francisco",
          "state": "California"
        },
        {
          "city": "Detroit",
          "state": "Michigan"
        },
        {
          "city": "New York",
          "state": "New York"
        },
        {
          "city": "Charlotte",
          "state": "North Carolina"
        }
      ],
      "official_url": "https://clinicaltrials.gov/study/NCT01605136"
    }
  ]
}